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Franco Laccone

Showing results (91-100 of 99) with videos related to

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Genes|January 21, 2022
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical ScoringDóra Nagy, Sarah Verheyen, Kristen M Wigby, et al.
Journal of Neurology|October 29, 2022
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide studyMartin Krenn, Merve Sener, Jakob Rath, et al.
Neurogenetics|December 22, 2005
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's diseaseSilke Metzger, Peter Bauer, Juergen Tomiuk, et al.
Human Genetics|July 19, 2006
Genetic analysis of candidate genes modifying the age-at-onset in Huntington's diseaseSilke Metzger, Peter Bauer, Jürgen Tomiuk, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.
American Journal of Human Genetics|June 19, 2026
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanismsRebecca Fluri, Mireia Coll-Tané, Theresa Brunet, et al.
European Journal of Human Genetics : EJHG|October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Denisa Weis, Ingvild Aukrust, et al.
American Journal of Human Genetics|November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disabilityAriane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.
The Lancet. Neurology|October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing studyMichael Zech, Robert Jech, Sylvia Boesch, et al.
Pageof 10

Showing results (91-100 of 99) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 99 results.
Genes|January 21, 2022
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical ScoringDóra Nagy, Sarah Verheyen, Kristen M Wigby, et al.
Journal of Neurology|October 29, 2022
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide studyMartin Krenn, Merve Sener, Jakob Rath, et al.
Neurogenetics|December 22, 2005
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's diseaseSilke Metzger, Peter Bauer, Juergen Tomiuk, et al.
Human Genetics|July 19, 2006
Genetic analysis of candidate genes modifying the age-at-onset in Huntington's diseaseSilke Metzger, Peter Bauer, Jürgen Tomiuk, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.
American Journal of Human Genetics|June 19, 2026
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanismsRebecca Fluri, Mireia Coll-Tané, Theresa Brunet, et al.
European Journal of Human Genetics : EJHG|October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Denisa Weis, Ingvild Aukrust, et al.
American Journal of Human Genetics|November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disabilityAriane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.
The Lancet. Neurology|October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing studyMichael Zech, Robert Jech, Sylvia Boesch, et al.
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