A More Precise Description of the AKT2-Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the MORFAN Acronym.

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.

Three Yemeni Siblings With Johanson-Blizzard Syndrome: A Case Report and Literature Review.

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System.

Retarded DNA DSB repair kinetics and augmented radiation sensitivity in Wiskott Aldrich syndrome patients.

First reported case of developmental dysplasia of the hips in a child with 3M syndrome: a case report.

Implications of Glomus Tumor Pathology and Pain Mechanism for Surgical Treatment.

A randomized control trial comparing the clinical outcome of thyroxine supplementation in thyroid peroxide antibody- negative cases in patients with subclinical hypothyroidism in pregnancy.

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

[Advance in research on MIRAGE syndrome].

[Clinical features and genetic analysis of a child with STISS syndrome due to variant of PSMD12 gene].

[Genetic analysis of a Chinese pedigree affected with Isolated growth hormone deficiency due to variant of CHRHR gene].

Identification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report.

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum.

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

A Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M Syndrome.

Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.

[Analysis of maternal and fetal outcomes and related factors of recurrence in women with a history of pre-eclampsia].

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.

Pathologic abnormalities of deep placentation in the great obstetrical syndromes: Implications for understanding the pathophysiology, risk assessment in early pregnancy, and personalized prevention.

Congenital hyperinsulinism in an individual with CHARGE syndrome and a pathogenic CHD7 variant.

Refractory Rickets: Evaluation and Management.

Fatty acid metabolic programming in intrauterine growth restriction: Underlying mechanisms and postnatal consequences.

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Neuronal SEL1L-HRD1 ER-associated degradation is essential for motor function and survival in mice.

Divergent Paths: A Survey of Cardiologist and Obstetrician Decision-Making in High-Risk Pregnancies with Cardiovascular Disease.

Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.

Association between Behçet disease and pregnancy-related outcomes: A systematic review and meta-analysis.

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.

Assessment of combined growth hormone and gonadotropin-releasing hormone analogue treatment in children with Silver-Russell syndrome.

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature.

CTBP1 In Brain Development: A Novel Variant c.107G>C,p.(R36P) Leads to a Distinct Neurodevelopmental Disorder.

Why reproduction has probably been very problematic in Neanderthals: The fabulous history of (pre)eclampsia.

[Musculoskeletal Complications in Rheumatic Diseases].

[Phenotypic heterogeneity and management strategies for two brothers with XIAP deficiency syndrome].

Clinical predictors of short-term treatment response in stupor: a retrospective study.

Expanding the mutational spectrum of RAD50: a case report of Nijmegen breakage syndrome-like disorder in a Chinese child.

Neurological Consequences of Infantile Vitamin B12 Deficiency - A Prospective Cohort Study.

A recombinant adenoviral vector vaccine expressing the ORF2 capsid protein confers robust protection against chicken astrovirus infection.

Novel FUCA1 variants in two families, including the first report of a contiguous gene deletion syndrome involving FUCA1 and HMGCL.

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

The Role of Pyridoxine Treatment for Seizures in Patients with PGAP3-Congenital Disorders of Glycosylation.

[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].

Prenatal diagnosis of Neu-Laxova syndrome with compound heterozygous variants in PHGDH in a fetus presenting increased nuchal translucency and severe early-onset fetal growth restriction in a dichorionic diamniotic twin pregnancy.

Risk factors and analysis of retinopathy of prematurity in monochorionic diamniotic twins.

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature.

Population developmental hazard of over-the-counter NSAIDs.

Expanding the Phenotype of STAMBP-Related Microcephaly-Capillary Malformation Syndrome.

Impact of obesity and preconceptional bariatric surgery on feto-placental unit in a rat model: a preliminary study.

A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.

Diagnosis across the fetal alcohol spectrum disorders (FASD) continuum.

Efficacy of Recombinant Human Growth Hormone on Glucocorticoid-Induced Short Stature in Children: A Retrospective Controlled Study.

Distinguishing Leptospirosis from Other Causes of Acute Encephalitis Syndrome: Clinical Insights.

Cockayne syndrome mutation in XPG activate the integrated stress response.

CLPB deficiency-associated congenital neutropenia: A rare case report and literature review.

Olfactory Deficits in Fragile X Syndrome.

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Novel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.

Growth factor analysis in children with non-syndromic orofacial clefts: a systematic review.

Clinical Manifestations and Genetic Insights Into Congenital Myasthenic Syndrome-22 in Pediatric Patients.

Venlafaxine-induced serotonin syndrome causing bilateral cerebral strokes: a case report.

[Case Report of One Family With Coffin-Lowry Syndrome and Literature Review of 28 Cases in China].

Functional skills in MECP2 duplication syndrome: developmental dynamics and regression.

A study on the nutritional status and body composition of children with Hutchinson-Gilford progeria syndrome.

Prenatal Diagnosis of Bloom Syndrome Associated With Biallelic BLM RecQ-Like Helicase Variants Presenting With Severe Fetal Growth Restriction.

Feeding-Triggered Seizures in a Newborn with AP1S1-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare Disease.

Clinical features of non-criteria obstetric antiphospholipid syndrome: a retrospective cohort study on antibody-based risk classification and pregnancy outcomes.

KBG Syndrome: A Case Report and Longitudinal Assessment of Long-Acting Recombinant Human Growth Hormone Therapy.

Cochlear implantation in patients with CHARGE syndrome: a 10-year institutional experience and literature review.

Ventricular arrhythmia and Noonan syndrome with leucine zipperlike transcription regulator 1 mutations: expanding the phenotype with a case report and review of the literature.

Emergence of decapod hepanhamaparvovirus genotype V and its co-infection with Enterocytozoon hepatopenaei in cultured Penaeus vannamei in Thailand: Evidence from epidemiological, pathogenicity, and microbiome analyses.

From Altered Metabolic and Anthropometric Parameters to Metabolic Syndrome: A Cross-Sectional Survey on the Effectiveness and Safety of Neo-Policaptil® Gel Retard.

Growth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights.

[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].

[Clinical and genetic analysis of a Chinese pedigree affected with Vissers-Bodmer syndrome due to variant of CNOT1 gene and a literature review.].

[Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review].

Cannabis-Induced Catatonia Complicated by Rhabdomyolysis, Acute Kidney Injury, and Sympathetic Overactivity: A Case Report.

PEG10 loss of function causes Silver-Russell syndrome: a familial case with paternal deletion.

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

The cyclic nucleotide binding sites of Swiss-Cheese, the Drosophila orthologue of human PNPLA6, are required for its catalytic function.

Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism.

A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.

Epigenetic Targeting of Senescent Cells Prevents the Deleterious Effects of Obstructive Sleep Apnea on Growing Skeleton.

Functional evaluation of NAA10 variants in patients with Ogden syndrome.

Hemolytic Uremic Syndrome Complicated by Severe Neuropsychiatric Symptoms: A Case Report and Review of the Literature.

Pulmonary hypertension in patients with Noonan syndrome.

Management of Neonatal Severe Hyperparathyroidism due to Homozygous CASR Mutation: Challenges and Literature Insights.

Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia.

Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein-Taybi syndrome type 2 in Chinese patients.

Generation of a human induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation (c.3982C>T).

Stillbirth in twin pregnancies in Stockholm County 2000-2021-A descriptive study.

Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Co-Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha-Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p13.3 and Partial Trisomy 16q22.1-q24.3.

Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH-SCKS in a Chinese pregnant woman across two consecutive pregnancies.

3M syndrome in Saudi Arabia: a case series study and literature review.

A Case Report: Identification of a Pathogenic Microdeletion at Chromosome 21q21.3q22.13 Using Whole-Exome Sequencing and CNV Analysis in a Moroccan Child with Global Developmental Delay.

Non-Classic Cornelia de Lange Syndrome Due to BRD4 Gene Alterations: A Literature Review.

Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variant at splicing site and exon 1 deletion.

The association of antiphospholipid syndrome under medical treatment with adverse pregnancy outcomes.

[Epileptic encephalopathy associated with a mutation in the KCNT1 gene].

[Cognitive dysfunction in children with nervous system diseases: modern approaches to diagnosis and treatment].

The Diagnostic Performance of Nuchal Translucency Alone as a Screening Test for Down Syndrome: A Systematic Review and Meta-analysis.

Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome.

Monogenic defects in Russian children with autism spectrum disorders.

Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature.

[Neuropsychological development status and risk factors in small for gestational age infants at corrected ages 12-24 months].

Sudden upper airway obstruction during catatonia treatment: A case of nasogastric tube syndrome.

Chromatin-associated DEK proteins maintain H3K27me3 balance and coordinate developmental transitions in plants.

3M syndrome with novel CUL7 variants in a Chinese patient: a case report.

[Clinical and genetic characteristics of 6 cases of congenital dyskeratosis in children].

Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant.

De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.

Preterm Birth, Fetal Growth Restriction and Early Postnatal Body Mass Index Normalisation Predict Adult Anthropometry.

Clinical Profile and Determinants of Chronic Kidney Disease Progression in Patients With Cardiorenal Anaemia Syndrome in Tanzania: A Descriptive Post Hoc Prospective Observational Study.

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.

Prediction of preeclampsia-related outcomes with the sFlt-1 (soluble Fms-like tyrosine kinase-1)/PlGF (placental growth factor)-ratio in the routine in twin pregnancies.

Copper in Human Health and Disease: Insights from Inherited Disorders.

Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Information of 1q21.1 Deletion and Duplication Syndromes: A Single-Center Case Series.

CHD7 regulates cardiac neural crest cell differentiation through SOX5-mediated self-activation.

Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties.

Novel serum autoantibodies against alpha thalassemia/mental retardation syndrome X-linked, a component of promyelocytic leukaemia nuclear bodies, in dermatomyositis.

EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations.

Co-occurrence of Fanconi-Bickel syndrome and CMV infection in a child, a case report.

Aberrant hippocampal gamma oscillations in a mouse model of fragile X syndrome: insights from in vitro slice models.

ST-Elevation Myocardial Infarction (STEMI) in a Morphologically Pediatric Adult With Seckel Syndrome: A Report of a Rare Case.

Two case reports and a literature review of hyperphosphatasia with intellectual disability syndrome 2 caused by a PIGO mutation.

Colorectal cancer in a man with silver-Russell syndrome: a case report.

Comprehensive prenatal and postnatal analysis of 22q11.2 microdeletion syndrome: a single-center study.

Developmental, hepatic, and neurotoxicity of dinotefuran and ameliorative effects of Rosmarinus officinalis.

Recurrent fever-associated acute liver failure and cranial dysmorphism in children caused by RINT1 gene mutations: a rare case report.

Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.

Pulmonary Vascular Doppler and Fetal Lung Biometry as Predictors of Neonatal Respiratory Complications in Early- and Late-Onset Fetal Growth Restriction.

A multisite study of the overlap between symptoms and cognition in schizophrenia: Une étude multicentrique sur le chevauchement entre les symptômes et les troubles cognitifs chez les personnes atteintes de schizophrénie.

Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?

Mechanistic insights into metformin's anti-hyperuricemic effect: Targeting PPP/DNPB/XOD-mediated purine pathway, purinosome assembly, and gut microbiota homostasis in rats.

Prediction Models of IDH and ATRX Gene Status in Diffuse Gliomas Based on VASARI Features.

The ITR regions play a significant role in modulating viral pathogenicity demonstrated by the reverse genetics system of a novel goose parvovirus.

Retarded Learning in a Rabbit Model of Metabolic Syndrome Created by Long-Term Feeding of High-Fat Diet and High Sucrose.

A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.

A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.

Complications in monochorionic twin pregnancies.

Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis.

Steroid-Dependent Nephrotic Syndrome With Remission After Rituximab Implementation in a 14-Year-Old Boy: A Case Report.

Familial 3M Syndrome - as an Example of Diagnostic Difficulties in Rare Genetic Syndromes.

A Treatable Cause of Seizures and Hyperphosphatasia: Patients with PGAP2 and PGAP3 Mutations.

Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.

Identification and Treatment of Catatonia Presenting as Agitation and Self Injury in an Adolescent With Rett Syndrome.

DCAF17 Mutation in Woodhouse-Sakati Syndrome: A Case Report on a Novel Homozygous Variant.

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.

Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome.

Van Wyk-Grumbach syndrome: a case report and review of the literature.

A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome.

Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review.

Divergent aperiodic slope and alpha dynamics expose cortical excitability gradients in fragile X syndrome.

The added value of the sFlt-1/PlGF ratio in pregnant women with intrauterine growth restriction (IUGR) with or without preeclampsia on adverse pregnancy outcomes and neonatal morbidities: a retrospective study.

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.

Physical performance measures of young male football players with Down syndrome and mild intellectual disability versus untrained peers.

Rosuvastatin for Improving Fetal Growth Restriction in Pregnant Women: A Double-Blind Randomized Clinical Trial.

The Christianson syndrome protein, sodium hydrogen exchanger isoform 6, is required for fat accumulation.

Delayed structural maturation of inner hair cell ribbon synapses in a mouse model of fragile X syndrome.

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients.

Reduced striatal dopamine transmission as a transdiagnostic substrate of psychomotor retardation.

Type of Primary Surgery and Postoperative Velopharyngeal Function in Patients With Submucous Cleft Palate at 3 years and Older.

Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.

GAPO syndrome: a comprehensive examination and review of 105 clinical cases.

Short Stature in Moyamoya Disease: A Systematic Review of Potential Mechanisms and Clinical Outcomes.

In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome.

Noonan syndrome with PTPN11 gene variant presenting as isolated short stature: a case report.

Perinatal outcome after single intrauterine death in monochorionic twin pregnancy: systematic review and meta-analysis.

Scheduled feeding improves behavioral outcomes and reduces inflammation in a mouse model of fragile X syndrome.

MAGIS syndrome: phenotypes, pathogenesis, and treatment.

Phelan-McDermid syndrome in a Chinese pediatric patient: A case report - new heterozygous mutations lead to PMS.

Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.

"Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report".

The hidden impact of intrauterine growth restriction in the pathogenesis of metabolic syndrome: Functional and structural alterations in rat visceral adipose tissue.

Clinical and molecular insights into Wiedemann-Rautenstrauch syndrome: A case report and genetic analysis of the c.2707G>A variant in the POLR3A gene.

A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family.

A novel TAFAZZIN gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report.

Biallelic Variant in SLC6A17 in a Pakistani Family With Autosomal Recessive Intellectual Disability.

Prenatal Diagnosis of Bartter Syndrome: Lessons From a Complex Diagnostic Procedure.

The impact of androgens on pregnancy and fetal outcomes in patients with polycystic ovary syndrome.

A Mouse Model of Partial Pancreas Agenesis Induced by Polo-like kinase 1 Mutation.

Decoding Pancreatic Neuroendocrine Tumors: Molecular Profiles, Biomarkers, and Pathways to Personalized Therapy.

QT interval prolongation in schizophrenia: A cross-sectional study from a tertiary care center in Raipur.

Pathogenicity difference analysis of novel duck reovirus NY01 between in semi-muscovy duck and shelduck.

Smaller placentas and maternal vascular malperfusion are associated with worse pregnancy outcomes in triplet pregnancies with a monochorionic component.

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report.

Impaired nutrient absorption, reduced bone mass and alterations in the gut microbiome contribute to postnatal growth retardation in a mouse model of MWS.

Factors influencing the birth weight of ART-conceived offspring.

Lesch-Nyhan syndrome a dental approach: case report.

The Intersection of Genitopatellar Syndrome and Oral Health: A Case Report at Saudi Arabia.

Lead poisoning in a 10-year-old boy with cyclic vomiting as the first symptom: a case report.

Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations.

Disseminated Mycobacterium abscessus Infection in a Three-Year-Old Girl With CHARGE Syndrome: A Case Report and Literature Review.

Pregnancy Characteristics and Outcomes in Monochorionic Diamniotic Twin Pregnancies Complicated by Proximal Placental Cord Insertions From a Single Center.