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Dustin Baldridge

Showing results (31-40 of 49) with videos related to

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Plos Genetics|March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndromeMichael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.
Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.
American Journal of Human Genetics|April 6, 2010
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfectaYasemin Alanay, Hrispima Avaygan, Natalia Camacho, et al.
Human Mutation|June 21, 2008
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfectaDustin Baldridge, Ulrike Schwarze, Roy Morello, et al.
Therapeutic Advances in Rare Disease|July 14, 2025
Finding buried genetic test results in the electronic health record is inefficient and variable across institutionsOlivia J Veatch, Jomol Mathew, Shira Rockowitz, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 5, 2022
A dominant negative variant of <i>RAB5B</i> disrupts maturation of surfactant protein B and surfactant protein CHuiyan Huang, Jiehong Pan, David R Spielberg, et al.
Human Molecular Genetics|December 30, 2025
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmiaHieu D Hoang, Rebecca C Spillmann, Daniel J Wegner, et al.
American Journal of Human Genetics|January 14, 2020
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 DeficiencyDavid B Beck, Ana Petracovici, Chongsheng He, et al.
Plos Genetics|November 7, 2023
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signalingRonit Marom, Bo Zhang, Megan E Washington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2024
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorderJennefer N Kohler, Nicole R Legro, Dustin Baldridge, et al.
Pageof 5

Showing results (31-40 of 49) with videos related to

Sort By:
Pageof 5
Plos Genetics|March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndromeMichael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.
Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.
American Journal of Human Genetics|April 6, 2010
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfectaYasemin Alanay, Hrispima Avaygan, Natalia Camacho, et al.
Human Mutation|June 21, 2008
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfectaDustin Baldridge, Ulrike Schwarze, Roy Morello, et al.
Therapeutic Advances in Rare Disease|July 14, 2025
Finding buried genetic test results in the electronic health record is inefficient and variable across institutionsOlivia J Veatch, Jomol Mathew, Shira Rockowitz, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 5, 2022
A dominant negative variant of <i>RAB5B</i> disrupts maturation of surfactant protein B and surfactant protein CHuiyan Huang, Jiehong Pan, David R Spielberg, et al.
Human Molecular Genetics|December 30, 2025
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmiaHieu D Hoang, Rebecca C Spillmann, Daniel J Wegner, et al.
American Journal of Human Genetics|January 14, 2020
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 DeficiencyDavid B Beck, Ana Petracovici, Chongsheng He, et al.
Plos Genetics|November 7, 2023
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signalingRonit Marom, Bo Zhang, Megan E Washington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2024
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorderJennefer N Kohler, Nicole R Legro, Dustin Baldridge, et al.
Pageof 5