Casa rubinstein taybi omim

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Por um escritor misterioso

Last updated 20 janeiro 2025

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Genetic aetiology of early infant deaths in a neonatal intensive care unit

Deciphering the mutational signature of congenital limb malformations: Molecular Therapy - Nucleic Acids

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variation

GTG banding karyotype Download Scientific Diagram

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

PDF] Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis

SciELO - Brasil - Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome

Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variation

Recomendado para você