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American Journal of Human Genetics
|
July 7, 2009
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39
Julie M Schultz, Shaheen N Khan, Zubair M Ahmed, et al.
American Journal of Human Genetics
|
January 7, 2014
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86
Atteeq U Rehman, Regie Lyn P Santos-Cortez, Robert J Morell, et al.
Nature Genetics
|
October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
Zubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.
Scientific Reports
|
May 5, 2026
Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan
Memoona Ramzan, Hafiza Idrees, Hina Khan, et al.
American Journal of Human Genetics
|
January 26, 2016
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2
Regie Lyn P Santos-Cortez, Rabia Faridi, Atteeq U Rehman, et al.
Human Mutation
|
October 11, 2018
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
Elodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, et al.
American Journal of Human Genetics
|
June 21, 2002
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
L M Astuto, J M Bork, M D Weston, et al.
Clinical Genetics
|
February 22, 2023
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy
Rabia Faridi, Rizwan Yousaf, Shoujun Gu, et al.
American Journal of Human Genetics
|
November 25, 2000
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
J M Bork, L M Peters, S Riazuddin, et al.
Allergologia Et Immunopathologia
|
August 6, 2015
Quality of life in caregivers of children with asthma: Validity and reliability of the IFABI-R questionnaire
A Cano-Garcinuño, D Forns-Serrallonga, I Mora-Gandarillas, et al.
Page
of 12
Search research articles
Search
Showing results (101-110 of 118) with videos related to
Sort By:
Page
of 12
American Journal of Human Genetics
|
July 7, 2009
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39
Julie M Schultz, Shaheen N Khan, Zubair M Ahmed, et al.
American Journal of Human Genetics
|
January 7, 2014
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86
Atteeq U Rehman, Regie Lyn P Santos-Cortez, Robert J Morell, et al.
Nature Genetics
|
October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
Zubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.
Scientific Reports
|
May 5, 2026
Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan
Memoona Ramzan, Hafiza Idrees, Hina Khan, et al.
American Journal of Human Genetics
|
January 26, 2016
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2
Regie Lyn P Santos-Cortez, Rabia Faridi, Atteeq U Rehman, et al.
Human Mutation
|
October 11, 2018
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
Elodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, et al.
American Journal of Human Genetics
|
June 21, 2002
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
L M Astuto, J M Bork, M D Weston, et al.
Clinical Genetics
|
February 22, 2023
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy
Rabia Faridi, Rizwan Yousaf, Shoujun Gu, et al.
American Journal of Human Genetics
|
November 25, 2000
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
J M Bork, L M Peters, S Riazuddin, et al.
Allergologia Et Immunopathologia
|
August 6, 2015
Quality of life in caregivers of children with asthma: Validity and reliability of the IFABI-R questionnaire
A Cano-Garcinuño, D Forns-Serrallonga, I Mora-Gandarillas, et al.
Page
of 12