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Showing results (411-420 of 456) with videos related to

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Prenatal Diagnosis|September 13, 2016
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testingAmy M Breman, Jennifer C Chow, Lance U'Ren, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Molecular diagnostic experience of whole-exome sequencing in adult patientsJennifer E Posey, Jill A Rosenfeld, Regis A James, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencingYanming Feng, Xiaoyan Ge, Linyan Meng, et al.
The New England Journal of Medicine|December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosisRonald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Journal of Medical Genetics|March 18, 2009
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disordersS Ben-Shachar, B Lanpher, J R German, et al.
Nature Genetics|January 13, 2009
Increased LIS1 expression affects human and mouse brain developmentWeimin Bi, Tamar Sapir, Oleg A Shchelochkov, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2006
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio, Ping Fang, Fernando Scaglia, et al.
American Journal of Human Genetics|April 2, 2019
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary ConditionsErfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, et al.
Biological Psychiatry|December 24, 2014
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?Pauline Chaste, Lambertus Klei, Stephan J Sanders, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2007
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome regionJonathan S Berg, Nicola Brunetti-Pierri, Sarika U Peters, et al.
Pageof 46

Showing results (411-420 of 456) with videos related to

Sort By:
Pageof 46
Prenatal Diagnosis|September 13, 2016
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testingAmy M Breman, Jennifer C Chow, Lance U'Ren, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Molecular diagnostic experience of whole-exome sequencing in adult patientsJennifer E Posey, Jill A Rosenfeld, Regis A James, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencingYanming Feng, Xiaoyan Ge, Linyan Meng, et al.
The New England Journal of Medicine|December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosisRonald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Journal of Medical Genetics|March 18, 2009
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disordersS Ben-Shachar, B Lanpher, J R German, et al.
Nature Genetics|January 13, 2009
Increased LIS1 expression affects human and mouse brain developmentWeimin Bi, Tamar Sapir, Oleg A Shchelochkov, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2006
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio, Ping Fang, Fernando Scaglia, et al.
American Journal of Human Genetics|April 2, 2019
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary ConditionsErfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, et al.
Biological Psychiatry|December 24, 2014
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?Pauline Chaste, Lambertus Klei, Stephan J Sanders, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2007
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome regionJonathan S Berg, Nicola Brunetti-Pierri, Sarika U Peters, et al.
Pageof 46