Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library

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Last updated 16 novembro 2024
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: A case report
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Genes, Free Full-Text
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
PDF) Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Hyperinsulinism in an individual with an EP300 variant of Rubinstein‐Taybi syndrome - Wild - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
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