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                             19 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A Common Functional Regulatory Variant at a Type 2 Diabetes Locus Upregulates ARAP1 Expression in the Pancreatic Beta Cell Kulzer, Jennifer R.
2014
94 2 p. 186-197
12 p.
artikel
2 A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome Lim, Sze Chern
2014
94 2 p. 209-222
14 p.
artikel
3 Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks Peloso, Gina M.
2014
94 2 p. 223-232
10 p.
artikel
4 A Statistical Framework to Guide Sequencing Choices in Pedigrees Cheung, Charles Y.K.
2014
94 2 p. 257-267
11 p.
artikel
5 Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis Holmes, Michael V.
2014
94 2 p. 312-
1 p.
artikel
6 Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis Holmes, Michael V.
2014
94 2 p. 198-208
11 p.
artikel
7 ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function Tummala, Hemanth
2014
94 2 p. 246-256
11 p.
artikel
8 Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects Williamson, Kathleen A.
2014
94 2 p. 295-302
8 p.
artikel
9 Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans Humbert, Camille
2014
94 2 p. 288-294
7 p.
artikel
10 Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia Esteves, Typhaine
2014
94 2 p. 268-277
10 p.
artikel
11 Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy Tuz, Karina
2014
94 2 p. 310-
1 p.
artikel
12 Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation Howard, Malcolm F.
2014
94 2 p. 278-287
10 p.
artikel
13 NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability Bosch, Daniëlle G.M.
2014
94 2 p. 303-309
7 p.
artikel
14 Revisiting the Thrifty Gene Hypothesis via 65 Loci Associated with Susceptibility to Type 2 Diabetes Ayub, Qasim
2014
94 2 p. 176-185
10 p.
artikel
15 Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways Freeze, Hudson H.
2014
94 2 p. 161-175
15 p.
artikel
16 The IL-33-ST2L Pathway Is Associated with Coronary Artery Disease in a Chinese Han Population Tu, Xin
2014
94 2 p. 311-
1 p.
artikel
17 This Month in Genetics Garber, Kathryn B.
2014
94 2 p. 159-160
2 p.
artikel
18 This Month in The Journal Ratzel, Sarah
2014
94 2 p. 157-158
2 p.
artikel
19 Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol Lange, Leslie A.
2014
94 2 p. 233-245
13 p.
artikel
                             19 gevonden resultaten
 
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