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Clinical Genetics
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February 25, 2026
Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions
Sarah Araji, Xiaonan Zhao, Jill A Rosenfeld, et al.
Molecular Genetics and Metabolism
|
August 4, 2016
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant
Taraka R Donti, Ruchi Masand, Daryl A Scott, et al.
Journal of Pediatric Genetics
|
November 6, 2019
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability
Elizabeth Thomas, Andrea M Lewis, Yaping Yang, et al.
Cardiology in the Young
|
July 2, 2021
The frequency and efficacy of genetic testing in individuals with scimitar syndrome
Tyler A Fick, Daryl A Scott, Philip J Lupo, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2024
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability
Eric C Kao, Elizabeth A Mizerik, Carlos A Bacino, et al.
American Journal of Medical Genetics. Part A
|
June 15, 2011
Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22
Elliott G Richards, Hitisha P Zaveri, Varina L Wolf, et al.
American Journal of Medical Genetics. Part A
|
January 27, 2010
Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25
Christian B Ricks, Ruchi Masand, Ping Fang, et al.
European Journal of Human Genetics : EJHG
|
December 6, 2022
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
Raymond Belanger Deloge, Xiaonan Zhao, Pamela N Luna, et al.
American Journal of Medical Genetics. Part A
|
May 26, 2020
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes
Shelley Gibson, Mahshid S Azamian, Seema R Lalani, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2024
Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome
Emily R Waskow, , Lisa T Emrick, et al.
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of 13
Search research articles
Search
Showing results (11-20 of 128) with videos related to
Sort By:
Page
of 13
Clinical Genetics
|
February 25, 2026
Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions
Sarah Araji, Xiaonan Zhao, Jill A Rosenfeld, et al.
Molecular Genetics and Metabolism
|
August 4, 2016
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant
Taraka R Donti, Ruchi Masand, Daryl A Scott, et al.
Journal of Pediatric Genetics
|
November 6, 2019
Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability
Elizabeth Thomas, Andrea M Lewis, Yaping Yang, et al.
Cardiology in the Young
|
July 2, 2021
The frequency and efficacy of genetic testing in individuals with scimitar syndrome
Tyler A Fick, Daryl A Scott, Philip J Lupo, et al.
American Journal of Medical Genetics. Part A
|
August 31, 2024
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability
Eric C Kao, Elizabeth A Mizerik, Carlos A Bacino, et al.
American Journal of Medical Genetics. Part A
|
June 15, 2011
Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22
Elliott G Richards, Hitisha P Zaveri, Varina L Wolf, et al.
American Journal of Medical Genetics. Part A
|
January 27, 2010
Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25
Christian B Ricks, Ruchi Masand, Ping Fang, et al.
European Journal of Human Genetics : EJHG
|
December 6, 2022
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
Raymond Belanger Deloge, Xiaonan Zhao, Pamela N Luna, et al.
American Journal of Medical Genetics. Part A
|
May 26, 2020
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes
Shelley Gibson, Mahshid S Azamian, Seema R Lalani, et al.
American Journal of Medical Genetics. Part A
|
August 21, 2024
Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome
Emily R Waskow, , Lisa T Emrick, et al.
Page
of 13