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                             23 results found
no title author magazine year volume issue page(s) type
1 Age-Dependent Germline Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germline Selection Yoon, Song-Ro
 2013
 92 6 p. 917-926
10 p.
 article
2 A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis Cheung, Yee Him
 2013
 92 6 p. 996-1000
5 p.
 article
3 Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder Malfait, Fransiska
 2013
 92 6 p. 935-945
11 p.
 article
4 Detecting and Characterizing Genomic Signatures of Positive Selection in Global Populations Liu, Xuanyao
 2013
 92 6 p. 866-881
16 p.
 article
5 Enhanced Localization of Genetic Samples through Linkage-Disequilibrium Correction Baran, Yael
 2013
 92 6 p. 882-894
13 p.
 article
6 FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development Unger, Sheila
 2013
 92 6 p. 990-995
6 p.
 article
7 Frank Ruddle (1929–2013) Kucherlapati, Raju
 2013
 92 6 p. 839-840
2 p.
 article
8 Genome-wide Characterization of Shared and Distinct Genetic Components that Influence Blood Lipid Levels in Ethnically Diverse Human Populations Coram, Marc A.
 2013
 92 6 p. 904-916
13 p.
 article
9 Germline BAP1 Mutations Predispose to Renal Cell Carcinomas Popova, Tatiana
 2013
 92 6 p. 974-980
7 p.
 article
10 Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion Xi, Zhengrui
 2013
 92 6 p. 981-989
9 p.
 article
11 Large Sample Size, Wide Variant Spectrum, and Advanced Machine-Learning Technique Boost Risk Prediction for Inflammatory Bowel Disease Wei, Zhi
 2013
 92 6 p. 1008-1012
5 p.
 article
12 Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance Peeters, Kristien
 2013
 92 6 p. 955-964
10 p.
 article
13 Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders Nakajima, Masahiro
 2013
 92 6 p. 927-934
8 p.
 article
14 Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia Oates, Emily C.
 2013
 92 6 p. 965-973
9 p.
 article
15 Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy Neveling, Kornelia
 2013
 92 6 p. 946-954
9 p.
 article
16 Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis Martignetti, John A.
 2013
 92 6 p. 1001-1007
7 p.
 article
17 Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease Li, Ming
 2013
 92 6 p. 895-903
9 p.
 article
18 Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease Li, Ming
 2013
 92 6 p. 1014-
1 p.
 article
19 Network-Based Multiple Sclerosis Pathway Analysis with GWAS Data from 15,000 Cases and 30,000 Controls 2013
 92 6 p. 854-865
12 p.
 article
20 Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections Prakash, Siddharth K.
 2013
 92 6 p. 1013-
1 p.
 article
21 Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants Ionita-Laza, Iuliana
 2013
 92 6 p. 841-853
13 p.
 article
22 This Month in Genetics Garber, Kathryn B.
 2013
 92 6 p. 837-838
2 p.
 article
23 This Month in The Journal Ratzel, Sarah
 2013
 92 6 p. 835-836
2 p.
 article
                             23 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands