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Odile Boute

Showing results (1-10 of 75) with videos related to

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European Journal of Medical Genetics|April 27, 2024
PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literatureFiona Leduc, Thomas Smol, Benoit Catteau, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbsAnne Dieux-Coëslier, Alexandre Moerman, Muriel Holder, et al.
Annales De Pathologie|August 19, 2008
[Sirenomelia as a part of VACTERL association: a study of three cases]Philippe Charlier, Anne-Sylvie Valat, Odile Boute, et al.
Prenatal Diagnosis|August 13, 2025
Maternal Mosaicism Challenges in Non-Invasive Prenatal DiagnosisMargot Comel, Marina Lamairia, Odile Boute, et al.
European Journal of Medical Genetics|July 5, 2011
7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B)Kristin Hofmann, Jutta Becker, Raoul Heller, et al.
Journal of Genetic Counseling|November 1, 2016
The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative StudyLaura Geerts, Carole Fantini-Hauwel, Elodie Brugallé, et al.
American Journal of Medical Genetics. Part A|January 22, 2004
Pre- and postnatal diagnosis of limb anomalies: a series of 107 casesMuriel Holder-Espinasse, Louise Devisme, Dominique Thomas, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Whole ARX gene duplication is compatible with normal intellectual developmentCornel Popovici, Tiffany Busa, Odile Boute, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disabilitySarra Dimassi, Joris Andrieux, Audrey Labalme, et al.
Journal of Medical Genetics|March 4, 2018
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromesMirta Basha, Bénédicte Demeer, Nicole Revencu, et al.
Pageof 8

Showing results (1-10 of 75) with videos related to

Sort By:
Pageof 8
European Journal of Medical Genetics|April 27, 2024
PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literatureFiona Leduc, Thomas Smol, Benoit Catteau, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbsAnne Dieux-Coëslier, Alexandre Moerman, Muriel Holder, et al.
Annales De Pathologie|August 19, 2008
[Sirenomelia as a part of VACTERL association: a study of three cases]Philippe Charlier, Anne-Sylvie Valat, Odile Boute, et al.
Prenatal Diagnosis|August 13, 2025
Maternal Mosaicism Challenges in Non-Invasive Prenatal DiagnosisMargot Comel, Marina Lamairia, Odile Boute, et al.
European Journal of Medical Genetics|July 5, 2011
7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B)Kristin Hofmann, Jutta Becker, Raoul Heller, et al.
Journal of Genetic Counseling|November 1, 2016
The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative StudyLaura Geerts, Carole Fantini-Hauwel, Elodie Brugallé, et al.
American Journal of Medical Genetics. Part A|January 22, 2004
Pre- and postnatal diagnosis of limb anomalies: a series of 107 casesMuriel Holder-Espinasse, Louise Devisme, Dominique Thomas, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Whole ARX gene duplication is compatible with normal intellectual developmentCornel Popovici, Tiffany Busa, Odile Boute, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disabilitySarra Dimassi, Joris Andrieux, Audrey Labalme, et al.
Journal of Medical Genetics|March 4, 2018
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromesMirta Basha, Bénédicte Demeer, Nicole Revencu, et al.
Pageof 8