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Abdelkrim Saadi

Showing results (1-10 of 8) with videos related to

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European Journal of Medical Genetics|April 1, 2009
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian familyAbdelkrim Saadi, Guntram Borck, Nathalie Boddaert, et al.
Neurogenetics|December 3, 2015
Refining the phenotype associated with CASC5 mutationAbdelkrim Saadi, Florine Verny, Karine Siquier-Pernet, et al.
Human Mutation|August 20, 2013
Mutation in TTI2 reveals a role for triple T complex in human brain developmentMaéva Langouët, Abdelkrim Saadi, Guillaume Rieunier, et al.
American Journal of Medical Genetics. Part A|June 30, 2023
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformitiesAbdelkrim Saadi, Claire Navarro, Ozge Ozalp, et al.
Nature Communications|July 5, 2017
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual abilityAline Brechet, Rebecca Buchert, Jochen Schwenk, et al.
Human Genetics|November 20, 2018
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutationsDavor Lessel, Ayse Bilge Ozel, Susan E Campbell, et al.
American Journal of Human Genetics|April 5, 2016
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and HypotoniaElizabeth J Bhoj, Dong Li, Margaret Harr, et al.
American Journal of Human Genetics|July 25, 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A Husain, Mona Grimmel, Matias Wagner, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
European Journal of Medical Genetics|April 1, 2009
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian familyAbdelkrim Saadi, Guntram Borck, Nathalie Boddaert, et al.
Neurogenetics|December 3, 2015
Refining the phenotype associated with CASC5 mutationAbdelkrim Saadi, Florine Verny, Karine Siquier-Pernet, et al.
Human Mutation|August 20, 2013
Mutation in TTI2 reveals a role for triple T complex in human brain developmentMaéva Langouët, Abdelkrim Saadi, Guillaume Rieunier, et al.
American Journal of Medical Genetics. Part A|June 30, 2023
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformitiesAbdelkrim Saadi, Claire Navarro, Ozge Ozalp, et al.
Nature Communications|July 5, 2017
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual abilityAline Brechet, Rebecca Buchert, Jochen Schwenk, et al.
Human Genetics|November 20, 2018
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutationsDavor Lessel, Ayse Bilge Ozel, Susan E Campbell, et al.
American Journal of Human Genetics|April 5, 2016
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and HypotoniaElizabeth J Bhoj, Dong Li, Margaret Harr, et al.
American Journal of Human Genetics|July 25, 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A Husain, Mona Grimmel, Matias Wagner, et al.
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