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Showing results (281-290 of 284) with videos related to

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Brain : a Journal of Neurology|February 9, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disordersAfshin Saffari, Tracy Lau, Homa Tajsharghi, et al.
Brain : a Journal of Neurology|August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
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Showing results (281-290 of 284) with videos related to

Sort By:
Pageof 29
You have reached the last page of results.This site can display upto 284 results.
Brain : a Journal of Neurology|February 9, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disordersAfshin Saffari, Tracy Lau, Homa Tajsharghi, et al.
Brain : a Journal of Neurology|August 25, 2021
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implicationsKatrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
Pageof 29