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9 gevonden resultaten

nr	titel	auteur	tijdschrift	jaar	jaarg.	afl.	pagina('s)	type
1	A response to “Personalised medicine and population health: breast and ovarian cancer”	Antoniou, Antonis		2019	138	3	p. 287-289	artikel
2	Author response to “a response to ‘personalised medicine and population health: breast and ovarian cancer’”	Narod, Steven A.		2019	138	3	p. 291-292	artikel
3	Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype	Ruhno, Corey		2019	138	3	p. 241-256	artikel
4	Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders	Negri, Gloria		2019	138	3	p. 257-269	artikel
5	Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis	Amar, Ali		2019	138	3	p. 211-219	artikel
6	NUP214 deficiency causes severe encephalopathy and microcephaly in humans	Shamseldin, Hanan E.		2019	138	3	p. 221-229	artikel
7	PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly	Shaheen, Ranad		2019	138	3	p. 231-239	artikel
8	Shared genetic architecture between metabolic traits and Alzheimer’s disease: a large-scale genome-wide cross-trait analysis	Zhu, Zhaozhong		2019	138	3	p. 271-285	artikel
9	Shared genetic architecture between metabolic traits and Alzheimer’s disease: a large-scale genome-wide cross-trait analysis	Zhu, Zhaozhong			138	3	p. 271-285	artikel

9 gevonden resultaten

Koninklijke Bibliotheek - Nationale Bibliotheek van Nederland