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Thomy de Ravel

Showing results (21-30 of 72) with videos related to

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European Journal of Medical Genetics|March 1, 2014
Presenting symptoms in adults with the 22q11 deletion syndromeAnnick Vogels, Sara Schevenels, Richard Cayenberghs, et al.
Neurogenetics|October 7, 2009
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variantNadia Bahi-Buisson, Juliette Nectoux, Benoit Girard, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletionLuis M Franco, Thomy de Ravel, Brett H Graham, et al.
The Journal of Pediatrics|February 9, 2010
Array comparative genomic hybridization as a diagnostic tool for syndromic heart defectsJeroen Breckpot, Bernard Thienpont, Hilde Peeters, et al.
European Journal of Human Genetics : EJHG|June 21, 2007
Partial duplications of the ATRX gene cause the ATR-X syndromeBernard Thienpont, Thomy de Ravel, Hilde Van Esch, et al.
Human Reproduction (Oxford, England)|February 4, 2017
Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryosEftychia Dimitriadou, Cindy Melotte, Sophie Debrock, 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.
Blood|January 20, 2005
A common Fanconi anemia mutation in black populations of sub-Saharan AfricaNeil V Morgan, Fahmida Essop, Ilja Demuth, et al.
American Journal of Human Genetics|February 23, 2010
Deletion and point mutations of PTHLH cause brachydactyly type EEva Klopocki, Bianca P Hennig, Katarina Dathe, et al.
Nature Genetics|July 30, 2009
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychiaIngo Kurth, Eva Klopocki, Sigmar Stricker, et al.
Pageof 8

Showing results (21-30 of 72) with videos related to

Sort By:
Pageof 8
European Journal of Medical Genetics|March 1, 2014
Presenting symptoms in adults with the 22q11 deletion syndromeAnnick Vogels, Sara Schevenels, Richard Cayenberghs, et al.
Neurogenetics|October 7, 2009
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variantNadia Bahi-Buisson, Juliette Nectoux, Benoit Girard, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletionLuis M Franco, Thomy de Ravel, Brett H Graham, et al.
The Journal of Pediatrics|February 9, 2010
Array comparative genomic hybridization as a diagnostic tool for syndromic heart defectsJeroen Breckpot, Bernard Thienpont, Hilde Peeters, et al.
European Journal of Human Genetics : EJHG|June 21, 2007
Partial duplications of the ATRX gene cause the ATR-X syndromeBernard Thienpont, Thomy de Ravel, Hilde Van Esch, et al.
Human Reproduction (Oxford, England)|February 4, 2017
Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryosEftychia Dimitriadou, Cindy Melotte, Sophie Debrock, 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.
Blood|January 20, 2005
A common Fanconi anemia mutation in black populations of sub-Saharan AfricaNeil V Morgan, Fahmida Essop, Ilja Demuth, et al.
American Journal of Human Genetics|February 23, 2010
Deletion and point mutations of PTHLH cause brachydactyly type EEva Klopocki, Bianca P Hennig, Katarina Dathe, et al.
Nature Genetics|July 30, 2009
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychiaIngo Kurth, Eva Klopocki, Sigmar Stricker, et al.
Pageof 8