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Neurogenetics

Showing results (181-190 of 1,080) with videos related to

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Neurogenetics|September 9, 2020
Cerebellar dysplasia related to PIK3CA mutation: a three-case seriesMartina Di Stasi, Giana Izzo, Elisa Cattaneo, et al.
Neurogenetics|February 17, 2020
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotypeMatias Morin, Anna-Lena Forst, Paula Pérez-Torre, et al.
Neurogenetics|December 12, 2018
Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathyInes Kapferer-Seebacher, Quinten Waisfisz, Sylvia Boesch, et al.
Neurogenetics|October 28, 2017
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunitsRuth I C Glasgow, Kyle Thompson, Inês A Barbosa, et al.
Neurogenetics|January 12, 2018
Monogenic disorders that mimic the phenotype of Rett syndromeSiddharth Srivastava, Sonal Desai, Julie Cohen, et al.
Neurogenetics|December 17, 2017
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsyJ L Zambonin, D A Dyment, Y Xi, et al.
Neurogenetics|May 21, 2022
Genetic analysis of 18 families with tuberous sclerosis complexKaili Yin, Nan Lin, Qiang Lu, et al.
Neurogenetics|July 4, 2021
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variantsKatja Kloth, Bernarda Lozic, Julia Tagoe, et al.
Neurogenetics|November 10, 2021
Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegiaEva López, Carlos Casasnovas, Javier Giménez, et al.
Neurogenetics|January 18, 2022
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literatureEliane Chouery, Cybel Mehawej, Andre Megarbane
Pageof 108

Showing results (181-190 of 1,080) with videos related to

Sort By:
Pageof 108
Neurogenetics|September 9, 2020
Cerebellar dysplasia related to PIK3CA mutation: a three-case seriesMartina Di Stasi, Giana Izzo, Elisa Cattaneo, et al.
Neurogenetics|February 17, 2020
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotypeMatias Morin, Anna-Lena Forst, Paula Pérez-Torre, et al.
Neurogenetics|December 12, 2018
Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathyInes Kapferer-Seebacher, Quinten Waisfisz, Sylvia Boesch, et al.
Neurogenetics|October 28, 2017
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunitsRuth I C Glasgow, Kyle Thompson, Inês A Barbosa, et al.
Neurogenetics|January 12, 2018
Monogenic disorders that mimic the phenotype of Rett syndromeSiddharth Srivastava, Sonal Desai, Julie Cohen, et al.
Neurogenetics|December 17, 2017
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsyJ L Zambonin, D A Dyment, Y Xi, et al.
Neurogenetics|May 21, 2022
Genetic analysis of 18 families with tuberous sclerosis complexKaili Yin, Nan Lin, Qiang Lu, et al.
Neurogenetics|July 4, 2021
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variantsKatja Kloth, Bernarda Lozic, Julia Tagoe, et al.
Neurogenetics|November 10, 2021
Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegiaEva López, Carlos Casasnovas, Javier Giménez, et al.
Neurogenetics|January 18, 2022
A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literatureEliane Chouery, Cybel Mehawej, Andre Megarbane
Pageof 108