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Clinical genetics

Showing results (521-530 of 7,173) with videos related to

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Clinical Genetics|May 10, 2017
Matrix metalloproteinase family polymorphisms and the risk of aortic aneurysmal diseases: A systematic review and meta-analysisT Li, Z Lv, J-J Jing, et al.
Clinical Genetics|April 30, 2017
Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotypeC Santoro, T Giugliano, M A B Melone, et al.
Clinical Genetics|July 11, 2017
Phenotypic spectrum associated with de novo mutations in QRICH1 geneA Ververi, M Splitt, J C S Dean, et al.
Clinical Genetics|August 1, 1988
A genetic-diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experienceA M Dereymaeker, J P Fryns, J Haegeman, et al.
Clinical Genetics|April 18, 2018
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAPX Chen, F Wang, Y Zhang, et al.
Clinical Genetics|May 30, 2018
PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalitiesJ Suleiman, A M Al Hashem, B Tabarki, et al.
Clinical Genetics|September 2, 2016
Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patientsS Demirdas, E Dulfer, L Robert, et al.
Clinical Genetics|August 30, 2016
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in femalesR Webster, M T Cho, K Retterer, et al.
Clinical Genetics|September 21, 2016
Epispadias and the associated embryopathies: genetic and developmental basisK Suzuki, D Matsumaru, S Matsushita, et al.
Clinical Genetics|March 19, 2010
Identification of a novel locus for a USH3 like syndrome combined with congenital cataractS Dad, E Østergaard, T Thykjaer, et al.
Pageof 718

Showing results (521-530 of 7,173) with videos related to

Sort By:
Pageof 718
Clinical Genetics|May 10, 2017
Matrix metalloproteinase family polymorphisms and the risk of aortic aneurysmal diseases: A systematic review and meta-analysisT Li, Z Lv, J-J Jing, et al.
Clinical Genetics|April 30, 2017
Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotypeC Santoro, T Giugliano, M A B Melone, et al.
Clinical Genetics|July 11, 2017
Phenotypic spectrum associated with de novo mutations in QRICH1 geneA Ververi, M Splitt, J C S Dean, et al.
Clinical Genetics|August 1, 1988
A genetic-diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experienceA M Dereymaeker, J P Fryns, J Haegeman, et al.
Clinical Genetics|April 18, 2018
Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAPX Chen, F Wang, Y Zhang, et al.
Clinical Genetics|May 30, 2018
PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalitiesJ Suleiman, A M Al Hashem, B Tabarki, et al.
Clinical Genetics|September 2, 2016
Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patientsS Demirdas, E Dulfer, L Robert, et al.
Clinical Genetics|August 30, 2016
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in femalesR Webster, M T Cho, K Retterer, et al.
Clinical Genetics|September 21, 2016
Epispadias and the associated embryopathies: genetic and developmental basisK Suzuki, D Matsumaru, S Matsushita, et al.
Clinical Genetics|March 19, 2010
Identification of a novel locus for a USH3 like syndrome combined with congenital cataractS Dad, E Østergaard, T Thykjaer, et al.
Pageof 718