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Michaela A H Hofrichter

Showing results (1-10 of 17) with videos related to

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Molecular and Cellular Probes|April 8, 2015
Non-syndromic hearing loss gene identification: A brief history and glimpse into the futureBarbara Vona, Indrajit Nanda, Michaela A H Hofrichter, et al.
Hearing Research|February 18, 2020
Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing lossBarbara Vona, Julia Doll, Michaela A H Hofrichter, et al.
BMC Research Notes|June 16, 2018
Hereditary hearing loss SNP-microarray pilot studyBarbara Vona, Michaela A H Hofrichter, Jörg Schröder, et al.
Molecular Syndromology|December 10, 2015
A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing ImpairmentMichaela A H Hofrichter, Indrajit Nanda, Jens Gräf, et al.
Molecular Genetics & Genomic Medicine|June 11, 2020
A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German familyJulia Doll, Michaela A H Hofrichter, Paulina Bahena, et al.
Ear and Hearing|February 6, 2016
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss GeneBarbara Vona, Stanislav Lechno, Michaela A H Hofrichter, et al.
European Journal of Medical Genetics|July 18, 2019
Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing lossMichaela A H Hofrichter, Julia Doll, Haleh Habibi, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|December 12, 2018
Phenotypic Characterization of DFNB16-associated Hearing LossDaniela Back, Wafaa Shehata-Dieler, Barbara Vona, et al.
BMC Medical Genomics|April 1, 2025
Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencingDaniel Bengl, Asuman Koparir, Wahyu Eka Prastyo, et al.
BMC Medical Genetics|May 20, 2018
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian familyMichaela A H Hofrichter, Majid Mojarad, Julia Doll, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
Molecular and Cellular Probes|April 8, 2015
Non-syndromic hearing loss gene identification: A brief history and glimpse into the futureBarbara Vona, Indrajit Nanda, Michaela A H Hofrichter, et al.
Hearing Research|February 18, 2020
Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing lossBarbara Vona, Julia Doll, Michaela A H Hofrichter, et al.
BMC Research Notes|June 16, 2018
Hereditary hearing loss SNP-microarray pilot studyBarbara Vona, Michaela A H Hofrichter, Jörg Schröder, et al.
Molecular Syndromology|December 10, 2015
A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing ImpairmentMichaela A H Hofrichter, Indrajit Nanda, Jens Gräf, et al.
Molecular Genetics & Genomic Medicine|June 11, 2020
A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German familyJulia Doll, Michaela A H Hofrichter, Paulina Bahena, et al.
Ear and Hearing|February 6, 2016
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss GeneBarbara Vona, Stanislav Lechno, Michaela A H Hofrichter, et al.
European Journal of Medical Genetics|July 18, 2019
Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing lossMichaela A H Hofrichter, Julia Doll, Haleh Habibi, et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|December 12, 2018
Phenotypic Characterization of DFNB16-associated Hearing LossDaniela Back, Wafaa Shehata-Dieler, Barbara Vona, et al.
BMC Medical Genomics|April 1, 2025
Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencingDaniel Bengl, Asuman Koparir, Wahyu Eka Prastyo, et al.
BMC Medical Genetics|May 20, 2018
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian familyMichaela A H Hofrichter, Majid Mojarad, Julia Doll, et al.
Pageof 2