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Ana Velic

Showing results (41-50 of 45) with videos related to

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American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, et al.
American Journal of Respiratory and Critical Care Medicine|August 4, 2022
Pulmonary Surfactant Proteins Are Inhibited by Immunoglobulin A Autoantibodies in Severe COVID-19Tobias Sinnberg, Christa Lichtensteiger, Omar Hasan Ali, et al.
American Journal of Human Genetics|May 22, 2021
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorderHolger Hengel, Shabab B Hannan, Sarah Dyack, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
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Showing results (41-50 of 45) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 45 results.
American Journal of Human Genetics|January 17, 2025
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsyRebecca Buchert, Martin D Burkhalter, Chrisovalantou Huridou, et al.
American Journal of Respiratory and Critical Care Medicine|August 4, 2022
Pulmonary Surfactant Proteins Are Inhibited by Immunoglobulin A Autoantibodies in Severe COVID-19Tobias Sinnberg, Christa Lichtensteiger, Omar Hasan Ali, et al.
American Journal of Human Genetics|May 22, 2021
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorderHolger Hengel, Shabab B Hannan, Sarah Dyack, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
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