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11 gevonden resultaten

nr	titel	auteur	tijdschrift	jaar	jaarg.	afl.	pagina('s)	type
1	Altered serum levels of platelet-derived growth factor receptor β and cluster of differentiation 13 suggest a role for pericytes in West syndrome	Watanabe, Yusuke			45	9	p. 479-486	artikel
2	A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome	Nerakh, Gayatri			45	9	p. 512-516	artikel
3	A serial analysis of serum aspartate aminotransferase levels in patients with acute encephalopathy with biphasic seizures and late reduced diffusion and prolonged febrile seizure	Kasai, Ayaka			45	9	p. 487-494	artikel
4	Call For Abstracts For Oral And Poster Presentations The International Session				45	9	p. iii	artikel
5	Contents				45	9	p. OBC	artikel
6	Cover				45	9	p. IBC	artikel
7	Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach	Wong, Rachel Sze Hui			45	9	p. 523-531	artikel
8	Editorial Board				45	9	p. IFC	artikel
9	Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome	Wu, Chenchen			45	9	p. 495-504	artikel
10	Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A	Okubo, Yukimune			45	9	p. 505-511	artikel
11	Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease	Koshu, Kiri			45	9	p. 517-522	artikel

11 gevonden resultaten

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