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

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Last updated 24 dezembro 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
PDF) Rubinstein-Taybi syndrome medical guidelines
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - 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) 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
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
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
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 - an overview
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - 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) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
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
The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes - Jezela‐Stanek - 2020 - 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
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
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library

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