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Saima Riazuddin

Showing results (41-50 of 134) with videos related to

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Human Genetics|October 27, 2006
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3Shahid Y Khan, Saima Riazuddin, Muhammad Tariq, et al.
Plos One|October 17, 2015
Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic FamilyKunjan Patel, Arnaud P Giese, J M Grossheim, et al.
Pigment Cell & Melanoma Research|September 27, 2013
Increasing the complexity: new genes and new types of albinismLluís Montoliu, Karen Grønskov, Ai-Hua Wei, et al.
BMC Medical Genetics|February 11, 2011
Variable expressivity of FGF3 mutations associated with deafness and LAMM syndromeSaima Riazuddin, Zubair M Ahmed, Rashmi S Hegde, et al.
Journal of Medical Genetics|March 25, 2018
Inframe deletion of human <i>ESPN</i> is associated with deafness, vestibulopathy and vision impairmentZubair M Ahmed, Thomas J Jaworek, Gowri N Sarangdhar, et al.
European Journal of Human Genetics : EJHG|July 16, 2009
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3Shahid Yar Khan, Saima Riazuddin, Mohsin Shahzad, et al.
Molecular Vision|December 6, 2008
Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degenerationZubair M Ahmed, Sten Kjellstrom, Ricky J L Haywood-Watson, et al.
Orphanet Journal of Rare Diseases|June 28, 2012
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani populationThomas J Jaworek, Tasleem Kausar, Shannon M Bell, et al.
Nature Communications|June 24, 2021
CIB2 regulates mTORC1 signaling and is essential for autophagy and visual functionSaumil Sethna, Patrick A Scott, Arnaud P J Giese, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|October 12, 2011
Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani familiesMuhammad Iqbal, Muhammad Asif Naeem, S Amer Riazuddin, et al.
Pageof 14

Showing results (41-50 of 134) with videos related to

Sort By:
Pageof 14
Human Genetics|October 27, 2006
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3Shahid Y Khan, Saima Riazuddin, Muhammad Tariq, et al.
Plos One|October 17, 2015
Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic FamilyKunjan Patel, Arnaud P Giese, J M Grossheim, et al.
Pigment Cell & Melanoma Research|September 27, 2013
Increasing the complexity: new genes and new types of albinismLluís Montoliu, Karen Grønskov, Ai-Hua Wei, et al.
BMC Medical Genetics|February 11, 2011
Variable expressivity of FGF3 mutations associated with deafness and LAMM syndromeSaima Riazuddin, Zubair M Ahmed, Rashmi S Hegde, et al.
Journal of Medical Genetics|March 25, 2018
Inframe deletion of human <i>ESPN</i> is associated with deafness, vestibulopathy and vision impairmentZubair M Ahmed, Thomas J Jaworek, Gowri N Sarangdhar, et al.
European Journal of Human Genetics : EJHG|July 16, 2009
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3Shahid Yar Khan, Saima Riazuddin, Mohsin Shahzad, et al.
Molecular Vision|December 6, 2008
Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degenerationZubair M Ahmed, Sten Kjellstrom, Ricky J L Haywood-Watson, et al.
Orphanet Journal of Rare Diseases|June 28, 2012
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani populationThomas J Jaworek, Tasleem Kausar, Shannon M Bell, et al.
Nature Communications|June 24, 2021
CIB2 regulates mTORC1 signaling and is essential for autophagy and visual functionSaumil Sethna, Patrick A Scott, Arnaud P J Giese, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|October 12, 2011
Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani familiesMuhammad Iqbal, Muhammad Asif Naeem, S Amer Riazuddin, et al.
Pageof 14