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Thomy de Ravel

Showing results (1-10 of 72) with videos related to

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Journal of Intellectual Disability Research : JIDR|September 15, 2012
Social phenotypes in genetic syndromesAnn Swillen, Thomy de Ravel, Chris Oliver
The Lancet. Oncology|May 5, 2009
Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1Hilde Brems, Eline Beert, Thomy de Ravel, et al.
Prenatal Diagnosis|March 28, 2006
Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 geneMarijke Aerts, Caroline Van Holsbeke, Thomy de Ravel, et al.
Journal of Pediatric Ophthalmology and Strabismus|January 20, 2011
Diffuse choroidal atrophy in a boy with Klinefelter syndromeSofie Verstraeten, Nele Jaenen, Werner Spileers, et al.
European Journal of Medical Genetics|September 24, 2005
Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13Thomy de Ravel, Peter Aerssens, Joris R Vermeesch, et al.
Ophthalmic Genetics|October 9, 2012
Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutationsCatherine Cassiman, Werner Spileers, Elfride De Baere, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletionThomy de Ravel, Irina Balikova, Jozef Van Driessche, et al.
European Journal of Medical Genetics|July 23, 2019
BCAP31-related syndrome: The first de novo reportBerardo Rinaldi, Evelien Van Hoof, Anniek Corveleyn, et al.
Fetal Diagnosis and Therapy|October 15, 2011
Postmortem fetal imaging of a metabolic pluricystic kidney diseaseFilip Claus, An Hindryckx, Thomy de Ravel, et al.
Pediatric Neurology|December 15, 2023
Macrocephaly? Do not Forget SUFUEllen Rijckmans, Victoria Bordon, Thomy de Ravel, et al.
Pageof 8

Showing results (1-10 of 72) with videos related to

Sort By:
Pageof 8
Journal of Intellectual Disability Research : JIDR|September 15, 2012
Social phenotypes in genetic syndromesAnn Swillen, Thomy de Ravel, Chris Oliver
The Lancet. Oncology|May 5, 2009
Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1Hilde Brems, Eline Beert, Thomy de Ravel, et al.
Prenatal Diagnosis|March 28, 2006
Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 geneMarijke Aerts, Caroline Van Holsbeke, Thomy de Ravel, et al.
Journal of Pediatric Ophthalmology and Strabismus|January 20, 2011
Diffuse choroidal atrophy in a boy with Klinefelter syndromeSofie Verstraeten, Nele Jaenen, Werner Spileers, et al.
European Journal of Medical Genetics|September 24, 2005
Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13Thomy de Ravel, Peter Aerssens, Joris R Vermeesch, et al.
Ophthalmic Genetics|October 9, 2012
Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutationsCatherine Cassiman, Werner Spileers, Elfride De Baere, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletionThomy de Ravel, Irina Balikova, Jozef Van Driessche, et al.
European Journal of Medical Genetics|July 23, 2019
BCAP31-related syndrome: The first de novo reportBerardo Rinaldi, Evelien Van Hoof, Anniek Corveleyn, et al.
Fetal Diagnosis and Therapy|October 15, 2011
Postmortem fetal imaging of a metabolic pluricystic kidney diseaseFilip Claus, An Hindryckx, Thomy de Ravel, et al.
Pediatric Neurology|December 15, 2023
Macrocephaly? Do not Forget SUFUEllen Rijckmans, Victoria Bordon, Thomy de Ravel, et al.
Pageof 8