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Showing results (91-100 of 110) with videos related to

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Molecular Syndromology|October 30, 2013
Array-CGH Analysis Suggests Genetic Heterogeneity in RhombencephalosynapsisF Démurger, L Pasquier, C Dubourg, et al.
Clinical Genetics|March 3, 2018
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephalyA-L Bruel, J Thevenon, F Huet, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 3, 1999
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyK Pelin, P Hilpelä, K Donner, et al.
Neurology|September 23, 2009
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutationsS Passemard, L Titomanlio, M Elmaleh, et al.
Prenatal Diagnosis|November 14, 2012
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?F Coron, T Rousseau, G Jondeau, 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.
Clinical Genetics|July 15, 2017
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patientsE Chérot, B Keren, C Dubourg, et al.
Clinical Genetics|September 26, 2015
Fetal phenotypes in otopalatodigital spectrum disordersS Naudion, S Moutton, I Coupry, et al.
Clinical Genetics|March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsN Lehman, A C Mazery, A Visier, et al.
Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, et al.
Pageof 11

Showing results (91-100 of 110) with videos related to

Sort By:
Pageof 11
Molecular Syndromology|October 30, 2013
Array-CGH Analysis Suggests Genetic Heterogeneity in RhombencephalosynapsisF Démurger, L Pasquier, C Dubourg, et al.
Clinical Genetics|March 3, 2018
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephalyA-L Bruel, J Thevenon, F Huet, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 3, 1999
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyK Pelin, P Hilpelä, K Donner, et al.
Neurology|September 23, 2009
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutationsS Passemard, L Titomanlio, M Elmaleh, et al.
Prenatal Diagnosis|November 14, 2012
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?F Coron, T Rousseau, G Jondeau, 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.
Clinical Genetics|July 15, 2017
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patientsE Chérot, B Keren, C Dubourg, et al.
Clinical Genetics|September 26, 2015
Fetal phenotypes in otopalatodigital spectrum disordersS Naudion, S Moutton, I Coupry, et al.
Clinical Genetics|March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsN Lehman, A C Mazery, A Visier, et al.
Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, et al.
Pageof 11