Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein- Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document
Por um escritor misterioso
Last updated 02 junho 2024
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein-Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance, Molecular Cytogenetics
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome
Rahbeeni ZUHAIR, King Faisal Specialist Hospital and Research Centre, Riyadh, KFSHRC, Medical Genetics Department
Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay - Gu - 2011 - American Journal
How Are Changes in the Chromosome 16 Related to Health Conditions? - StoryMD
t(10;16)(q22;p13) KAT6B/CREBBP
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 in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: A case report
Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication - ScienceDirect
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?, Molecular Cytogenetics
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
Recomendado para você
-
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™02 junho 2024
-
Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of02 junho 2024
-
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder02 junho 2024
-
OMIM diseases as a function of associated HPO phenotypes. Data include02 junho 2024
-
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family02 junho 2024
-
Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers - Wieczorek - 2009 - American Journal of Medical Genetics Part A02 junho 2024
-
About - DECIPHER v11.2302 junho 2024
-
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 Library02 junho 2024
-
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library02 junho 2024
-
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP02 junho 2024
você pode gostar
-
Hiro - Rule 63 by MentalCrash on Newgrounds02 junho 2024
-
20 Best Canva Hacks (Step-By-Step Tips and Tricks for Canva)02 junho 2024
-
Tractor Stock Vector by ©2v 4288314902 junho 2024
-
Stewart's releases five new ice cream flavors and brings back a fan favorite02 junho 2024
-
You guys think cosmic Garou was hot? Like his body temperature I mean. Would he be hot because all the movement or cold because his body is like made of space (?)02 junho 2024
-
Zoro PNG Transparent Images - PNG All02 junho 2024
-
Mortal Kombat 1 tem Fatalities com recurso de acessibilidade02 junho 2024
-
casamento - Casamento Surpresa em Campos dos Goytacazes (Fábio & Fernanda) - 1° Casamento feito no Jardim São Benedito02 junho 2024
-
Assistir 86 (Eighty Six) - 2 - Todos os Episódios02 junho 2024
-
Ahhhh, there goes my last reason to put off buying it: Shadow of Mordor free DLC lets you play as Lithariel : r/GirlGamers02 junho 2024