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Catherine Vincent

Showing results (141-150 of 188) with videos related to

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The New England Journal of Medicine|August 18, 2016
A Placebo-Controlled Trial of Obeticholic Acid in Primary Biliary CholangitisFrederik Nevens, Pietro Andreone, Giuseppe Mazzella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2019
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsyMaria J Nabais Sá, Hanka Venselaar, Laurens Wiel, et al.
Clinical Genetics|December 6, 2021
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosumRoseline Vibert, Cyril Mignot, Boris Keren, et al.
European Journal of Medical Genetics|January 18, 2015
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patientsClémence Vanlerberghe, Florence Petit, Valérie Malan, et al.
Prenatal Diagnosis|March 11, 2015
Severe X-linked chondrodysplasia punctata in nine new female fetusesMathilde Lefebvre, Fabienne Dufernez, Ange-Line Bruel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2018
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrumVictoria E R Parker, Kim M Keppler-Noreuil, Laurence Faivre, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11Alice Goldenberg, Florence Riccardi, Aude Tessier, et al.
The Journal of Pediatrics|March 29, 2013
Clinical and molecular spectrum of renal malformations in Kabuki syndromeJean-Benoît Courcet, Laurence Faivre, Caroline Michot, et al.
The Journal of Biological Chemistry|October 11, 2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.
Clinical Genetics|December 5, 2020
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutationsAurore Garde, Jenny Cornaton, Arthur Sorlin, et al.
Pageof 19

Showing results (141-150 of 188) with videos related to

Sort By:
Pageof 19
The New England Journal of Medicine|August 18, 2016
A Placebo-Controlled Trial of Obeticholic Acid in Primary Biliary CholangitisFrederik Nevens, Pietro Andreone, Giuseppe Mazzella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 29, 2019
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsyMaria J Nabais Sá, Hanka Venselaar, Laurens Wiel, et al.
Clinical Genetics|December 6, 2021
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosumRoseline Vibert, Cyril Mignot, Boris Keren, et al.
European Journal of Medical Genetics|January 18, 2015
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patientsClémence Vanlerberghe, Florence Petit, Valérie Malan, et al.
Prenatal Diagnosis|March 11, 2015
Severe X-linked chondrodysplasia punctata in nine new female fetusesMathilde Lefebvre, Fabienne Dufernez, Ange-Line Bruel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2018
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrumVictoria E R Parker, Kim M Keppler-Noreuil, Laurence Faivre, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11Alice Goldenberg, Florence Riccardi, Aude Tessier, et al.
The Journal of Pediatrics|March 29, 2013
Clinical and molecular spectrum of renal malformations in Kabuki syndromeJean-Benoît Courcet, Laurence Faivre, Caroline Michot, et al.
The Journal of Biological Chemistry|October 11, 2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.
Clinical Genetics|December 5, 2020
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutationsAurore Garde, Jenny Cornaton, Arthur Sorlin, et al.
Pageof 19