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Biochemical and Biophysical Research Communications
|
September 5, 2012
The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background
Abrar Hussain, Joy Armistead, Lara Gushulak, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
April 22, 2003
Disclosure, confidentiality, and families: experiences and attitudes of those with genetic versus nongenetic medical conditions
Laura Plantinga, Marvin R Natowicz, Nancy E Kass, et al.
Clinical Chemistry
|
April 29, 2006
Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease
Ilka Warshawsky, Olga B Chernova, Christian A Hübner, et al.
Biochemical and Biophysical Research Communications
|
March 24, 2019
Proteomic investigations of human HERC2 mutants: Insights into the pathobiology of a neurodevelopmental disorder
Joseph R Abraham, John Barnard, Heng Wang, et al.
American Journal of Medical Genetics. Part A
|
June 25, 2004
Medical privacy and the disclosure of personal medical information: the beliefs and experiences of those with genetic and other clinical conditions
Nancy E Kass, Sara Chandros Hull, Marvin R Natowicz, et al.
Frontiers in Psychiatry
|
November 6, 2023
Metabolomic biomarkers in autism: identification of complex dysregulations of cellular bioenergetics
Alan M Smith, Elizabeth L R Donley, Denise M Ney, et al.
The Journal of Biological Chemistry
|
December 26, 2001
V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme
Steven Pind, Elzbieta Slominski, Jill Mauthe, et al.
Scientific Reports
|
September 13, 2019
Proteomic Investigations of Autism Brain Identify Known and Novel Pathogenetic Processes
Joseph R Abraham, Nicholas Szoko, John Barnard, et al.
Human Genomics
|
March 2, 2018
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features
Georgios Kellaris, Kamal Khan, Shahid M Baig, et al.
Prenatal Diagnosis
|
April 15, 2024
Numbers of prenatal cell-free DNA screens performed: Results of a 2022 CAP exercise
Glenn E Palomaki, Philip Wyatt, Ross Rowsey, et al.
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of 5
Search research articles
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Showing results (21-30 of 46) with videos related to
Sort By:
Page
of 5
Biochemical and Biophysical Research Communications
|
September 5, 2012
The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background
Abrar Hussain, Joy Armistead, Lara Gushulak, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
April 22, 2003
Disclosure, confidentiality, and families: experiences and attitudes of those with genetic versus nongenetic medical conditions
Laura Plantinga, Marvin R Natowicz, Nancy E Kass, et al.
Clinical Chemistry
|
April 29, 2006
Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease
Ilka Warshawsky, Olga B Chernova, Christian A Hübner, et al.
Biochemical and Biophysical Research Communications
|
March 24, 2019
Proteomic investigations of human HERC2 mutants: Insights into the pathobiology of a neurodevelopmental disorder
Joseph R Abraham, John Barnard, Heng Wang, et al.
American Journal of Medical Genetics. Part A
|
June 25, 2004
Medical privacy and the disclosure of personal medical information: the beliefs and experiences of those with genetic and other clinical conditions
Nancy E Kass, Sara Chandros Hull, Marvin R Natowicz, et al.
Frontiers in Psychiatry
|
November 6, 2023
Metabolomic biomarkers in autism: identification of complex dysregulations of cellular bioenergetics
Alan M Smith, Elizabeth L R Donley, Denise M Ney, et al.
The Journal of Biological Chemistry
|
December 26, 2001
V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme
Steven Pind, Elzbieta Slominski, Jill Mauthe, et al.
Scientific Reports
|
September 13, 2019
Proteomic Investigations of Autism Brain Identify Known and Novel Pathogenetic Processes
Joseph R Abraham, Nicholas Szoko, John Barnard, et al.
Human Genomics
|
March 2, 2018
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features
Georgios Kellaris, Kamal Khan, Shahid M Baig, et al.
Prenatal Diagnosis
|
April 15, 2024
Numbers of prenatal cell-free DNA screens performed: Results of a 2022 CAP exercise
Glenn E Palomaki, Philip Wyatt, Ross Rowsey, et al.
Page
of 5