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Cyril Mignot

Showing results (11-20 of 236) with videos related to

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Pediatric Radiology|May 14, 2009
Microcephaly: a radiological reviewAilbhe Tarrant, Catherine Garel, David Germanaud, et al.
The Journal of Pediatrics|June 20, 2021
Pulmonary Hemorrhage Revealing Multiple Vascular Malformations in a Child with KCNT1 Developmental Epileptic EncephalopathyJulie Cassibba, Lauren Bitton, Cyril Mignot, et al.
European Journal of Medical Genetics|January 23, 2013
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic featuresCéline Poirsier-Violle, Azzedine Abourra, Clarisse Baumann, et al.
Cytometry. Part B, Clinical Cytometry|June 23, 2010
A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosisDaniela Bratosin, Jean-Pierre Tissier, Hélène Lapillonne, et al.
American Journal of Medical Genetics. Part A|April 24, 2012
Deletion of filamin A in two female patients with periventricular nodular heterotopiaJodi Warman Chardon, Cyril Mignot, Swaroop Aradhya, et al.
Brain & Development|May 1, 2012
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosumCyril Mignot, Delphine Héron, Joseph Bursztyn, et al.
European Journal of Medical Genetics|October 4, 2019
The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndromeLise Larcher, Joy W Norris, Elodie Lejeune, et al.
Journal of Medical Case Reports|March 3, 2026
Major clinical improvement in a boy with developmental disabilities and a PTPN4 mutation with intensive re-education and an enriched environment in a day care hospital: a case reportCorentin Tasu, Alice Oppetit, Chantal Galbert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2021
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromesMarie Hully, Tommaso Lo Barco, Anna Kaminska, et al.
Case Reports in Psychiatry|June 20, 2017
Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious BlindnessCora Cravero, Vincent Guinchat, Jean Xavier, et al.
Pageof 24

Showing results (11-20 of 236) with videos related to

Sort By:
Pageof 24
Pediatric Radiology|May 14, 2009
Microcephaly: a radiological reviewAilbhe Tarrant, Catherine Garel, David Germanaud, et al.
The Journal of Pediatrics|June 20, 2021
Pulmonary Hemorrhage Revealing Multiple Vascular Malformations in a Child with KCNT1 Developmental Epileptic EncephalopathyJulie Cassibba, Lauren Bitton, Cyril Mignot, et al.
European Journal of Medical Genetics|January 23, 2013
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic featuresCéline Poirsier-Violle, Azzedine Abourra, Clarisse Baumann, et al.
Cytometry. Part B, Clinical Cytometry|June 23, 2010
A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosisDaniela Bratosin, Jean-Pierre Tissier, Hélène Lapillonne, et al.
American Journal of Medical Genetics. Part A|April 24, 2012
Deletion of filamin A in two female patients with periventricular nodular heterotopiaJodi Warman Chardon, Cyril Mignot, Swaroop Aradhya, et al.
Brain & Development|May 1, 2012
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosumCyril Mignot, Delphine Héron, Joseph Bursztyn, et al.
European Journal of Medical Genetics|October 4, 2019
The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndromeLise Larcher, Joy W Norris, Elodie Lejeune, et al.
Journal of Medical Case Reports|March 3, 2026
Major clinical improvement in a boy with developmental disabilities and a PTPN4 mutation with intensive re-education and an enriched environment in a day care hospital: a case reportCorentin Tasu, Alice Oppetit, Chantal Galbert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2021
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromesMarie Hully, Tommaso Lo Barco, Anna Kaminska, et al.
Case Reports in Psychiatry|June 20, 2017
Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious BlindnessCora Cravero, Vincent Guinchat, Jean Xavier, et al.
Pageof 24