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Published in International journal of molecular sciences (01.09.2024)
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Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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Journal Article
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency
Veldman, Bram C F, Kuper, Willemijn F E, Lilien, Marc, Schuurs-Hoeijmakers, Janneke H M, Marcelis, Carlo, Phan, Milan, Hettinga, Ymkje, Talsma, Herman E, van Hasselt, Peter M, Haijes, Hanneke A
Published in American journal of medical genetics. Part A (01.07.2021)
Published in American journal of medical genetics. Part A (01.07.2021)
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