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The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.
Gardner JM, Wildenberg SC, Keiper NM, Novak EK, Rusiniak ME, Swank RT, Puri N, Finger JN, Hagiwara N, Lehman AL, Gales TL, Bayer ME, King RA, Brilliant MH. Gardner JM, et al. Among authors: lehman al. Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9238-43. doi: 10.1073/pnas.94.17.9238. Proc Natl Acad Sci U S A. 1997. PMID: 9256466 Free PMC article.
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB, Feichtinger RG, Abela L, van Gemert LA, Aubart M, Dufeu-Berat CM, Boddaert N, de Coo R, Stühn L, Hebbink J, Heinritz W, Hildebrandt J, Himmelreich N, Korenke C, Lehman A, Leyland T, Makowski C, Martinez Marin RJ, Marzin P, Mühlhausen C, Rio M, Rotig A, Roux CJ, Schiff M, Haack TB, Syrbe S, Zylicz SA, Thiel C, Veiga da Cunha M, van Schaftingen E, Wagner M, Mayr JA, Wevers RA, Boltshauser E, Willemsen MA. Wortmann SB, et al. Among authors: lehman a. Neurol Genet. 2024 Apr 5;10(2):e200146. doi: 10.1212/NXG.0000000000200146. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38617198 Free PMC article.
A Lytic Bone Lesion in a 23-month-old Boy from Kenya.
Goren LR, Lehman AC, Luquette M, Howard C, Thielen BK. Goren LR, et al. Among authors: lehman ac. Pediatr Rev. 2024 Apr 1;45(4):225-229. doi: 10.1542/pir.2021-005473. Pediatr Rev. 2024. PMID: 38556514 No abstract available.
584 results