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Pediatric Research
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July 4, 2018
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures
Jennifer A Wambach, Daniel J Wegner, Ping Yang, et al.
Journal of Clinical and Translational Science
|
January 12, 2026
Developing a genetic return of results service core
Jennifer A McKenzie, Erin McRoy, Kevin M Bowling, et al.
Plos One
|
May 21, 2010
Generalized connective tissue disease in Crtap-/- mouse
Dustin Baldridge, Jennifer Lennington, MaryAnn Weis, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
September 15, 2010
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome
Brian P Kelley, Fransiska Malfait, Luisa Bonafe, et al.
Molecular Genetics and Metabolism
|
August 20, 2021
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA
Thomas Boulin, Omar Itani, Sonia El Mouridi, et al.
Cell Reports
|
November 8, 2018
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome
Cheng Cheng, Pan-Yue Deng, Yoshiho Ikeuchi, et al.
Journal of Neurodevelopmental Disorders
|
April 17, 2024
The Brain Gene Registry: a data snapshot
Dustin Baldridge, Levi Kaster, Catherine Sancimino, et al.
American Journal of Human Genetics
|
November 12, 2018
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome
Jennifer A Wambach, Daniel J Wegner, Nivedita Patni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 7, 2023
Clinical variants paired with phenotype: A rich resource for brain gene curation
Maya Chopra, Juliann M Savatt, Taylor I Bingaman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Shilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
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of 5
Search research articles
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Showing results (21-30 of 49) with videos related to
Sort By:
Page
of 5
Pediatric Research
|
July 4, 2018
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures
Jennifer A Wambach, Daniel J Wegner, Ping Yang, et al.
Journal of Clinical and Translational Science
|
January 12, 2026
Developing a genetic return of results service core
Jennifer A McKenzie, Erin McRoy, Kevin M Bowling, et al.
Plos One
|
May 21, 2010
Generalized connective tissue disease in Crtap-/- mouse
Dustin Baldridge, Jennifer Lennington, MaryAnn Weis, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
September 15, 2010
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome
Brian P Kelley, Fransiska Malfait, Luisa Bonafe, et al.
Molecular Genetics and Metabolism
|
August 20, 2021
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA
Thomas Boulin, Omar Itani, Sonia El Mouridi, et al.
Cell Reports
|
November 8, 2018
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome
Cheng Cheng, Pan-Yue Deng, Yoshiho Ikeuchi, et al.
Journal of Neurodevelopmental Disorders
|
April 17, 2024
The Brain Gene Registry: a data snapshot
Dustin Baldridge, Levi Kaster, Catherine Sancimino, et al.
American Journal of Human Genetics
|
November 12, 2018
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome
Jennifer A Wambach, Daniel J Wegner, Nivedita Patni, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 7, 2023
Clinical variants paired with phenotype: A rich resource for brain gene curation
Maya Chopra, Juliann M Savatt, Taylor I Bingaman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Shilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
Page
of 5