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G Biesecker

Showing results (301-310 of 475) with videos related to

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Human Molecular Genetics|April 18, 1998
Genetic and physical mapping of the McKusick-Kaufman syndromeD L Stone, R Agarwala, A A Schäffer, et al.
Journal of Medical Genetics|June 1, 1997
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndromeS Kang, J Allen, J M Graham, et al.
BMC Bioinformatics|April 9, 2021
Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approachJeffrey N Dudley, Celine S Hong, Marwan A Hawari, et al.
American Journal of Human Genetics|May 1, 1993
Molecular analysis of the 18q- syndrome--and correlation with phenotypeA D Kline, M E White, R Wapner, et al.
American Journal of Human Genetics|August 23, 2000
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1J J Johnston, R I Kelley, T O Crawford, et al.
American Journal of Medical Genetics. Part A|October 23, 2018
Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndromeVarun Takyar, Divya Khattar, Alexander Ling, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|June 1, 2026
Development and validation of an LC-MS/MS assay for the quantification of Miransertib in human plasma and clinical applicationR M Naseer Khan, Oluwatobi T Arisa, Yi Zeng, et al.
Human Genome Variation|April 16, 2016
Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomaliesIngrid M Wentzensen, Jennifer J Johnston, Kim Keppler-Noreuil, et al.
American Journal of Medical Genetics. Part A|November 22, 2013
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicismJennifer J Johnston, Julie C Sapp, Cynthia Curry, et al.
Journal of Medical Genetics|November 1, 1996
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndromeL G Biesecker, S Kang, A A Schäffer, et al.
Pageof 48

Showing results (301-310 of 475) with videos related to

Sort By:
Pageof 48
Human Molecular Genetics|April 18, 1998
Genetic and physical mapping of the McKusick-Kaufman syndromeD L Stone, R Agarwala, A A Schäffer, et al.
Journal of Medical Genetics|June 1, 1997
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndromeS Kang, J Allen, J M Graham, et al.
BMC Bioinformatics|April 9, 2021
Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approachJeffrey N Dudley, Celine S Hong, Marwan A Hawari, et al.
American Journal of Human Genetics|May 1, 1993
Molecular analysis of the 18q- syndrome--and correlation with phenotypeA D Kline, M E White, R Wapner, et al.
American Journal of Human Genetics|August 23, 2000
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1J J Johnston, R I Kelley, T O Crawford, et al.
American Journal of Medical Genetics. Part A|October 23, 2018
Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndromeVarun Takyar, Divya Khattar, Alexander Ling, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|June 1, 2026
Development and validation of an LC-MS/MS assay for the quantification of Miransertib in human plasma and clinical applicationR M Naseer Khan, Oluwatobi T Arisa, Yi Zeng, et al.
Human Genome Variation|April 16, 2016
Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomaliesIngrid M Wentzensen, Jennifer J Johnston, Kim Keppler-Noreuil, et al.
American Journal of Medical Genetics. Part A|November 22, 2013
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicismJennifer J Johnston, Julie C Sapp, Cynthia Curry, et al.
Journal of Medical Genetics|November 1, 1996
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndromeL G Biesecker, S Kang, A A Schäffer, et al.
Pageof 48