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Claire J Sineni

Showing results (1-10 of 7) with videos related to

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Human Genetics|June 9, 2019
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing lossClaire J Sineni, Muzeyyen Yildirim-Baylan, Shengru Guo, et al.
Clinical Genetics|August 22, 2019
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing lossOscar Diaz-Horta, Guney Bademci, Suna Tokgoz-Yilmaz, et al.
Journal of Inherited Metabolic Disease|August 5, 2020
A founder noncoding GALT variant interfering with splicing causes galactosemiaKumarie Latchman, Jeanette Brown, Claire J Sineni, et al.
Plos One|December 1, 2018
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disabilityMegan McSherry, Katherine E Masih, Nursel H Elcioglu, et al.
The Journal of Clinical Investigation|May 6, 2020
Long-range cis-regulatory elements controlling GDF6 expression are essential for ear developmentGuney Bademci, Clemer Abad, Filiz B Cengiz, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 21, 2022
Mutations in <i>MINAR2</i> encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and miceGuney Bademci, María Lachgar-Ruiz, Mangesh Deokar, et al.
Human Molecular Genetics|December 19, 2018
FOXF2 is required for cochlear development in humans and miceGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Human Genetics|June 9, 2019
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing lossClaire J Sineni, Muzeyyen Yildirim-Baylan, Shengru Guo, et al.
Clinical Genetics|August 22, 2019
Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing lossOscar Diaz-Horta, Guney Bademci, Suna Tokgoz-Yilmaz, et al.
Journal of Inherited Metabolic Disease|August 5, 2020
A founder noncoding GALT variant interfering with splicing causes galactosemiaKumarie Latchman, Jeanette Brown, Claire J Sineni, et al.
Plos One|December 1, 2018
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disabilityMegan McSherry, Katherine E Masih, Nursel H Elcioglu, et al.
The Journal of Clinical Investigation|May 6, 2020
Long-range cis-regulatory elements controlling GDF6 expression are essential for ear developmentGuney Bademci, Clemer Abad, Filiz B Cengiz, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 21, 2022
Mutations in <i>MINAR2</i> encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and miceGuney Bademci, María Lachgar-Ruiz, Mangesh Deokar, et al.
Human Molecular Genetics|December 19, 2018
FOXF2 is required for cochlear development in humans and miceGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
Pageof 1