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Laurence Perrin

Showing results (11-20 of 81) with videos related to

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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.
European Journal of Medical Genetics|January 2, 2010
Craniosynostosis: A rare complication of pycnodysostosisSara Osimani, Isabelle Husson, Sandrine Passemard, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Unilateral agenesis of the abdominal wall musculature: An early muscle deficiencyMarion Gerard-Blanluet, Marylin Port-Lis, Clarisse Baumann, et al.
Fetal and Pediatric Pathology|January 6, 2011
Aphallia, lung agenesis and multiple defects of blastogenesisMarion Gérard-Blanluet, Véronique Lambert, Suonavy Khung-Savatovsky, et al.
The Journal of Clinical Endocrinology and Metabolism|November 3, 2005
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activityTim Ulinski, Laurence Perrin, Michael Morris, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplicationJérôme Rambaud, Isabelle Marey, Céline Dupont, et al.
Brain : a Journal of Neurology|October 7, 2023
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondriaArnaud Chevrollier, Adeline Alice Bonnard, Lyse Ruaud, et al.
BMC Medicine|April 14, 2024
Olfactory bulb anomalies in KBG syndrome mouse model and patientsKara Goodkey, Anita Wischmeijer, Laurence Perrin, et al.
BMC Medicine|July 11, 2024
Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patientsKara Goodkey, Anita Wischmeijer, Laurence Perrin, et al.
Ebiomedicine|April 2, 2025
The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunctionPeter Kovermann, Allan Bayat, Christina D Fenger, et al.
Pageof 9

Showing results (11-20 of 81) with videos related to

Sort By:
Pageof 9
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.
European Journal of Medical Genetics|January 2, 2010
Craniosynostosis: A rare complication of pycnodysostosisSara Osimani, Isabelle Husson, Sandrine Passemard, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Unilateral agenesis of the abdominal wall musculature: An early muscle deficiencyMarion Gerard-Blanluet, Marylin Port-Lis, Clarisse Baumann, et al.
Fetal and Pediatric Pathology|January 6, 2011
Aphallia, lung agenesis and multiple defects of blastogenesisMarion Gérard-Blanluet, Véronique Lambert, Suonavy Khung-Savatovsky, et al.
The Journal of Clinical Endocrinology and Metabolism|November 3, 2005
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activityTim Ulinski, Laurence Perrin, Michael Morris, et al.
American Journal of Medical Genetics. Part A|July 24, 2012
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplicationJérôme Rambaud, Isabelle Marey, Céline Dupont, et al.
Brain : a Journal of Neurology|October 7, 2023
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondriaArnaud Chevrollier, Adeline Alice Bonnard, Lyse Ruaud, et al.
BMC Medicine|April 14, 2024
Olfactory bulb anomalies in KBG syndrome mouse model and patientsKara Goodkey, Anita Wischmeijer, Laurence Perrin, et al.
BMC Medicine|July 11, 2024
Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patientsKara Goodkey, Anita Wischmeijer, Laurence Perrin, et al.
Ebiomedicine|April 2, 2025
The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunctionPeter Kovermann, Allan Bayat, Christina D Fenger, et al.
Pageof 9