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
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PDF] 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
Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four‐generation family - Mohamed - 2015 - American Journal of Medical Genetics Part A - Wiley Online Library
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
Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature - ScienceDirect
How Are Changes in the Chromosome 16 Related to Health Conditions? - StoryMD
Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth, Molecular Cytogenetics
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
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
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
Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication - ScienceDirect
M M Al-Qattan's research works King Saud University, Riyadh (KKUH) and other places
M M Al-Qattan's research works King Saud University, Riyadh (KKUH) and other places
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