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Donna M Martin

Showing results (71-80 of 104) with videos related to

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Human Molecular Genetics|December 10, 2015
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndromeAnshika Srivastava, K C Ritesh, Yao-Chang Tsan, et al.
American Journal of Medical Genetics. Part A|February 14, 2009
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomaliesDaniel R Jensen, Donna M Martin, Stephen Gebarski, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 10, 2018
Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndromeCatherine Bélanger, Félix-Antoine Bérubé-Simard, Elizabeth Leduc, et al.
JCI Insight|February 23, 2018
CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear developmentHui Yao, Sophie F Hill, Jennifer M Skidmore, et al.
Human Molecular Genetics|September 11, 2003
Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereociliaI Jill Karolyi, Frank J Probst, Lisa Beyer, et al.
Human Molecular Genetics|September 13, 2013
CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndromeJoseph A Micucci, Wanda S Layman, Elizabeth A Hurd, et al.
Human Genetics|September 5, 2023
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueductIsabelle Roux, Cristina Fenollar-Ferrer, Hyun Jae Lee, et al.
Hearing Research|August 31, 2011
Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndromeElizabeth A Hurd, Meredith E Adams, Wanda S Layman, et al.
American Journal of Medical Genetics. Part A|November 6, 2024
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case SeriesSara Gracie, Prasannakumar Deshpande, Patrik Hollos, et al.
Human Genetics|February 23, 2011
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndromeLinda M Reis, Rebecca C Tyler, Kala F Schilter, et al.
Pageof 11

Showing results (71-80 of 104) with videos related to

Sort By:
Pageof 11
Human Molecular Genetics|December 10, 2015
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndromeAnshika Srivastava, K C Ritesh, Yao-Chang Tsan, et al.
American Journal of Medical Genetics. Part A|February 14, 2009
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomaliesDaniel R Jensen, Donna M Martin, Stephen Gebarski, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 10, 2018
Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndromeCatherine Bélanger, Félix-Antoine Bérubé-Simard, Elizabeth Leduc, et al.
JCI Insight|February 23, 2018
CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear developmentHui Yao, Sophie F Hill, Jennifer M Skidmore, et al.
Human Molecular Genetics|September 11, 2003
Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereociliaI Jill Karolyi, Frank J Probst, Lisa Beyer, et al.
Human Molecular Genetics|September 13, 2013
CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndromeJoseph A Micucci, Wanda S Layman, Elizabeth A Hurd, et al.
Human Genetics|September 5, 2023
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueductIsabelle Roux, Cristina Fenollar-Ferrer, Hyun Jae Lee, et al.
Hearing Research|August 31, 2011
Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndromeElizabeth A Hurd, Meredith E Adams, Wanda S Layman, et al.
American Journal of Medical Genetics. Part A|November 6, 2024
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case SeriesSara Gracie, Prasannakumar Deshpande, Patrik Hollos, et al.
Human Genetics|February 23, 2011
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndromeLinda M Reis, Rebecca C Tyler, Kala F Schilter, et al.
Pageof 11