Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
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File:Rubinstein-Taybi Syndrome1.jpg - Wikipedia

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. - Abstract - Europe PMC

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. - Abstract - Europe PMC

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

PDF) Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

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

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

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. - Abstract - Europe PMC

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. - Abstract - Europe PMC

PDF) Rubinstein-Taybi Syndrome: A Case Report

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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