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A Ballabio

Showing results (181-190 of 200) with videos related to

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Nature Communications|December 12, 2019
TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathwayA Scotto Rosato, S Montefusco, C Soldati, et al.
Neurology|November 30, 2000
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1A Gambardella, G Annesi, M De Fusco, et al.
Human Molecular Genetics|November 25, 2000
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1B Incerti, K Cortese, A Pizzigoni, et al.
Human Genetics|December 24, 1997
Exclusion of PPEF as the gene causing X-linked juvenile retinoschisisE van de Vosse, B Franco, P van der Bent, et al.
Human Molecular Genetics|October 1, 1995
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3G B Ferrero, B Franco, E J Roth, et al.
American Journal of Medical Genetics|May 5, 2001
Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani familyW Ahmad, S Noci, M Faiyaz ul Haque, et al.
Human Genetics|February 24, 2001
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North AmericaM T Bassi, A A Bergen, P Bitoun, et al.
Genomics|December 28, 1999
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter familyM T Bassi, M P Sperandeo, B Incerti, et al.
American Journal of Human Genetics|February 17, 2001
Identification of the gene for oral-facial-digital type I syndromeM I Ferrante, G Giorgio, S A Feather, et al.
Human Molecular Genetics|January 15, 1999
EYA4, a novel vertebrate gene related to Drosophila eyes absentG Borsani, A DeGrandi, A Ballabio, et al.
Pageof 20

Showing results (181-190 of 200) with videos related to

Sort By:
Pageof 20
Nature Communications|December 12, 2019
TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathwayA Scotto Rosato, S Montefusco, C Soldati, et al.
Neurology|November 30, 2000
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1A Gambardella, G Annesi, M De Fusco, et al.
Human Molecular Genetics|November 25, 2000
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1B Incerti, K Cortese, A Pizzigoni, et al.
Human Genetics|December 24, 1997
Exclusion of PPEF as the gene causing X-linked juvenile retinoschisisE van de Vosse, B Franco, P van der Bent, et al.
Human Molecular Genetics|October 1, 1995
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3G B Ferrero, B Franco, E J Roth, et al.
American Journal of Medical Genetics|May 5, 2001
Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani familyW Ahmad, S Noci, M Faiyaz ul Haque, et al.
Human Genetics|February 24, 2001
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North AmericaM T Bassi, A A Bergen, P Bitoun, et al.
Genomics|December 28, 1999
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter familyM T Bassi, M P Sperandeo, B Incerti, et al.
American Journal of Human Genetics|February 17, 2001
Identification of the gene for oral-facial-digital type I syndromeM I Ferrante, G Giorgio, S A Feather, et al.
Human Molecular Genetics|January 15, 1999
EYA4, a novel vertebrate gene related to Drosophila eyes absentG Borsani, A DeGrandi, A Ballabio, et al.
Pageof 20