Adiposity rebound and height velocity in patients with Congenital Adrenal Hyperplasia.

[Protein-energy deficiency in children of the first year of life as a risk factor for dislipoproteinemia].

Emicizumab in Acquired Hemophilia A: A Real-World Case Series with Patient-Level Outcome Analysis.

IGF-I bioavailability in congenital isolated growth hormone deficiency.

Use of Plasma-Derived FVII Concentrate in Surgical Patients with Factor VII Deficiency: A Case Series.

Thrombin generation profiling in rare coagulation factor deficiencies: associations with bleeding severity and potential for screening.

Severe myelomeningocele in the fourth pregnancy of a 29-year-old woman: a case report.

Clinical and Genetic Characterization of Factor XI Deficiency in Jordan: Identification of a Novel Splice-Site Mutation Associated with Severe Deficiency.

Congenital Thrombophilia in Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Systematic Review of Prevalence, Clinical Phenotype, and Surgical Outcomes.

Adult-onset Vitamin K-dependent Coagulation Factor Deficiency of Unidentified Etiology.

Model-informed drug development of Mim8 - a next-generation bispecific antibody for treatment of haemophilia A.

Factor XI and Atrial Fibrillation: A Mismatched Pairing?

Deficiency of HSF4 Increases the Secretion of Small Extracellular Vesicles via Upregulation of Chaperone-Mediated Autophagy.

Twenty years of the four-factor prothrombin complex concentrate Octaplex/Balfaxar: A narrative review.

Successful Laparoscopic Sleeve Gastrectomy in a Patient With Rare Congenital Factor VII Deficiency: A Case Report and Management Strategy.

Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.

Challenges in the diagnosis and management of patients with rare coagulation disorders in Lebanon and consequences of a social and economic crisis.

[100 years thrombotic thrombocytopenic purpura (TTP) - lessons learned?].

Brain Abnormalities in Young Single- and Double-Heterozygote Mice for Both Nkx2-1- and Pax8-Null Mutations.

Clinical and Humanistic Burden of Non-inhibitor Haemophilia A in Five European Countries: Insights from the CHESS II Study.

Prothrombin deficiency with recurrent subretinal hemorrhage.

Exploring the relationship between condition severity and health-related quality of life in people with haemophilia A across Europe: a multivariable analysis of data from the CHESS II study.

Diagnosis and management of factor XI alloinhibitors in patients with congenital factor XI deficiency-A large single-centre experience.

Perioperative management and neuraxial analgesia in women with factor XI deficiency (<60 IU/dL): a French multicenter observational study of 314 pregnancies.

Genetics and Epigenetics in Acquired Hemophilia A: From Bench to Bedside.

Accuracy of Glucagon Testing Across Transition in Young Adults With Childhood-Onset GH Deficiency.

Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia.

Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias.

Economic and Humanistic Burden of Moderate and Severe Hemophilia A and B in Spain: Real-World Evidence Insights from the CHESS II Study.

Isolated Prothrombin Deficiency: A Case Report of a Rare Coagulation Disorder and Review of Literature.

Falsely prolonged prothrombin time test in a patient with erythrocytosis: a case report.

Genotype-Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency: A Three-Center Database Study.

PredictONCO: a web tool supporting decision-making in precision oncology by extending the bioinformatics predictions with advanced computing and machine learning.

Plasma Clearance of Coagulation Factor VIII and Extension of Its Half-Life for the Therapy of Hemophilia A: A Critical Review of the Current State of Research and Practice.

Association between Severe Acute Respiratory Syndrome Coronavirus 2 Infection (Coronavirus Disease 2019) and Lupus Anticoagulant-Hypoprothrombinemia Syndrome: A Case Report and Literature Assessment.

Biomarker sST2 in Adults with Transposition of the Great Arteries Palliated by Mustard Procedure: A Five-Year Follow-up.

Single Cell Sequencing Reveals Mechanisms of Persistent Truncus Arteriosus Formation after PDGFRα and PDGFRβ Double Knockout in Cardiac Neural Crest Cells.

Congenital adiponectin deficiency mitigates high-fat-diet-induced obesity in gonadally intact male and female, but not in ovariectomized mice.

Cerebral venous sinus thrombosis after COVID-19 vaccination and congenital deficiency of coagulation factors: Is there a correlation?

Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.

European Renal Best Practice endorsement of guidelines for diagnosis and therapy of thrombotic thrombocytopaenic purpura published by the International Society on Thrombosis and Haemostasis.

The role of epidermal growth factor-like domain-related abnormalities, protein S Tokushima, and anti-protein S autoantibodies in pregnancy loss.

Anesthesia strategy for factor X deficiency coagulopathy: case report.

Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.

Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia.

Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.

Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.

Aldosterone signaling defect in young infants: single-center report and review.

Tildacerfont in Adults With Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies.

Patient-relevant health outcomes for hemophilia care: Development of an international standard outcomes set.

RNAi targeting heparin cofactor II promotes hemostasis in hemophilia A.

von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention.

Autocrine IGF2 programmes β-cell plasticity under conditions of increased metabolic demand.

A pilot study on the impact of congenital thrombophilia in COVID-19.

Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.

A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.

Biochemical, molecular and clinical aspects of coagulation factor VII and its role in hemostasis and thrombosis.

Current Clinical Applications of In Vivo Gene Therapy with AAVs.

Genetic compensation prevents myopathy and heart failure in an in vivo model of Bag3 deficiency.

Congenital Hemolytic Anemias: Is There a Role for the Immune System?

Thyroxine Treatment During the Perinatal Stage Prevents the Alterations in the ObRb-STAT3 Leptin Signaling Pathway Caused by Congenital Hypothyroidism.

Bleeding and response to hemostatic therapy in acquired hemophilia A: results from the GTH-AH 01/2010 study.

Deficiency of NONO is associated with impaired cardiac function and fibrosis in mice.

Comprehensive care for hemophilia and other inherited bleeding disorders.

Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.

Direct Oral Anticoagulants in Patients Affected by Major Congenital Thrombophilia.

Etiology of primary adrenal insufficiency in children: a 29-year single-center experience.

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

Hemostatic assessment of combined anticoagulant therapy using warfarin and prothrombin complex concentrates in a case of severe protein C deficiency.

Neuroglial Involvement in Abnormal Glutamate Transport in the Cochlear Nuclei of the Igf1 -/- Mouse.

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).

Clinical pharmacology, efficacy and safety study of a triple-secured fibrinogen concentrate in adults and adolescent patients with congenital fibrinogen deficiency.

Successful coronary artery bypass graft surgery in severe congenital factor VII deficiency: Perioperative treatment with pd-factor VII concentrate.

Proline 36 of the Factor XIII Activation Peptide Plays a Crucial Role in Substrate Recognition and Zymogen Activation.

Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.

The sample that would not clot.

Expanding the Spectrum of EBV-positive Marginal Zone Lymphomas: A Lesion Associated With Diverse Immunodeficiency Settings.

Loss of Dis3l2 partially phenocopies Perlman syndrome in mice and results in up-regulation of Igf2 in nephron progenitor cells.

Testing for genetic contributions to infertility: potential clinical impact.

Sclerotherapy of esophageal varices in hemophilia patients with liver cirrhosis - a prospective, controlled clinical study.

[Genetic factors in hypopituitarism. The role of transcription factors in pituitary hormone deficiency].

Acquired factor V deficiency in a patient with myeloma and amyloidosis.

Inherited factor II deficiency with paradoxical hypercoagulability: a case report.

Anaphylaxis Following Human Prothrombin Complex Concentrate in a Child with Lupus Anticoagulant Hypoprothrombinemia Syndrome: A Cautionary Tale.

Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?

Hypothalamic abnormalities: Growth failure due to defects of the GHRH receptor.

Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype-phenotype relationship.

Congenital Jejunal Membrane Causing Transient Pseudohypoaldosteronism and Hypoprothrombinemia in a 7-Week-Old Infant.

A genetic risk factor for thrombophilia in a Han Chinese family.

Gene analysis of six cases of congenital protein S deficiency and functional analysis of protein S mutations (A139V, C449F, R451Q, C475F, A525V and D599TfsTer13).

Recombinant Activated Factor VII (Eptacog Alfa Activated, NovoSeven®) in Patients with Rare Congenital Bleeding Disorders. A Systematic Review on its Use in Surgical Procedures.

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis.

Fgf10 deficiency is causative for lethality in a mouse model of bronchopulmonary dysplasia.

Expression and release of platelet protein disulphide isomerase in patients with haemophilia A.

Recombinant B-domain-deleted porcine sequence factor VIII (r-pFVIII) for the treatment of bleeding in patients with congenital haemophilia A and inhibitors.

Rare coagulation disorders: fibrinogen, factor VII and factor XIII.

Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies.

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.

In Pulmonary Arterial Hypertension, Reduced BMPR2 Promotes Endothelial-to-Mesenchymal Transition via HMGA1 and Its Target Slug.

Autoantibodies against homocysteinylated protein in a mouse model of folate deficiency-induced neural tube defects.

A case of congenital prothrombin deficiency and idiopathic thrombocytopenic purpura in a pregnant female.

Molecular characterization of novel splice site mutation causing protein C deficiency.

Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency.

Eptacog alfa activated: a recombinant product to treat rare congenital bleeding disorders.

Preparation of factor VII concentrate using CNBr-activated Sepharose 4B immunoaffinity chromatography.