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Christos Proukakis

Showing results (41-50 of 64) with videos related to

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BMC Medical Genetics|November 12, 2015
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentationsThomas Iype, Vafa Alakbarzade, Mary Iype, et al.
Genome Research|October 30, 2020
Complex mosaic structural variations in human fetal brainsShobana Sekar, Livia Tomasini, Christos Proukakis, et al.
Communications Biology|July 6, 2022
Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA geneMarco Toffoli, Xiao Chen, Fritz J Sedlazeck, et al.
Nature Biotechnology|January 3, 2024
Detection of mosaic and population-level structural variants with Sniffles2Moritz Smolka, Luis F Paulin, Christopher M Grochowski, et al.
Nature Biotechnology|January 22, 2024
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2Moritz Smolka, Luis F Paulin, Christopher M Grochowski, et al.
Human Mutation|January 28, 2010
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)Katherine J Dick, Matthias Eckhardt, Coro Paisán-Ruiz, et al.
Acta Neuropathologica Communications|December 25, 2019
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencingDiego Perez-Rodriguez, Maria Kalyva, Melissa Leija-Salazar, et al.
Communications Biology|November 20, 2025
Single cell long read whole genome sequencing reveals somatic transposon activity in human brainMichal B Izydorczyk, Ester Kalef-Ezra, Dominic W Horner, et al.
American Journal of Human Genetics|October 26, 2010
Defective mitochondrial mRNA maturation is associated with spastic ataxiaAndrew H Crosby, Heema Patel, Barry A Chioza, et al.
Nature Genetics|October 27, 2004
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthaseMichael A Simpson, Harold Cross, Christos Proukakis, et al.
Pageof 7

Showing results (41-50 of 64) with videos related to

Sort By:
Pageof 7
BMC Medical Genetics|November 12, 2015
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentationsThomas Iype, Vafa Alakbarzade, Mary Iype, et al.
Genome Research|October 30, 2020
Complex mosaic structural variations in human fetal brainsShobana Sekar, Livia Tomasini, Christos Proukakis, et al.
Communications Biology|July 6, 2022
Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA geneMarco Toffoli, Xiao Chen, Fritz J Sedlazeck, et al.
Nature Biotechnology|January 3, 2024
Detection of mosaic and population-level structural variants with Sniffles2Moritz Smolka, Luis F Paulin, Christopher M Grochowski, et al.
Nature Biotechnology|January 22, 2024
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2Moritz Smolka, Luis F Paulin, Christopher M Grochowski, et al.
Human Mutation|January 28, 2010
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)Katherine J Dick, Matthias Eckhardt, Coro Paisán-Ruiz, et al.
Acta Neuropathologica Communications|December 25, 2019
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencingDiego Perez-Rodriguez, Maria Kalyva, Melissa Leija-Salazar, et al.
Communications Biology|November 20, 2025
Single cell long read whole genome sequencing reveals somatic transposon activity in human brainMichal B Izydorczyk, Ester Kalef-Ezra, Dominic W Horner, et al.
American Journal of Human Genetics|October 26, 2010
Defective mitochondrial mRNA maturation is associated with spastic ataxiaAndrew H Crosby, Heema Patel, Barry A Chioza, et al.
Nature Genetics|October 27, 2004
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthaseMichael A Simpson, Harold Cross, Christos Proukakis, et al.
Pageof 7