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Elizabeth Wohler

Showing results (11-20 of 44) with videos related to

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Scientific Reports|June 21, 2024
Identification and analyses of exonic and copy number variants in spastic paraplegiaAnum Shafique, Ayesha Nadeem, Faiza Aslam, et al.
Clinical Dysmorphology|September 7, 2023
Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndromeJéssica G A Espolaor, Eduardo Perrone, Marina F B Silva, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 functionApril N Meyer, Peggy Modaff, Clark G Wang, et al.
European Journal of Medical Genetics|August 21, 2020
A novel homozygous KY variant causing a complex neurological disorderBeenish Arif, Arisha Rasheed, Kishore R Kumar, et al.
Genes|February 25, 2023
Exome Sequencing Reveals <i>SLC4A11</i> Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital GlaucomaKhazeema Yousaf, Sadaf Naz, Asma Mushtaq, et al.
Human Mutation|February 16, 2022
The impact of GeneMatcher on international data sharing and collaborationAda Hamosh, Elizabeth Wohler, Renan Martin, et al.
Scientific Reports|January 28, 2026
Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani familiesFaiza Aslam, Muhammad Wajid, Amina Iftikhar Butt, et al.
The Laryngoscope|April 27, 2023
Mapping Genetic Susceptibility to Stenosis in the Proximal AirwayKayvon Sharif, William S Tierney, Ruth J Davis, et al.
American Journal of Medical Genetics. Part A|December 12, 2023
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complexAngie C Jelin, Elizabeth Wohler, Renan Martin, et al.
Journal of Medical Genetics|August 24, 2022
<i>MRM2</i> variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneityAnum Shafique, Beenish Arif, Mary Lynn Chu, et al.
Pageof 5

Showing results (11-20 of 44) with videos related to

Sort By:
Pageof 5
Scientific Reports|June 21, 2024
Identification and analyses of exonic and copy number variants in spastic paraplegiaAnum Shafique, Ayesha Nadeem, Faiza Aslam, et al.
Clinical Dysmorphology|September 7, 2023
Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndromeJéssica G A Espolaor, Eduardo Perrone, Marina F B Silva, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 functionApril N Meyer, Peggy Modaff, Clark G Wang, et al.
European Journal of Medical Genetics|August 21, 2020
A novel homozygous KY variant causing a complex neurological disorderBeenish Arif, Arisha Rasheed, Kishore R Kumar, et al.
Genes|February 25, 2023
Exome Sequencing Reveals <i>SLC4A11</i> Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital GlaucomaKhazeema Yousaf, Sadaf Naz, Asma Mushtaq, et al.
Human Mutation|February 16, 2022
The impact of GeneMatcher on international data sharing and collaborationAda Hamosh, Elizabeth Wohler, Renan Martin, et al.
Scientific Reports|January 28, 2026
Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani familiesFaiza Aslam, Muhammad Wajid, Amina Iftikhar Butt, et al.
The Laryngoscope|April 27, 2023
Mapping Genetic Susceptibility to Stenosis in the Proximal AirwayKayvon Sharif, William S Tierney, Ruth J Davis, et al.
American Journal of Medical Genetics. Part A|December 12, 2023
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complexAngie C Jelin, Elizabeth Wohler, Renan Martin, et al.
Journal of Medical Genetics|August 24, 2022
<i>MRM2</i> variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneityAnum Shafique, Beenish Arif, Mary Lynn Chu, et al.
Pageof 5