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American Journal of Human Genetics
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August 4, 2016
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Anna Lindstrand, Stephan Frangakis, Claudia M B Carvalho, et al.
American Journal of Human Genetics
|
April 22, 2014
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome
Anna Lindstrand, Erica E Davis, Claudia M B Carvalho, et al.
Human Mutation
|
March 1, 2021
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome
Michael M Khayat, He Li, Varuna Chander, et al.
NPJ Genomic Medicine
|
August 28, 2019
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Pamela Feliciano, Xueya Zhou, Irina Astrovskaya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 14, 2021
Neptune: an environment for the delivery of genomic medicine
Venner Eric, Victoria Yi, David Murdock, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 6, 2006
Identification of genes subject to positive selection in uropathogenic strains of Escherichia coli: a comparative genomics approach
Swaine L Chen, Chia-Seui Hung, Jian Xu, et al.
Human Mutation
|
September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism
Varuna Chander, Medhat Mahmoud, Jianhong Hu, et al.
Journal of the National Cancer Institute
|
December 29, 2020
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group
He Li, Saumya D Sisoudiya, Bailey A Martin-Giacalone, et al.
Genetics in Medicine Open
|
January 16, 2026
An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports <i>KAT6B</i> as a novel neuroblastoma susceptibility gene
Hyunjung Gu, Yao Yu, Saumya Dushyant Sisoudiya, et al.
Nature Medicine
|
September 4, 2012
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
Jeremy C McIntyre, Erica E Davis, Ariell Joiner, et al.
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of 6
Search research articles
Search
Showing results (21-30 of 52) with videos related to
Sort By:
Page
of 6
American Journal of Human Genetics
|
August 4, 2016
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Anna Lindstrand, Stephan Frangakis, Claudia M B Carvalho, et al.
American Journal of Human Genetics
|
April 22, 2014
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome
Anna Lindstrand, Erica E Davis, Claudia M B Carvalho, et al.
Human Mutation
|
March 1, 2021
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome
Michael M Khayat, He Li, Varuna Chander, et al.
NPJ Genomic Medicine
|
August 28, 2019
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Pamela Feliciano, Xueya Zhou, Irina Astrovskaya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 14, 2021
Neptune: an environment for the delivery of genomic medicine
Venner Eric, Victoria Yi, David Murdock, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 6, 2006
Identification of genes subject to positive selection in uropathogenic strains of Escherichia coli: a comparative genomics approach
Swaine L Chen, Chia-Seui Hung, Jian Xu, et al.
Human Mutation
|
September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism
Varuna Chander, Medhat Mahmoud, Jianhong Hu, et al.
Journal of the National Cancer Institute
|
December 29, 2020
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group
He Li, Saumya D Sisoudiya, Bailey A Martin-Giacalone, et al.
Genetics in Medicine Open
|
January 16, 2026
An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports <i>KAT6B</i> as a novel neuroblastoma susceptibility gene
Hyunjung Gu, Yao Yu, Saumya Dushyant Sisoudiya, et al.
Nature Medicine
|
September 4, 2012
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
Jeremy C McIntyre, Erica E Davis, Ariell Joiner, et al.
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of 6