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                             24 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism Paolini, Nahuel A.
2017
100 3 p. 506-522
17 p.
artikel
2 2016 ASHG Awards and Addresses 2017
100 3 p. 377-378
2 p.
artikel
3 CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy Barbé, Lise
2017
100 3 p. 488-505
18 p.
artikel
4 2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy 1 Lee, Brendan
2017
100 3 p. 397-400
4 p.
artikel
5 2016 Curt Stern Award Introduction: Brendan Lee 1 Beaudet, Arthur L.
2017
100 3 p. 395-396
2 p.
artikel
6 Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression Santoni, Federico A.
2017
100 3 p. 444-453
10 p.
artikel
7 Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits Civelek, Mete
2017
100 3 p. 428-443
16 p.
artikel
8 Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly Tawamie, Hasan
2017
100 3 p. 555-561
7 p.
artikel
9 Integrating Gene Expression with Summary Association Statistics to Identify Genes Associated with 30 Complex Traits Mancuso, Nicholas
2017
100 3 p. 473-487
15 p.
artikel
10 Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy Osborn, Daniel P.S.
2017
100 3 p. 537-545
9 p.
artikel
11 Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment Wiessner, Manuela
2017
100 3 p. 523-536
14 p.
artikel
12 2016 Presidential Address: Let’s Make Human Genetics Great (Again): The Importance of Beauty in Science 1 Dietz, Harry C.
2017
100 3 p. 379-384
6 p.
artikel
13 Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US Sanderson, Saskia C.
2017
100 3 p. 414-427
14 p.
artikel
14 Response to Yehia et al. Siraj, Abdul K.
2017
100 3 p. 564-565
2 p.
artikel
15 Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation Couto, Javier A.
2017
100 3 p. 546-554
9 p.
artikel
16 Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia Lim, Jae Seok
2017
100 3 p. 454-472
19 p.
artikel
17 This Month in Genetics Garber, Kathryn B.
2017
100 3 p. 375-376
2 p.
artikel
18 This Month in The Journal Ratzel, Sarah
2017
100 3 p. 373-374
2 p.
artikel
19 Thyroglobulin in Metastatic Thyroid Cancer: Culprit or Red Herring? Yehia, Lamis
2017
100 3 p. 562-563
2 p.
artikel
20 2016 Victor A. McKusick Leadership Award 1 Gartler, Stanley M.
2017
100 3 p. 403-405
3 p.
artikel
21 2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler 1 Jarvik, Gail P.
2017
100 3 p. 401-402
2 p.
artikel
22 Who’s Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy Pedersen, Brent S.
2017
100 3 p. 406-413
8 p.
artikel
23 2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling 1 Gusella, James F.
2017
100 3 p. 387-394
8 p.
artikel
24 2016 William Allan Award Introduction: James Gusella 1 Nelson, David L.
2017
100 3 p. 385-386
2 p.
artikel
                             24 gevonden resultaten
 
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