Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes
Por um escritor misterioso
Descrição

Glaucoma and Findings Simulating Glaucoma in the Rubinstein-Taybi Syndrome

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

Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal Medicine

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

PDF) Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: Two UK patients

Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ and 3‐Dimensional Ultrasonography - Cardalliac - 2018 - Journal of Ultrasound in Medicine - Wiley Online Library

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

PDF) Rubinstein-Taybi syndrome in diverse populations

PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management
de
por adulto (o preço varia de acordo com o tamanho do grupo)