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Child Neurology Open|May 16, 2017
Further Validation of the <i>SIGMAR1</i> c.151+1G>T Mutation as Cause of Distal Hereditary Motor NeuropathyJessica J Y Lee, Clara D M van Karnebeek, Britt Drögemoller, et al.
European Journal of Human Genetics : EJHG|November 21, 2013
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genesTracy Tucker, Farah R Zahir, Malachi Griffith, et al.
Fetal Diagnosis and Therapy|July 2, 2003
Etiology and outcome of fetal echogenic bowel. Ten years of experienceAssaad K Kesrouani, Jean Guibourdenche, Françoise Muller, et al.
BMC Medical Genomics|March 29, 2011
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardationTracy Tucker, Alexandre Montpetit, David Chai, et al.
American Journal of Medical Genetics. Part A|December 17, 2019
Renpenning syndrome in a femaleRaymond Y Cho, Maria S Peñaherrera, Christele Du Souich, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in EZH2 cause Weaver syndromeWilliam T Gibson, Rebecca L Hood, Shing Hei Zhan, et al.
BMC Bioinformatics|October 4, 2007
Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray dataAgnes Baross, Allen D Delaney, H Irene Li, et al.
The Journal of Pathology|July 28, 2011
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalitiesKasmintan A Schrader, Alireza Heravi-Moussavi, Paula J Waters, et al.
Leukemia|March 23, 2024
The Eμ-Ret mouse is a novel model of hyperdiploid B-cell acute lymphoblastic leukemiaAli Farrokhi, Tanmaya Atre, Jenna Rever, et al.
American Journal of Medical Genetics. Part A|June 7, 2014
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosisAna S A Cohen, Katelin N Townsend, Qing-San Xiang, et al.
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