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Nursel H Elçioglu

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

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American Journal of Medical Genetics|September 5, 2002
Diagnostic dilemmas in the short rib-polydactyly syndrome groupNursel H Elçioglu, Christine M Hall
Pediatric Radiology|October 21, 2003
Metatropic dysplasia lethal variantsChristine M Hall, Nursel H Elçioglu
Pediatric Radiology|October 21, 2003
Recessive omodysplasia: five new cases and review of the literatureNursel H Elçioglu, Karl H Gustavson, Andrew O M Wilkie, et al.
American Journal of Human Genetics|June 3, 2008
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13Cecilia Giunta, Nursel H Elçioglu, Beate Albrecht, et al.
Molecular Vision|June 13, 2022
Novel <i>SIX6</i> mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmiaEvangelia S Panagiotou, Narcis Fernandez-Fuentes, Layal Abi Farraj, et al.
Nucleic Acids Research|December 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing dataHaowei Du, Zain Dardas, Angad Jolly, et al.
Human Molecular Genetics|November 10, 2011
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defectsKamron Khan, Clare V Logan, Martin McKibbin, et al.
Pageof 1

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

Sort By:
Pageof 1
American Journal of Medical Genetics|September 5, 2002
Diagnostic dilemmas in the short rib-polydactyly syndrome groupNursel H Elçioglu, Christine M Hall
Pediatric Radiology|October 21, 2003
Metatropic dysplasia lethal variantsChristine M Hall, Nursel H Elçioglu
Pediatric Radiology|October 21, 2003
Recessive omodysplasia: five new cases and review of the literatureNursel H Elçioglu, Karl H Gustavson, Andrew O M Wilkie, et al.
American Journal of Human Genetics|June 3, 2008
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13Cecilia Giunta, Nursel H Elçioglu, Beate Albrecht, et al.
Molecular Vision|June 13, 2022
Novel <i>SIX6</i> mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmiaEvangelia S Panagiotou, Narcis Fernandez-Fuentes, Layal Abi Farraj, et al.
Nucleic Acids Research|December 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing dataHaowei Du, Zain Dardas, Angad Jolly, et al.
Human Molecular Genetics|November 10, 2011
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defectsKamron Khan, Clare V Logan, Martin McKibbin, et al.
Pageof 1