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18 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel–Gruber syndrome	Auber, B		2007	72	5	p. 454-459	article
2	A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family	Cheng, J		2007	72	5	p. 471-477	article
3	Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization	Brunetti-Pierri, N		2007	72	5	p. 411-419	article
4	Colorectal cancer survivors undergoing genetic testing for hereditary non-polyposis colorectal cancer: motivational factors and psychosocial functioning	Esplen, MJ		2007	72	5	p. 394-401	article
5	Crouzon with acanthosis nigricans. Further delineation of the syndrome	Arnaud-López, L		2007	72	5	p. 405-410	article
6	Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome	Engenheiro, E		2007	72	5	p. 464-470	article
7	Cytogenetic and molecular characterization of the derivative Y chromosome: a case study of an azoospermic patient	Roovere, T		2007	72	5	p. 460-463	article
8	DMPK-associated myotonic dystrophy and CTG repeats in Alabama African Americans	Acton, RT		2007	72	5	p. 448-453	article
9	Formalin-fixed paraffin-embedded clinical tissues show spurious copy number changes in array-CGH profiles	Mc Sherry, EA		2007	72	5	p. 441-447	article
10	Genetics of Noonan syndrome – a new gene, and the search is still on	Stein, RA		2007	72	5	p. 402-404	article
11	GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease	Caroli, F		2007	72	5	p. 427-433	article
12	Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia	Watts, GDJ		2007	72	5	p. 420-426	article
13	Pallister–Killian syndrome: tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome	Huang, X-L		2007	72	5	p. 434-440	article
14	Parkin polymorphisms: risk for Parkinson’s disease in Indian population			2007	72	5	p. 484-486	article
15	Prenatal diagnosis of Miller-Dieker syndrome by ultrasound and molecular cytogenetic analysis			2007	72	5	p. 487-489	article
16	TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population	Suphapeetiporn, K		2007	72	5	p. 478-483	article
17	The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia			2007	72	5	p. 490-491	article
18	The role of common genetic risk variants in Parkinson disease	Tan, E-K		2007	72	5	p. 387-393	article

18 results found

Koninklijke Bibliotheek - National Library of the Netherlands