High frequency of copy number imbalances in Rubinstein–Taybi
Por um escritor misterioso
Descrição

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities - Stefano Gambardella, Erika Ciabattoni, Francesca Motta, Giusy Stoico, Francesca Gullotta, Michela Biancolella, Anna Maria

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome - Genetics in Medicine

IJMS, Free Full-Text

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

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities - Stefano Gambardella, Erika Ciabattoni, Francesca Motta, Giusy Stoico, Francesca Gullotta, Michela Biancolella, Anna Maria

Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans - ScienceDirect

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
de
por adulto (o preço varia de acordo com o tamanho do grupo)