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Showing results (321-330 of 475) with videos related to

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Ophthalmic Genetics|March 15, 2021
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicismMalena Daich Varela, Robert B Hufnagel, Bin Guan, et al.
Pharmacogenetics and Genomics|January 2, 2025
Updating probability of pathogenicity for RYR1 and CACNA1S exon variants in individuals without malignant hyperthermia after exposure to triggering anestheticsDavid A Roberts, Lisa Bastarache, Jing He, et al.
Epilepsia|January 22, 2005
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome casesEilis A Boudreau, Kore Liow, Carol M Frattali, et al.
NPJ Biofilms and Microbiomes|February 9, 2016
Biofilm-associated bacterial amyloids dampen inflammation in the gut: oral treatment with curli fibres reduces the severity of hapten-induced colitis in miceGertrude O Oppong, Glenn J Rapsinski, Sarah A Tursi, et al.
Genomics|August 1, 1992
Identification of new markers in Xp21 between DXS28 (C7) and DMDK C Worley, J A Towbin, X M Zhu, et al.
Plos Genetics|September 27, 2005
Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiencyStacie K Loftus, Jennifer L Cannons, Arturo Incao, et al.
Clinical Genetics|May 13, 2014
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data setsJ L Cross, J Iben, C L Simpson, et al.
American Journal of Medical Genetics. Part A|November 11, 2003
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndromeJennifer J Johnston, Isabelle Olivos-Glander, Joyce Turner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2025
Implementing secondary findings analysis in a genetic and environmental research studyJennifer J Johnston, Julie C Sapp, Seeley Yoo, et al.
Human Mutation|May 8, 2013
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndromeJennifer J Johnston, Kuo-Kuang Wen, Kim Keppler-Noreuil, et al.
Pageof 48

Showing results (321-330 of 475) with videos related to

Sort By:
Pageof 48
Ophthalmic Genetics|March 15, 2021
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicismMalena Daich Varela, Robert B Hufnagel, Bin Guan, et al.
Pharmacogenetics and Genomics|January 2, 2025
Updating probability of pathogenicity for RYR1 and CACNA1S exon variants in individuals without malignant hyperthermia after exposure to triggering anestheticsDavid A Roberts, Lisa Bastarache, Jing He, et al.
Epilepsia|January 22, 2005
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome casesEilis A Boudreau, Kore Liow, Carol M Frattali, et al.
NPJ Biofilms and Microbiomes|February 9, 2016
Biofilm-associated bacterial amyloids dampen inflammation in the gut: oral treatment with curli fibres reduces the severity of hapten-induced colitis in miceGertrude O Oppong, Glenn J Rapsinski, Sarah A Tursi, et al.
Genomics|August 1, 1992
Identification of new markers in Xp21 between DXS28 (C7) and DMDK C Worley, J A Towbin, X M Zhu, et al.
Plos Genetics|September 27, 2005
Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiencyStacie K Loftus, Jennifer L Cannons, Arturo Incao, et al.
Clinical Genetics|May 13, 2014
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data setsJ L Cross, J Iben, C L Simpson, et al.
American Journal of Medical Genetics. Part A|November 11, 2003
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndromeJennifer J Johnston, Isabelle Olivos-Glander, Joyce Turner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2025
Implementing secondary findings analysis in a genetic and environmental research studyJennifer J Johnston, Julie C Sapp, Seeley Yoo, et al.
Human Mutation|May 8, 2013
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndromeJennifer J Johnston, Kuo-Kuang Wen, Kim Keppler-Noreuil, et al.
Pageof 48