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Showing results (1011-1020 of 1,084) with videos related to
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American Journal of Human Genetics
|
December 27, 2016
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, et al.
Plos Genetics
|
March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.
American Journal of Medical Genetics. Part A
|
April 13, 2021
Heterozygous variants in SPTBN1 cause intellectual disability and autism
Jill A Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 15, 2022
Fujian cytoplasmic male sterility and the fertility restorer gene <i>OsRf19</i> provide a promising breeding system for hybrid rice
Haichao Jiang, Qing Lu, Shuqing Qiu, 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 patients
Jennifer E Posey, Jill A Rosenfeld, Regis A James, et al.
Science (New York, N.Y.)
|
June 13, 2024
Artemisinins ameliorate polycystic ovarian syndrome by mediating LONP1-CYP11A1 interaction
Yang Liu, Jing-Jing Jiang, Shao-Yue Du, et al.
Cell Stem Cell
|
November 26, 2019
Patient-Derived Organoids Predict Chemoradiation Responses of Locally Advanced Rectal Cancer
Ye Yao, Xiaoya Xu, Lifeng Yang, 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 sequencing
Yanming Feng, Xiaoyan Ge, Linyan Meng, et al.
Genome Medicine
|
September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Elizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
The New England Journal of Medicine
|
October 4, 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
Yaping Yang, Donna M Muzny, Jeffrey G Reid, et al.
Page
of 109
Search research articles
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Showing results (1011-1020 of 1,084) with videos related to
Sort By:
Page
of 109
American Journal of Human Genetics
|
December 27, 2016
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, et al.
Plos Genetics
|
March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.
American Journal of Medical Genetics. Part A
|
April 13, 2021
Heterozygous variants in SPTBN1 cause intellectual disability and autism
Jill A Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 15, 2022
Fujian cytoplasmic male sterility and the fertility restorer gene <i>OsRf19</i> provide a promising breeding system for hybrid rice
Haichao Jiang, Qing Lu, Shuqing Qiu, 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 patients
Jennifer E Posey, Jill A Rosenfeld, Regis A James, et al.
Science (New York, N.Y.)
|
June 13, 2024
Artemisinins ameliorate polycystic ovarian syndrome by mediating LONP1-CYP11A1 interaction
Yang Liu, Jing-Jing Jiang, Shao-Yue Du, et al.
Cell Stem Cell
|
November 26, 2019
Patient-Derived Organoids Predict Chemoradiation Responses of Locally Advanced Rectal Cancer
Ye Yao, Xiaoya Xu, Lifeng Yang, 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 sequencing
Yanming Feng, Xiaoyan Ge, Linyan Meng, et al.
Genome Medicine
|
September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Elizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
The New England Journal of Medicine
|
October 4, 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
Yaping Yang, Donna M Muzny, Jeffrey G Reid, et al.
Page
of 109