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Clinical genetics

Showing results (541-550 of 7,173) with videos related to

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Clinical Genetics|April 21, 2018
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophyM Wesdorp, V Schreur, A J Beynon, et al.
Clinical Genetics|April 14, 2018
Expanding the clinical spectrum of biallelic ZNF335 variantsK Stouffs, A B Stergachis, T Vanderhasselt, et al.
Clinical Genetics|March 1, 1988
Population studies of Huntington's disease in WalesO W Quarrell, A Tyler, M P Jones, et al.
Clinical Genetics|June 9, 2018
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegiaH Hengel, R Keimer, W Deigendesch, et al.
Clinical Genetics|June 1, 2018
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneysY A Ito, A C Smith, K D Kernohan, et al.
Clinical Genetics|September 1, 1985
Steroid sulphatase deficiency diseaseG Lykkesfeldt, H Høyer, H H Ibsen, et al.
Clinical Genetics|June 14, 2019
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I RegistryLorne A Clarke, Roberto Giugliani, Nathalie Guffon, et al.
Clinical Genetics|April 20, 2019
The clinical presentation caused by truncating CHD8 variantsSofia Douzgou, Hui Wen Liang, Kay Metcalfe, et al.
Clinical Genetics|September 6, 2018
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patientsPu Miao, Jianhua Feng, Yufan Guo, et al.
Clinical Genetics|July 11, 2018
Report of second case and clinical and molecular characterization of Eiken syndromeA Moirangthem, D L Narayanan, P Jacob, et al.
Pageof 718

Showing results (541-550 of 7,173) with videos related to

Sort By:
Pageof 718
Clinical Genetics|April 21, 2018
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophyM Wesdorp, V Schreur, A J Beynon, et al.
Clinical Genetics|April 14, 2018
Expanding the clinical spectrum of biallelic ZNF335 variantsK Stouffs, A B Stergachis, T Vanderhasselt, et al.
Clinical Genetics|March 1, 1988
Population studies of Huntington's disease in WalesO W Quarrell, A Tyler, M P Jones, et al.
Clinical Genetics|June 9, 2018
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegiaH Hengel, R Keimer, W Deigendesch, et al.
Clinical Genetics|June 1, 2018
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneysY A Ito, A C Smith, K D Kernohan, et al.
Clinical Genetics|September 1, 1985
Steroid sulphatase deficiency diseaseG Lykkesfeldt, H Høyer, H H Ibsen, et al.
Clinical Genetics|June 14, 2019
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I RegistryLorne A Clarke, Roberto Giugliani, Nathalie Guffon, et al.
Clinical Genetics|April 20, 2019
The clinical presentation caused by truncating CHD8 variantsSofia Douzgou, Hui Wen Liang, Kay Metcalfe, et al.
Clinical Genetics|September 6, 2018
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patientsPu Miao, Jianhua Feng, Yufan Guo, et al.
Clinical Genetics|July 11, 2018
Report of second case and clinical and molecular characterization of Eiken syndromeA Moirangthem, D L Narayanan, P Jacob, et al.
Pageof 718