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Matthew J Ferber

Showing results (11-20 of 41) with videos related to

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American Journal of Medical Genetics. Part A|June 4, 2014
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicismRadhika Dhamija, Salman Kirmani, Xiangling Wang, et al.
Cold Spring Harbor Molecular Case Studies|October 1, 2017
Novel <i>NR2F1</i> variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndromeCharu Kaiwar, Michael T Zimmermann, Matthew J Ferber, et al.
American Journal of Medical Genetics. Part A|October 23, 2018
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)Nicole J Boczek, Carrie A Lahner, Thuy-Mi Nguyen, et al.
Gastroenterology|September 7, 2005
Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patientsLinnea M Baudhuin, Matthew J Ferber, Jennifer L Winters, et al.
Genes, Chromosomes & Cancer|July 12, 2002
Transcriptional profiling reveals that several common fragile-site genes are downregulated in ovarian cancerStacy R Denison, Nicole A Becker, Matthew J Ferber, et al.
Journal of Genetics|December 28, 2013
Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo ClinicHoney V Reddi, Brittany C Thomas, Kurt S Willkomm, et al.
Molecular Genetics & Genomic Medicine|January 30, 2026
Mosaic Li Fraumeni Syndrome Not Identified in Germinal TissueRhianna M Urban, Nisha Kanwar, Megan A Holdren, et al.
Journal of Clinical Microbiology|September 26, 2023
Use of next-generation sequencing to detect mutations associated with antiviral drug resistance in cytomegalovirusNicholas T Streck, Mark J Espy, Matthew J Ferber, et al.
Cancer Genetics and Cytogenetics|September 24, 2004
Positioning of cervical carcinoma and Burkitt lymphoma translocation breakpoints with respect to the human papillomavirus integration cluster in FRA8C at 8q24.13Matthew J Ferber, Paul Eilers, Ed Schuuring, et al.
Cold Spring Harbor Molecular Case Studies|May 11, 2017
Novel de novo variant in <i>EBF3</i> is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published casesPatrick R Blackburn, Sarah S Barnett, Michael T Zimmermann, et al.
Pageof 5

Showing results (11-20 of 41) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|June 4, 2014
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicismRadhika Dhamija, Salman Kirmani, Xiangling Wang, et al.
Cold Spring Harbor Molecular Case Studies|October 1, 2017
Novel <i>NR2F1</i> variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndromeCharu Kaiwar, Michael T Zimmermann, Matthew J Ferber, et al.
American Journal of Medical Genetics. Part A|October 23, 2018
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)Nicole J Boczek, Carrie A Lahner, Thuy-Mi Nguyen, et al.
Gastroenterology|September 7, 2005
Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patientsLinnea M Baudhuin, Matthew J Ferber, Jennifer L Winters, et al.
Genes, Chromosomes & Cancer|July 12, 2002
Transcriptional profiling reveals that several common fragile-site genes are downregulated in ovarian cancerStacy R Denison, Nicole A Becker, Matthew J Ferber, et al.
Journal of Genetics|December 28, 2013
Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo ClinicHoney V Reddi, Brittany C Thomas, Kurt S Willkomm, et al.
Molecular Genetics & Genomic Medicine|January 30, 2026
Mosaic Li Fraumeni Syndrome Not Identified in Germinal TissueRhianna M Urban, Nisha Kanwar, Megan A Holdren, et al.
Journal of Clinical Microbiology|September 26, 2023
Use of next-generation sequencing to detect mutations associated with antiviral drug resistance in cytomegalovirusNicholas T Streck, Mark J Espy, Matthew J Ferber, et al.
Cancer Genetics and Cytogenetics|September 24, 2004
Positioning of cervical carcinoma and Burkitt lymphoma translocation breakpoints with respect to the human papillomavirus integration cluster in FRA8C at 8q24.13Matthew J Ferber, Paul Eilers, Ed Schuuring, et al.
Cold Spring Harbor Molecular Case Studies|May 11, 2017
Novel de novo variant in <i>EBF3</i> is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published casesPatrick R Blackburn, Sarah S Barnett, Michael T Zimmermann, et al.
Pageof 5