Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Por um escritor misterioso
Last updated 11 abril 2025


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

Genes, Free Full-Text

Chromosome 16p13.3 Deletion Syndrome, Proximal disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

The Smith-Lemli-Opitz syndrome

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

Primary immunodeficiency‐related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China - Zhu - 2021 - Clinical & Translational Immunology - Wiley Online Library

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

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

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

Genes, Free Full-Text

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies, Clinical Epigenetics

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
-
IJMS, Free Full-Text11 abril 2025
-
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics11 abril 2025
-
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS11 abril 2025
-
PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome11 abril 2025
-
Rubinstein-Taybi Syndrome - an overview11 abril 2025
-
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library11 abril 2025
-
Mosaic CREBBP mutation causes overlapping clinical features of11 abril 2025
-
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP11 abril 2025
-
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics11 abril 2025
-
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome11 abril 2025
você pode gostar
-
What Could Be In Poppy Playtime, Chapter 2, Poppy11 abril 2025
-
Ada Wong, Wiki11 abril 2025
-
Lucas Cardoso :: Pampilhosa :: Perfil do Jogador11 abril 2025
-
Ofolato 30 Comprimidos, Móvel p/ Casa Mantecorp Famasa Nunca Usado 9092461711 abril 2025
-
VOCÊ CONHECE O FILME RÉQUIEM PARA UM SONHO? SE NÃO, ASSISTA ESTE11 abril 2025
-
Desenhos de Sapo para colorir e imprimir - Pinte Online11 abril 2025
-
Os 10 Melhores Jogos LEVES de TIRO Para Android no BlueStacks 311 abril 2025
-
The Outlast Trials - Official Console Announcement Trailer11 abril 2025
-
DAO Dashboard Club Page Sapien Nation by Sergey Tretyakov on11 abril 2025
-
Size Matters - Love Yoga Anatomy11 abril 2025