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J H Smith

Showing results (471-480 of 588) with videos related to

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American Journal of Medical Genetics. Part A|September 30, 2015
PDZD7 and hearing loss: More than just a modifierKevin T Booth, Hela Azaiez, Kimia Kahrizi, et al.
Kidney International|June 17, 2020
Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndromeYuzhou Zhang, Robin A Kremsdorf, C John Sperati, et al.
Human Mutation|January 18, 2007
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locusShahid Y Khan, Zubair M Ahmed, Muhammad I Shabbir, et al.
The Journal of Clinical Investigation|January 4, 2003
Essential role for proteinase-activated receptor-2 in arthritisWilliam R Ferrell, John C Lockhart, Elizabeth B Kelso, et al.
The Annals of Otology, Rhinology, and Laryngology|March 20, 2015
Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing lossNaoko Sakuma, Hideaki Moteki, Hela Azaiez, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing lossNiloofar Bazazzadegan, Abraham M Sheffield, Masoomeh Sobhani, et al.
Clinical Genetics|June 2, 2016
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian familiesK Lebeko, C M Sloan-Heggen, J J N Noubiap, et al.
Research Square|February 13, 2023
Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness ProteomeMallory R Tollefson, Rose A Gogal, A Monique Weaver, et al.
Biophysical Journal|July 23, 2019
Structural Insights into Hearing Loss Genetics from Polarizable Protein RepackingMallory R Tollefson, Jacob M Litman, Guowei Qi, et al.
Blood|January 23, 2015
Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndromeElizabeth C Schramm, Lubka T Roumenina, Tania Rybkine, et al.
Pageof 59

Showing results (471-480 of 588) with videos related to

Sort By:
Pageof 59
American Journal of Medical Genetics. Part A|September 30, 2015
PDZD7 and hearing loss: More than just a modifierKevin T Booth, Hela Azaiez, Kimia Kahrizi, et al.
Kidney International|June 17, 2020
Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndromeYuzhou Zhang, Robin A Kremsdorf, C John Sperati, et al.
Human Mutation|January 18, 2007
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locusShahid Y Khan, Zubair M Ahmed, Muhammad I Shabbir, et al.
The Journal of Clinical Investigation|January 4, 2003
Essential role for proteinase-activated receptor-2 in arthritisWilliam R Ferrell, John C Lockhart, Elizabeth B Kelso, et al.
The Annals of Otology, Rhinology, and Laryngology|March 20, 2015
Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing lossNaoko Sakuma, Hideaki Moteki, Hela Azaiez, et al.
American Journal of Medical Genetics. Part A|April 13, 2011
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing lossNiloofar Bazazzadegan, Abraham M Sheffield, Masoomeh Sobhani, et al.
Clinical Genetics|June 2, 2016
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian familiesK Lebeko, C M Sloan-Heggen, J J N Noubiap, et al.
Research Square|February 13, 2023
Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness ProteomeMallory R Tollefson, Rose A Gogal, A Monique Weaver, et al.
Biophysical Journal|July 23, 2019
Structural Insights into Hearing Loss Genetics from Polarizable Protein RepackingMallory R Tollefson, Jacob M Litman, Guowei Qi, et al.
Blood|January 23, 2015
Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndromeElizabeth C Schramm, Lubka T Roumenina, Tania Rybkine, et al.
Pageof 59