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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 7, 2009
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
Elizabeth A Varga, Matthew Pastore, Thomas Prior, et al.
Human Mutation
|
January 17, 2002
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
Gail E Herman, Kevin Kopacz, Wei Zhao, et al.
Human Molecular Genetics
|
November 3, 2009
Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos
David Cunningham, Tiffany Talabere, Natalie Bir, et al.
American Journal of Medical Genetics. Part A
|
February 9, 2007
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly
Gail E Herman, Eric Butter, Benedicta Enrile, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2014
Analysis of two candidate genes for Basan syndrome
Katherine C Marks, Wesley R Banks, David Cunningham, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 17, 2007
Genetic testing in autism: how much is enough?
Gail E Herman, Nathan Henninger, Karen Ratliff-Schaub, et al.
Molecular Genetics and Metabolism
|
January 11, 2005
Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme
Hugo Caldas, David Cunningham, Xiaojian Wang, et al.
Molecular Genetics and Metabolism
|
July 28, 2009
Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse
David Cunningham, Kaitlyn Spychala, Keith W McLarren, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2010
A tale of two deletions: a report of two novel 20p13 --> pter deletions
Anna K McGill, Matthew T Pastore, Gail E Herman, et al.
Human Molecular Genetics
|
February 6, 2015
Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development
David Cunningham, Andrea E DeBarber, Natalie Bir, et al.
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of 5
Search research articles
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Showing results (11-20 of 41) with videos related to
Sort By:
Page
of 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 7, 2009
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
Elizabeth A Varga, Matthew Pastore, Thomas Prior, et al.
Human Mutation
|
January 17, 2002
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
Gail E Herman, Kevin Kopacz, Wei Zhao, et al.
Human Molecular Genetics
|
November 3, 2009
Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos
David Cunningham, Tiffany Talabere, Natalie Bir, et al.
American Journal of Medical Genetics. Part A
|
February 9, 2007
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly
Gail E Herman, Eric Butter, Benedicta Enrile, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2014
Analysis of two candidate genes for Basan syndrome
Katherine C Marks, Wesley R Banks, David Cunningham, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 17, 2007
Genetic testing in autism: how much is enough?
Gail E Herman, Nathan Henninger, Karen Ratliff-Schaub, et al.
Molecular Genetics and Metabolism
|
January 11, 2005
Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme
Hugo Caldas, David Cunningham, Xiaojian Wang, et al.
Molecular Genetics and Metabolism
|
July 28, 2009
Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse
David Cunningham, Kaitlyn Spychala, Keith W McLarren, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2010
A tale of two deletions: a report of two novel 20p13 --> pter deletions
Anna K McGill, Matthew T Pastore, Gail E Herman, et al.
Human Molecular Genetics
|
February 6, 2015
Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development
David Cunningham, Andrea E DeBarber, Natalie Bir, et al.
Page
of 5