Items where Author is "Begtrup, A."
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(2025) Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genetics in Medicine. p. 23. ISSN 1098-3600
(2025) Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genetics in medicine : official journal of the American College of Medical Genetics. p. 101251. ISSN 1530-0366 (Electronic) 1098-3600 (Linking)
(2021) Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update). BLOOD CELLS MOLECULES AND DISEASES. ISSN 1079-9796 1096-0961 J9 - BLOOD CELL MOL DIS