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Journal of Child Neurology
|
November 22, 2018
Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature
John C Herriges, Ellen M Arch, Pamela A Burgio, et al.
European Journal of Human Genetics : EJHG
|
July 8, 2025
Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family
Ting Wen, Gulsen Akay, Janice Palumbos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2012
Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis
Allen N Lamb, Jill A Rosenfeld, Justine Coppinger, et al.
Genome Research
|
March 9, 2011
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH
Nicholas J Neill, Blake C Ballif, Allen N Lamb, et al.
American Journal of Medical Genetics. Part A
|
June 15, 2011
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate
Trilochan Sahoo, Aaron Theisen, Pedro A Sanchez-Lara, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 28, 2011
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
Trilochan Sahoo, Aaron Theisen, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2018
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Darrel Waggoner, Karen E Wain, Adrian M Dubuc, et al.
European Journal of Human Genetics : EJHG
|
July 1, 2010
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome
Angela L Duker, Blake C Ballif, Erawati V Bawle, et al.
American Journal of Medical Genetics. Part A
|
March 11, 2015
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster
Jill A Rosenfeld, Joyce E Fox, Maria Descartes, et al.
Prenatal Diagnosis
|
June 22, 2011
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes
Lisa G Shaffer, Justine Coppinger, S Annie Morton, et al.
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Search research articles
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Showing results (11-20 of 29) with videos related to
Sort By:
Page
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Journal of Child Neurology
|
November 22, 2018
Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature
John C Herriges, Ellen M Arch, Pamela A Burgio, et al.
European Journal of Human Genetics : EJHG
|
July 8, 2025
Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family
Ting Wen, Gulsen Akay, Janice Palumbos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2012
Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis
Allen N Lamb, Jill A Rosenfeld, Justine Coppinger, et al.
Genome Research
|
March 9, 2011
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH
Nicholas J Neill, Blake C Ballif, Allen N Lamb, et al.
American Journal of Medical Genetics. Part A
|
June 15, 2011
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate
Trilochan Sahoo, Aaron Theisen, Pedro A Sanchez-Lara, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 28, 2011
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
Trilochan Sahoo, Aaron Theisen, Jill A Rosenfeld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2018
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Darrel Waggoner, Karen E Wain, Adrian M Dubuc, et al.
European Journal of Human Genetics : EJHG
|
July 1, 2010
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome
Angela L Duker, Blake C Ballif, Erawati V Bawle, et al.
American Journal of Medical Genetics. Part A
|
March 11, 2015
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster
Jill A Rosenfeld, Joyce E Fox, Maria Descartes, et al.
Prenatal Diagnosis
|
June 22, 2011
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes
Lisa G Shaffer, Justine Coppinger, S Annie Morton, et al.
Page
of 3