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L Faivre

Showing results (101-110 of 131) with videos related to

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European Journal of Human Genetics : EJHG|June 16, 2019
De novo variants in CNOT3 cause a variable neurodevelopmental disorderR Martin, M Splitt, D Genevieve, et al.
Clinical Genetics|July 5, 2011
What can we learn from old microdeletion syndromes using array-CGH screening?A L Mosca-Boidron, S Bouquillon, L Faivre, et al.
Clinical Genetics|February 24, 2017
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 casesE Ranza, C Huber, N Levin, et al.
Clinical Genetics|October 6, 2012
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairmentC Thauvin-Robinet, S Thomas, M Sinico, et al.
Journal of Medical Genetics|October 26, 2010
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiencyA S Lebre, M Rio, L Faivre d'Arcier, et al.
Clinical Genetics|October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type IS Saal, L Faivre, Bernard Aral, et al.
BMC Health Services Research|April 21, 2023
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French settingA L Soilly, C Robert-Viard, C Besse, et al.
Neuropediatrics|November 19, 2025
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment OutcomesV Thormeyer, Z Meyer, T Polster, et al.
Journal of Medical Genetics|March 4, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probandsL Faivre, G Collod-Beroud, A Child, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterionL Faivre, G Collod-Beroud, B Callewaert, et al.
Pageof 14

Showing results (101-110 of 131) with videos related to

Sort By:
Pageof 14
European Journal of Human Genetics : EJHG|June 16, 2019
De novo variants in CNOT3 cause a variable neurodevelopmental disorderR Martin, M Splitt, D Genevieve, et al.
Clinical Genetics|July 5, 2011
What can we learn from old microdeletion syndromes using array-CGH screening?A L Mosca-Boidron, S Bouquillon, L Faivre, et al.
Clinical Genetics|February 24, 2017
Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 casesE Ranza, C Huber, N Levin, et al.
Clinical Genetics|October 6, 2012
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairmentC Thauvin-Robinet, S Thomas, M Sinico, et al.
Journal of Medical Genetics|October 26, 2010
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiencyA S Lebre, M Rio, L Faivre d'Arcier, et al.
Clinical Genetics|October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type IS Saal, L Faivre, Bernard Aral, et al.
BMC Health Services Research|April 21, 2023
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French settingA L Soilly, C Robert-Viard, C Besse, et al.
Neuropediatrics|November 19, 2025
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment OutcomesV Thormeyer, Z Meyer, T Polster, et al.
Journal of Medical Genetics|March 4, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probandsL Faivre, G Collod-Beroud, A Child, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterionL Faivre, G Collod-Beroud, B Callewaert, et al.
Pageof 14