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Catheline Vilain

Showing results (11-20 of 58) with videos related to

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European Journal of Medical Genetics|February 12, 2023
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicismVictoria van Renterghem, Catheline Vilain, Koenraad Devriendt, et al.
Annals of Clinical and Translational Neurology|May 28, 2022
Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsyRoberto Santalucia, Catheline Vilain, Julie Soblet, et al.
European Journal of Medical Genetics|November 13, 2020
Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotypePauline Dontaine, Elisa Kottos, Martine Dassonville, et al.
Frontiers in Endocrinology|December 6, 2021
The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?Fiorenza Ulgiati, Sophie Lhoir, Irina Balikova, et al.
The Journal of Clinical Endocrinology and Metabolism|April 27, 2012
Iodotyrosine deiodinase defect identified via genome-wide approachAgnès Burniat, Isabelle Pirson, Catheline Vilain, et al.
American Journal of Medical Genetics. Part A|January 12, 2022
Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1Sandra Coppens, Laurence Desmyter, Manuel Koch, et al.
Pediatric Reports|August 27, 2021
Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature InfantGiovanna D'Amico, Corinne De Laet, Guillaume Smits, et al.
American Journal of Medical Genetics. Part A|June 9, 2009
Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and reviewCatheline Vilain, Geert Mortier, Guy Van Vliet, et al.
Neuropediatrics|June 20, 2025
Solute Carrier 45A1: A New Cerebral Glucose Transporter Brain Disorder with Focal Refractory Epilepsy Responsive to Ketogenic Diet and AcetazolamideBenoit Semal, Sebastian Neuens, Catheline Vilain, et al.
The Journal of Clinical Endocrinology and Metabolism|February 28, 2019
Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and MenCécile Brachet, Elena A Kozhemyakina, Emese Boros, et al.
Pageof 6

Showing results (11-20 of 58) with videos related to

Sort By:
Pageof 6
European Journal of Medical Genetics|February 12, 2023
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicismVictoria van Renterghem, Catheline Vilain, Koenraad Devriendt, et al.
Annals of Clinical and Translational Neurology|May 28, 2022
Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsyRoberto Santalucia, Catheline Vilain, Julie Soblet, et al.
European Journal of Medical Genetics|November 13, 2020
Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotypePauline Dontaine, Elisa Kottos, Martine Dassonville, et al.
Frontiers in Endocrinology|December 6, 2021
The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?Fiorenza Ulgiati, Sophie Lhoir, Irina Balikova, et al.
The Journal of Clinical Endocrinology and Metabolism|April 27, 2012
Iodotyrosine deiodinase defect identified via genome-wide approachAgnès Burniat, Isabelle Pirson, Catheline Vilain, et al.
American Journal of Medical Genetics. Part A|January 12, 2022
Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1Sandra Coppens, Laurence Desmyter, Manuel Koch, et al.
Pediatric Reports|August 27, 2021
Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature InfantGiovanna D'Amico, Corinne De Laet, Guillaume Smits, et al.
American Journal of Medical Genetics. Part A|June 9, 2009
Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and reviewCatheline Vilain, Geert Mortier, Guy Van Vliet, et al.
Neuropediatrics|June 20, 2025
Solute Carrier 45A1: A New Cerebral Glucose Transporter Brain Disorder with Focal Refractory Epilepsy Responsive to Ketogenic Diet and AcetazolamideBenoit Semal, Sebastian Neuens, Catheline Vilain, et al.
The Journal of Clinical Endocrinology and Metabolism|February 28, 2019
Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and MenCécile Brachet, Elena A Kozhemyakina, Emese Boros, et al.
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