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Martin Delatycki

Showing results (51-60 of 57) with videos related to

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Annals of Neurology|August 26, 2021
Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working GroupIan H Harding, Sidhant Chopra, Filippo Arrigoni, et al.
American Journal of Human Genetics|February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumIris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Nature Communications|October 2, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Nature Communications|October 22, 2020
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
European Journal of Human Genetics : EJHG|April 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individualsDana E Layo-Carris, Emily E Lubin, Annabel K Sangree, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
Pageof 6

Showing results (51-60 of 57) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 57 results.
Annals of Neurology|August 26, 2021
Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working GroupIan H Harding, Sidhant Chopra, Filippo Arrigoni, et al.
American Journal of Human Genetics|February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumIris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Nature Communications|October 2, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Nature Communications|October 22, 2020
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
European Journal of Human Genetics : EJHG|April 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individualsDana E Layo-Carris, Emily E Lubin, Annabel K Sangree, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
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