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

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Last updated 01 junho 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: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
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
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - 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
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation
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
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
PDF) Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations
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
PDF) Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations -  Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
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) 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
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
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

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