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J L Knight

Showing results (101-110 of 108) with videos related to

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Genetics in Medicine Open|June 16, 2025
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humansAkiko Soneda Hashimoto, Jianshi Yu, Christina Williams, et al.
Nature Genetics|November 5, 2022
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical featuresPauline Robbe, Kate E Ridout, Dimitrios V Vavoulis, et al.
Blood|June 13, 2018
Identification of a new <i>VHL</i> exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau diseaseMarion Lenglet, Florence Robriquet, Klaus Schwarz, et al.
Neurology|February 10, 2019
Clinical spectrum of <i>STX1B</i>-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.
Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.
Journal of Medical Genetics|April 18, 2009
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomeB W M van Bon, H C Mefford, B Menten, et al.
The New England Journal of Medicine|September 12, 2008
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford, Andrew J Sharp, Carl Baker, et al.
Genome Medicine|November 10, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesAlistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, et al.
Pageof 11

Showing results (101-110 of 108) with videos related to

Sort By:
Pageof 11
You have reached the last page of results.This site can display upto 108 results.
Genetics in Medicine Open|June 16, 2025
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humansAkiko Soneda Hashimoto, Jianshi Yu, Christina Williams, et al.
Nature Genetics|November 5, 2022
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical featuresPauline Robbe, Kate E Ridout, Dimitrios V Vavoulis, et al.
Blood|June 13, 2018
Identification of a new <i>VHL</i> exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau diseaseMarion Lenglet, Florence Robriquet, Klaus Schwarz, et al.
Neurology|February 10, 2019
Clinical spectrum of <i>STX1B</i>-related epileptic disordersStefan Wolking, Patrick May, Davide Mei, et al.
Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.
Journal of Medical Genetics|April 18, 2009
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomeB W M van Bon, H C Mefford, B Menten, et al.
The New England Journal of Medicine|September 12, 2008
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford, Andrew J Sharp, Carl Baker, et al.
Genome Medicine|November 10, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesAlistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, et al.
Pageof 11