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24 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	A Distinct DNA-Methylation Boundary in the 5′- Upstream Sequence of the FMR1 Promoter Binds Nuclear Proteins and Is Lost in Fragile X Syndrome	Naumann, Anja		2009	85	5	p. 606-616 11 p.	article
2	A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma	Landi, Maria Teresa		2009	85	5	p. 679-691 13 p.	article
3	ATRIUM: Testing Untyped SNPs in Case-Control Association Studies with Related Individuals	Wang, Zuoheng		2009	85	5	p. 667-678 12 p.	article
4	Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs	Zhao, Chen		2009	85	5	p. 617-627 11 p.	article
5	CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila	Zweier, Christiane		2009	85	5	p. 655-666 12 p.	article
6	Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans	Medland, Sarah E.		2009	85	5	p. 750-755 6 p.	article
7	FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome	Alazami, Anas M.		2009	85	5	p. 756- 1 p.	article
8	Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip	Talmud, Philippa J.		2009	85	5	p. 628-642 15 p.	article
9	Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature	Morales, Jose		2009	85	5	p. 558-568 11 p.	article
10	Identification of CANT1 Mutations in Desbuquois Dysplasia	Huber, Céline		2009	85	5	p. 706-710 5 p.	article
11	Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa	Davidson, Alice E.		2009	85	5	p. 581-592 12 p.	article
12	Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia	Abdollahi, Mohammad R.		2009	85	5	p. 737-744 8 p.	article
13	Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development	Urban, Zsolt		2009	85	5	p. 593-605 13 p.	article
14	Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta	El-Sayed, Walid		2009	85	5	p. 699-705 7 p.	article
15	Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness	van Genderen, Maria M.		2009	85	5	p. 730-736 7 p.	article
16	Public Opinion about the Importance of Privacy in Biobank Research	Kaufman, David J.		2009	85	5	p. 643-654 12 p.	article
17	Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans	Li, Zheng		2009	85	5	p. 711-719 9 p.	article
18	Sequence Variants in Three Loci Influence Monocyte Counts and Erythrocyte Volume	Ferreira, Manuel A.R.		2009	85	5	p. 745-749 5 p.	article
19	Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n	Sato, Nozomu		2009	85	5	p. 544-557 14 p.	article
20	The Relationship between Imputation Error and Statistical Power in Genetic Association Studies in Diverse Populations	Huang, Lucy		2009	85	5	p. 692-698 7 p.	article
21	This Month in Genetics	Garber, Kathryn B.		2009	85	5	p. 541-543 3 p.	article
22	This Month in The Journal	Bungartz, Kathryn D.		2009	85	5	p. 539-540 2 p.	article
23	TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness	Audo, Isabelle		2009	85	5	p. 720-729 10 p.	article
24	Use of a Modified α-N-Acetylgalactosaminidase in the Development of Enzyme Replacement Therapy for Fabry Disease	Tajima, Youichi		2009	85	5	p. 569-580 12 p.	article

24 results found

Koninklijke Bibliotheek - National Library of the Netherlands