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Showing results (81-90 of 87) with videos related to

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Brain : a Journal of Neurology|August 13, 2015
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathyJoerg P Halter, W Michael, M Schüpbach, et al.
Nature Communications|July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Brain : a Journal of Neurology|January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Nature Communications|April 28, 2022
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophyHong Joo Kim, Payam Mohassel, Sandra Donkervoort, et al.
Human Mutation|April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna Sarkozy, Debbie Hicks, Judith Hudson, et al.
Nature Genetics|January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.
Brain : a Journal of Neurology|February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORDAndrea Cortese, Maike F Dohrn, Riccardo Curro, et al.
Pageof 9

Showing results (81-90 of 87) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 87 results.
Brain : a Journal of Neurology|August 13, 2015
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathyJoerg P Halter, W Michael, M Schüpbach, et al.
Nature Communications|July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Brain : a Journal of Neurology|January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Nature Communications|April 28, 2022
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophyHong Joo Kim, Payam Mohassel, Sandra Donkervoort, et al.
Human Mutation|April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna Sarkozy, Debbie Hicks, Judith Hudson, et al.
Nature Genetics|January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.
Brain : a Journal of Neurology|February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORDAndrea Cortese, Maike F Dohrn, Riccardo Curro, et al.
Pageof 9