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Elizabeth Wohler

Showing results (21-30 of 44) with videos related to

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Frontiers in Genetics|June 21, 2024
Rare exonic <i>CELSR3</i> variants identified in Bladder Exstrophy Epispadias ComplexAngie C Jelin, Nikolai Sopko, Nara Sobreira, et al.
Genome Research|September 6, 2011
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencingNara L M Sobreira, Veena Gnanakkan, Michael Walsh, et al.
European Journal of Medical Genetics|November 8, 2021
Expansion of the phenotypic and mutational spectrum of Carpenter syndromeRabab Khairat, Rasha Elhossini, Nara Sobreira, et al.
Genes|January 21, 2023
A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation FamilyMarah H Wahbeh, Xi Peng, Sofia Bacharaki, et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo|April 12, 2023
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2Michele Patricia Migliavacca, Rodrigo Ambrosio Fock, Nadia Almeida, et al.
Prenatal Diagnosis|January 30, 2020
The utility of exome sequencing for fetal pleural effusionsAngie C Jelin, Nara Sobreira, Elizabeth Wohler, et al.
The Lancet. Neurology|June 17, 2026
Spontaneous spinal CSF leaks: a rare variant exome sequencing study and functional analysisCassie A Parks, Mukti Singh, Elizabeth Wohler, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 3, 2025
<i>CACNA1D</i> is a circadian gene and causes familial advanced sleep phaseJohn M Webb, Fayal Abderemane-Ali, Liza Ashbrook, et al.
Orphanet Journal of Rare Diseases|August 19, 2021
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence dataElizabeth Wohler, Renan Martin, Sean Griffith, et al.
Cancers|July 2, 2021
Germline <i>ERBB2</i>/<i>HER2</i> Coding Variants Are Associated with Increased Risk of Myeloproliferative NeoplasmsEvan M Braunstein, Hang Chen, Felicia Juarez, et al.
Pageof 5

Showing results (21-30 of 44) with videos related to

Sort By:
Pageof 5
Frontiers in Genetics|June 21, 2024
Rare exonic <i>CELSR3</i> variants identified in Bladder Exstrophy Epispadias ComplexAngie C Jelin, Nikolai Sopko, Nara Sobreira, et al.
Genome Research|September 6, 2011
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencingNara L M Sobreira, Veena Gnanakkan, Michael Walsh, et al.
European Journal of Medical Genetics|November 8, 2021
Expansion of the phenotypic and mutational spectrum of Carpenter syndromeRabab Khairat, Rasha Elhossini, Nara Sobreira, et al.
Genes|January 21, 2023
A Missense Variant in CASKIN1's Proline-Rich Region Segregates with Psychosis in a Three-Generation FamilyMarah H Wahbeh, Xi Peng, Sofia Bacharaki, et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo|April 12, 2023
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2Michele Patricia Migliavacca, Rodrigo Ambrosio Fock, Nadia Almeida, et al.
Prenatal Diagnosis|January 30, 2020
The utility of exome sequencing for fetal pleural effusionsAngie C Jelin, Nara Sobreira, Elizabeth Wohler, et al.
The Lancet. Neurology|June 17, 2026
Spontaneous spinal CSF leaks: a rare variant exome sequencing study and functional analysisCassie A Parks, Mukti Singh, Elizabeth Wohler, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 3, 2025
<i>CACNA1D</i> is a circadian gene and causes familial advanced sleep phaseJohn M Webb, Fayal Abderemane-Ali, Liza Ashbrook, et al.
Orphanet Journal of Rare Diseases|August 19, 2021
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence dataElizabeth Wohler, Renan Martin, Sean Griffith, et al.
Cancers|July 2, 2021
Germline <i>ERBB2</i>/<i>HER2</i> Coding Variants Are Associated with Increased Risk of Myeloproliferative NeoplasmsEvan M Braunstein, Hang Chen, Felicia Juarez, et al.
Pageof 5