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Donna M Martin

Showing results (61-70 of 104) with videos related to

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American Journal of Medical Genetics|July 19, 2002
Exclusion of PITX2 mutations as a major cause of CHARGE associationDonna M Martin, Frank J Probst, Sharon E Fox, et al.
Neuroimage|October 29, 2011
The impact of serotonin transporter (5-HTTLPR) genotype on the development of resting-state functional connectivity in children and adolescents: a preliminary reportJillian Lee Wiggins, Jirair K Bedoyan, Scott J Peltier, et al.
Molecular Therapy. Methods & Clinical Development|November 3, 2021
<i>GJB2</i> gene therapy and conditional deletion reveal developmental stage-dependent effects on inner ear structure and functionJingying Guo, Xiaobo Ma, Jennifer M Skidmore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 29, 2022
Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelinesSara M Berger, Paul S Appelbaum, Karolynn Siegel, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|March 7, 2003
Characterization of a stapes ankylosis family with a NOG mutationDavid J Brown, Theresa B Kim, Elizabeth M Petty, et al.
American Journal of Human Genetics|June 29, 2002
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding nogginDavid J Brown, Theresa B Kim, Elizabeth M Petty, et al.
Frontiers in Cell and Developmental Biology|June 14, 2021
Meis2 Is Required for Inner Ear Formation and Proper Morphogenesis of the CochleaMaría Beatriz Durán Alonso, Victor Vendrell, Iris López-Hernández, et al.
Human Molecular Genetics|July 2, 2010
CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesisGabriel E Zentner, Elizabeth A Hurd, Michael P Schnetz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Genetic analysis of CHARGE syndrome identifies overlapping molecular biologyAmanda Moccia, Anshika Srivastava, Jennifer M Skidmore, et al.
American Journal of Medical Genetics. Part A|August 1, 2015
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomesKacie N Riley, Lisa M Catalano, John A Bernat, et al.
Pageof 11

Showing results (61-70 of 104) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics|July 19, 2002
Exclusion of PITX2 mutations as a major cause of CHARGE associationDonna M Martin, Frank J Probst, Sharon E Fox, et al.
Neuroimage|October 29, 2011
The impact of serotonin transporter (5-HTTLPR) genotype on the development of resting-state functional connectivity in children and adolescents: a preliminary reportJillian Lee Wiggins, Jirair K Bedoyan, Scott J Peltier, et al.
Molecular Therapy. Methods & Clinical Development|November 3, 2021
<i>GJB2</i> gene therapy and conditional deletion reveal developmental stage-dependent effects on inner ear structure and functionJingying Guo, Xiaobo Ma, Jennifer M Skidmore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 29, 2022
Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelinesSara M Berger, Paul S Appelbaum, Karolynn Siegel, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|March 7, 2003
Characterization of a stapes ankylosis family with a NOG mutationDavid J Brown, Theresa B Kim, Elizabeth M Petty, et al.
American Journal of Human Genetics|June 29, 2002
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding nogginDavid J Brown, Theresa B Kim, Elizabeth M Petty, et al.
Frontiers in Cell and Developmental Biology|June 14, 2021
Meis2 Is Required for Inner Ear Formation and Proper Morphogenesis of the CochleaMaría Beatriz Durán Alonso, Victor Vendrell, Iris López-Hernández, et al.
Human Molecular Genetics|July 2, 2010
CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesisGabriel E Zentner, Elizabeth A Hurd, Michael P Schnetz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Genetic analysis of CHARGE syndrome identifies overlapping molecular biologyAmanda Moccia, Anshika Srivastava, Jennifer M Skidmore, et al.
American Journal of Medical Genetics. Part A|August 1, 2015
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomesKacie N Riley, Lisa M Catalano, John A Bernat, et al.
Pageof 11