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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Intellectual Disability and SOS1[original query]
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.
Advances in medical sciences 2017 9 63 (1): 87-93.
Tafazoli Alireza, Eshraghi Peyman, Pantaleoni Francesca, Vakili Rahim, Moghaddassian Morteza, Ghahraman Martha, Muto Valentina, Paolacci Stefano, Golyan Fatemeh Fardi, Abbaszadegan Mohammad Re
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
BMC medical genetics 2018 3 19 (1): 46.
Prasad Aparna, Sdano Matthew A, Vanzo Rena J, Mowery-Rushton Patricia A, Serrano Moises A, Hensel Charles H, Wassman E Robe
Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population.
Molecular genetics & genomic medicine 2023 2 e2160.
Hsu Rai-Hseng, Lee Chen-Hao, Chien Yin-Hsiu, Lin Shuan-Pei, Hung Miao-Zi, Chen Nai-Chi, Lin Yi-Lin, Hwu Wuh-Liang, Lee Ni-Chu
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