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                             29 results found
no title author magazine year volume issue page(s) type
1 Acute Infantile Liver Failure Due to Mutations in the TRMU Gene Zeharia, Avraham
 2010
 86 2 p. 295-
1 p.
 article
2 Allelic Skewing of DNA Methylation Is Widespread across the Genome Schalkwyk, Leonard C.
 2010
 86 2 p. 196-212
17 p.
 article
3 A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans Stattin, Eva-Lena
 2010
 86 2 p. 126-137
12 p.
 article
4 Announcement 2010
 86 2 p. 296-
1 p.
 article
5 Association of JAG1 with Bone Mineral Density and Osteoporotic Fractures: A Genome-wide Association Study and Follow-up Replication Studies Kung, Annie W.C.
 2010
 86 2 p. 229-239
11 p.
 article
6 Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene Levy-Litan, Varda
 2010
 86 2 p. 273-278
6 p.
 article
7 Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome Iqbal, Zafar
 2010
 86 2 p. 254-261
8 p.
 article
8 Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability Ruano, Dina
 2010
 86 2 p. 113-125
13 p.
 article
9 Genetic Dilemmas and the Right to an Open Future Bredenoord, Annelien
 2010
 86 2 p. 108-
1 p.
 article
10 Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene Jakkula, Eveliina
 2010
 86 2 p. 285-291
7 p.
 article
11 Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome Schneppenheim, Reinhard
 2010
 86 2 p. 279-284
6 p.
 article
12 Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment Schraders, Margit
 2010
 86 2 p. 138-147
10 p.
 article
13 Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation Edvardson, Simon
 2010
 86 2 p. 294-
1 p.
 article
14 Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets Lorenz-Depiereux, Bettina
 2010
 86 2 p. 267-272
6 p.
 article
15 Mapping Allele-Specific DNA Methylation: A New Tool for Maximizing Information from GWAS Tycko, Benjamin
 2010
 86 2 p. 109-112
4 p.
 article
16 Mutations in Grxcr1 Are The Basis for Inner Ear Dysfunction in the Pirouette Mouse Odeh, Hana
 2010
 86 2 p. 148-160
13 p.
 article
17 Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa Wang, Hui
 2010
 86 2 p. 293-
1 p.
 article
18 Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly Giannandrea, Maila
 2010
 86 2 p. 185-195
11 p.
 article
19 Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy Poulter, James A.
 2010
 86 2 p. 248-253
6 p.
 article
20 Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy Nikopoulos, Konstantinos
 2010
 86 2 p. 240-247
8 p.
 article
21 No Evidence of Skin Blisters with Human Desmocollin-3 Gene Mutation Payne, Aimee S.
 2010
 86 2 p. 292-
1 p.
 article
22 Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies Bolduc, Véronique
 2010
 86 2 p. 213-221
9 p.
 article
23 Response to Payne Ahmad, Wasim
 2010
 86 2 p. 292-
1 p.
 article
24 Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia Doherty, Leana
 2010
 86 2 p. 222-228
7 p.
 article
25 ROADTRIPS: Case-Control Association Testing with Partially or Completely Unknown Population and Pedigree Structure Thornton, Timothy
 2010
 86 2 p. 172-184
13 p.
 article
26 The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans Donnelly, Michael P.
 2010
 86 2 p. 161-171
11 p.
 article
27 This Month in Genetics Garber, Kathryn B.
 2010
 86 2 p. 105-107
3 p.
 article
28 This Month in The Journal Bungartz, Kathryn D.
 2010
 86 2 p. 103-104
2 p.
 article
29 Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1 van der Lelij, Petra
 2010
 86 2 p. 262-266
5 p.
 article
                             29 results found
 
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