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

Por um escritor misterioso

Descrição

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online  Library
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
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online  Library
Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing - ScienceDirect
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online  Library
The missing link between genetic association and regulatory function
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online  Library
Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online  Library
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online  Library
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract - Connaughton - 2022 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online  Library
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online  Library
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition - Musante - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online  Library
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online  Library
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online  Library
Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting - Schildt - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online  Library
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - 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
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations -  Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online  Library
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
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
de por adulto (o preço varia de acordo com o tamanho do grupo)