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Sarit Ravid

Showing results (41-50 of 44) with videos related to

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Genetics in Medicine Open|December 13, 2024
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical managementYara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, et al.
American Journal of Human Genetics|June 24, 2008
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophyDaniella Magen, Costa Georgopoulos, Peter Bross, et al.
Brain : a Journal of Neurology|November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive courseAlessandro Esposito, Antonio Falace, Matias Wagner, et al.
American Journal of Human Genetics|February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.
Pageof 5

Showing results (41-50 of 44) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 44 results.
Genetics in Medicine Open|December 13, 2024
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical managementYara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, et al.
American Journal of Human Genetics|June 24, 2008
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophyDaniella Magen, Costa Georgopoulos, Peter Bross, et al.
Brain : a Journal of Neurology|November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive courseAlessandro Esposito, Antonio Falace, Matias Wagner, et al.
American Journal of Human Genetics|February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.
Pageof 5