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Cold Spring Harbor Molecular Case Studies
|
January 10, 2019
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition
David R Murdock, Yunyun Jiang, Michael Wangler, et al.
Genome Biology
|
December 21, 2021
Hidden biases in germline structural variant detection
Michael M Khayat, Sayed Mohammad Ebrahim Sahraeian, Samantha Zarate, et al.
American Journal of Human Genetics
|
June 15, 2021
Exome variant discrepancies due to reference-genome differences
He Li, Moez Dawood, Michael M Khayat, et al.
Pediatric Diabetes
|
August 13, 2021
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young
Mustafa Tosur, Claudia Soler-Alfonso, Katie M Chan, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
The phenotypic spectrum of Xia-Gibbs syndrome
Yunyun Jiang, Michael F Wangler, Amy L McGuire, 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.
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.
HGG Advances
|
December 24, 2021
<i>AHDC1</i> missense mutations in Xia-Gibbs syndrome
Michael M Khayat, Jianhong Hu, Yunyun Jiang, et al.
HGG Advances
|
March 5, 2021
Germline mutation in <i>POLR2A</i>: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation
Adam W Hansen, Payal Arora, Michael M Khayat, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 16) with videos related to
Sort By:
Page
of 2
Cold Spring Harbor Molecular Case Studies
|
January 10, 2019
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition
David R Murdock, Yunyun Jiang, Michael Wangler, et al.
Genome Biology
|
December 21, 2021
Hidden biases in germline structural variant detection
Michael M Khayat, Sayed Mohammad Ebrahim Sahraeian, Samantha Zarate, et al.
American Journal of Human Genetics
|
June 15, 2021
Exome variant discrepancies due to reference-genome differences
He Li, Moez Dawood, Michael M Khayat, et al.
Pediatric Diabetes
|
August 13, 2021
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young
Mustafa Tosur, Claudia Soler-Alfonso, Katie M Chan, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
The phenotypic spectrum of Xia-Gibbs syndrome
Yunyun Jiang, Michael F Wangler, Amy L McGuire, 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.
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.
HGG Advances
|
December 24, 2021
<i>AHDC1</i> missense mutations in Xia-Gibbs syndrome
Michael M Khayat, Jianhong Hu, Yunyun Jiang, et al.
HGG Advances
|
March 5, 2021
Germline mutation in <i>POLR2A</i>: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation
Adam W Hansen, Payal Arora, Michael M Khayat, et al.
Page
of 2