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Judith Melki

Showing results (51-60 of 79) with videos related to

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BMC Biochemistry|September 17, 2008
YB-1 promotes microtubule assembly in vitro through interaction with tubulin and microtubulesKonstantin G Chernov, Alain Mechulam, Nadezhda V Popova, et al.
Haematologica|August 18, 2018
A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formationAlexandre Kauskot, Tiffany Pascreau, Frédéric Adam, et al.
Human Molecular Genetics|December 14, 2012
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposisKlaus Dieterich, Susana Quijano-Roy, Nicole Monnier, et al.
Blood|October 26, 2013
Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjogren's syndromeGaetane Nocturne, Saida Boudaoud, Corinne Miceli-Richard, et al.
American Journal of Human Genetics|May 26, 2015
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenitaGianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencingMartin Krahn, Valérie Biancalana, Mathieu Cerino, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assaysMarine Legendre, Montserrat Rodriguez-Ballesteros, Massimiliano Rossi, et al.
American Journal of Medical Genetics. Part A|September 13, 2016
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disabilityAlexandra Gauthier-Vasserot, Christel Thauvin-Robinet, Ange-Line Bruel, et al.
American Journal of Human Genetics|March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex CongenitaShifeng Xue, Jérôme Maluenda, Florent Marguet, et al.
Neurobiology of Aging|April 23, 2010
Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosisElke Bogaert, An Goris, Philip Van Damme, et al.
Pageof 8

Showing results (51-60 of 79) with videos related to

Sort By:
Pageof 8
BMC Biochemistry|September 17, 2008
YB-1 promotes microtubule assembly in vitro through interaction with tubulin and microtubulesKonstantin G Chernov, Alain Mechulam, Nadezhda V Popova, et al.
Haematologica|August 18, 2018
A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formationAlexandre Kauskot, Tiffany Pascreau, Frédéric Adam, et al.
Human Molecular Genetics|December 14, 2012
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposisKlaus Dieterich, Susana Quijano-Roy, Nicole Monnier, et al.
Blood|October 26, 2013
Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjogren's syndromeGaetane Nocturne, Saida Boudaoud, Corinne Miceli-Richard, et al.
American Journal of Human Genetics|May 26, 2015
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenitaGianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencingMartin Krahn, Valérie Biancalana, Mathieu Cerino, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assaysMarine Legendre, Montserrat Rodriguez-Ballesteros, Massimiliano Rossi, et al.
American Journal of Medical Genetics. Part A|September 13, 2016
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disabilityAlexandra Gauthier-Vasserot, Christel Thauvin-Robinet, Ange-Line Bruel, et al.
American Journal of Human Genetics|March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex CongenitaShifeng Xue, Jérôme Maluenda, Florent Marguet, et al.
Neurobiology of Aging|April 23, 2010
Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosisElke Bogaert, An Goris, Philip Van Damme, et al.
Pageof 8