Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes
Por um escritor misterioso
Last updated 21 setembro 2024
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Glaucoma and Findings Simulating Glaucoma in the Rubinstein-Taybi Syndrome
Adults with Rubinstein–Taybi syndrome - Stevens - 2011 - 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 associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: Two UK patients
PDF) Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Glaucoma and Findings Simulating Glaucoma in the Rubinstein-Taybi Syndrome
IJMS, Free Full-Text
PDF) Rubinstein-Taybi syndrome in diverse populations
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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