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Human mutation

Showing results (1501-1510 of 5,734) with videos related to

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Human Mutation|December 18, 2018
New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosisGeorgios Pampalakis, Konstantinos Mitropoulos, Georgia Xiromerisiou, et al.
Human Mutation|December 18, 2018
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activatorsDong Hoon Shin, Jinsei Jung, Young Ik Koh, et al.
Human Mutation|October 28, 2006
Deletion of the parkin and PACRG gene promoter in early-onset parkinsonismSuzanne Lesage, Periquet Magali, Ebba Lohmann, et al.
Human Mutation|November 17, 2006
Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometryEva Gross, Georg Hölzl, Norbert Arnold, et al.
Human Mutation|April 3, 2007
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. OnlineKaate R J Vanmolkot, Elena Babini, Boukje de Vries, et al.
Human Mutation|April 3, 2007
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. OnlineAnthony Olind Fedele, Mirella Filocamo, Maja Di Rocco, et al.
Human Mutation|April 3, 2007
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. OnlineDaniel F Schorderet, Leila Tiab, Marie-Claire Gaillard, et al.
Human Mutation|September 7, 2006
Long contiguous stretches of homozygosity in the human genomeLing-Hui Li, Sheng-Feng Ho, Chien-Hsiun Chen, et al.
Human Mutation|September 14, 2006
BTKbase: the mutation database for X-linked agammaglobulinemiaJouni Väliaho, C I Edvard Smith, Mauno Vihinen
Human Mutation|September 16, 2006
Somatic microindels: analysis in mouse soma and comparison with the human germlineKelly D Gonzalez, Kathleen A Hill, Kai Li, et al.
Pageof 574

Showing results (1501-1510 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|December 18, 2018
New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosisGeorgios Pampalakis, Konstantinos Mitropoulos, Georgia Xiromerisiou, et al.
Human Mutation|December 18, 2018
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activatorsDong Hoon Shin, Jinsei Jung, Young Ik Koh, et al.
Human Mutation|October 28, 2006
Deletion of the parkin and PACRG gene promoter in early-onset parkinsonismSuzanne Lesage, Periquet Magali, Ebba Lohmann, et al.
Human Mutation|November 17, 2006
Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometryEva Gross, Georg Hölzl, Norbert Arnold, et al.
Human Mutation|April 3, 2007
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. OnlineKaate R J Vanmolkot, Elena Babini, Boukje de Vries, et al.
Human Mutation|April 3, 2007
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. OnlineAnthony Olind Fedele, Mirella Filocamo, Maja Di Rocco, et al.
Human Mutation|April 3, 2007
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. OnlineDaniel F Schorderet, Leila Tiab, Marie-Claire Gaillard, et al.
Human Mutation|September 7, 2006
Long contiguous stretches of homozygosity in the human genomeLing-Hui Li, Sheng-Feng Ho, Chien-Hsiun Chen, et al.
Human Mutation|September 14, 2006
BTKbase: the mutation database for X-linked agammaglobulinemiaJouni Väliaho, C I Edvard Smith, Mauno Vihinen
Human Mutation|September 16, 2006
Somatic microindels: analysis in mouse soma and comparison with the human germlineKelly D Gonzalez, Kathleen A Hill, Kai Li, et al.
Pageof 574