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Koen Devriendt

Showing results (91-100 of 183) with videos related to

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Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|September 23, 2003
Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian familyFrancois X Lemaire, Louw Feenstra, Patrick L M Huygen, et al.
Human Mutation|November 6, 2007
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutationEllen Denayer, Annabel Parret, Magdalena Chmara, et al.
Journal of Medical Genetics|November 12, 2010
2q31.1 microdeletion syndrome: redefining the associated clinical phenotypeBoyan Dimitrov, Irina Balikova, Thomy de Ravel, et al.
Genome Research|May 9, 2002
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouseWeimin Bi, Jiong Yan, Pawe Stankiewicz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2020
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNAHuiwen Che, Darine Villela, Eftychia Dimitriadou, et al.
Neurobiology of Disease|November 17, 2012
Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in miceKim Nuytens, Ilse Gantois, Pieter Stijnen, et al.
EMBO Molecular Medicine|February 20, 2015
A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and functionZeynep Okray, Celine E F de Esch, Hilde Van Esch, et al.
Plos One|June 9, 2012
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionBenedetta Izzi, Inge Francois, Veerle Labarque, et al.
European Journal of Human Genetics : EJHG|May 7, 2015
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palateJeroen Breckpot, Britt-Marie Anderlid, Yasemin Alanay, et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|March 8, 2005
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosisJoris R Vermeesch, Cindy Melotte, Guy Froyen, et al.
Pageof 19

Showing results (91-100 of 183) with videos related to

Sort By:
Pageof 19
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|September 23, 2003
Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian familyFrancois X Lemaire, Louw Feenstra, Patrick L M Huygen, et al.
Human Mutation|November 6, 2007
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutationEllen Denayer, Annabel Parret, Magdalena Chmara, et al.
Journal of Medical Genetics|November 12, 2010
2q31.1 microdeletion syndrome: redefining the associated clinical phenotypeBoyan Dimitrov, Irina Balikova, Thomy de Ravel, et al.
Genome Research|May 9, 2002
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouseWeimin Bi, Jiong Yan, Pawe Stankiewicz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2020
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNAHuiwen Che, Darine Villela, Eftychia Dimitriadou, et al.
Neurobiology of Disease|November 17, 2012
Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in miceKim Nuytens, Ilse Gantois, Pieter Stijnen, et al.
EMBO Molecular Medicine|February 20, 2015
A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and functionZeynep Okray, Celine E F de Esch, Hilde Van Esch, et al.
Plos One|June 9, 2012
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionBenedetta Izzi, Inge Francois, Veerle Labarque, et al.
European Journal of Human Genetics : EJHG|May 7, 2015
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palateJeroen Breckpot, Britt-Marie Anderlid, Yasemin Alanay, et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|March 8, 2005
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosisJoris R Vermeesch, Cindy Melotte, Guy Froyen, et al.
Pageof 19