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The Journal of Clinical Investigation|October 7, 2025

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissectionTheresa Nauth, Melanie Philipp, Sina Renner, et al.

Blood|July 29, 2025

Casein kinase 1α essentially regulates thrombopoiesis by driving megakaryocyte maturation and cytoskeleton organizationFerdinand Kollotzek, Kristina Mott, Melina Fischer, et al.

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.

Nature Genetics|September 29, 2014

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid featuresDavor Lessel, Bruno Vaz, Swagata Halder, et al.

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Showing results (31-40 of 34) with videos related to

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You have reached the last page of results.This site can display upto 34 results.

The Journal of Clinical Investigation|October 7, 2025

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissectionTheresa Nauth, Melanie Philipp, Sina Renner, et al.

Blood|July 29, 2025

Casein kinase 1α essentially regulates thrombopoiesis by driving megakaryocyte maturation and cytoskeleton organizationFerdinand Kollotzek, Kristina Mott, Melina Fischer, et al.

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.

Nature Genetics|September 29, 2014

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid featuresDavor Lessel, Bruno Vaz, Swagata Halder, et al.

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