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Maria Bitner-Glindzicz

Showing results (61-70 of 77) with videos related to

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American Journal of Medical Genetics. Part A|May 4, 2011
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairmentNanna D Rendtorff, Marianne Lodahl, Houda Boulahbel, et al.
American Journal of Human Genetics|December 22, 2009
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2Xuezhong Liu, Dongyi Han, Jianzhong Li, et al.
Nature Genetics|January 25, 2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeCaroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, et al.
Ophthalmology|January 18, 2019
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye DisordersAara Patel, Jane D Hayward, Vijay Tailor, et al.
American Journal of Ophthalmology|April 26, 2022
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease ProgressionAnna Majander, Neringa Jurkute, Florence Burté, et al.
Scientific Reports|August 15, 2020
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutationsDale Bryant, Marian Seda, Emma Peskett, et al.
Human Genetics|January 7, 2018
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Human Molecular Genetics|January 11, 2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAsif Ali, Paul T Christie, Irina V Grigorieva, et al.
Human Genetics|February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeAnna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
Pageof 8

Showing results (61-70 of 77) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|May 4, 2011
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairmentNanna D Rendtorff, Marianne Lodahl, Houda Boulahbel, et al.
American Journal of Human Genetics|December 22, 2009
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2Xuezhong Liu, Dongyi Han, Jianzhong Li, et al.
Nature Genetics|January 25, 2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndromeCaroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, et al.
Ophthalmology|January 18, 2019
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye DisordersAara Patel, Jane D Hayward, Vijay Tailor, et al.
American Journal of Ophthalmology|April 26, 2022
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease ProgressionAnna Majander, Neringa Jurkute, Florence Burté, et al.
Scientific Reports|August 15, 2020
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutationsDale Bryant, Marian Seda, Emma Peskett, et al.
Human Genetics|January 7, 2018
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Human Molecular Genetics|January 11, 2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAsif Ali, Paul T Christie, Irina V Grigorieva, et al.
Human Genetics|February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeAnna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
Pageof 8