| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Announcements 1 1. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please e-mail announcements to ajhg@ajhg.net. Submission must be received at least 7 weeks before the month of issue in which publication is requested. They must be double spaced with a 1½-inch margin on all sides. The maximum length is 250 words, excluding the address for correspondence. Please include a cover letter indicating the name of the sponsoring ASHG member.
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2007
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81 |
5 |
p. 1117-1118
2 p.
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artikel
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| 2 |
A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular Cardiomyopathy
|
Asimaki, Angeliki
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2007
|
81 |
5 |
p. 964-973
10 p.
|
artikel
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| 3 |
A Randomization Test for Controlling Population Stratification in Whole-Genome Association Studies
|
Kimmel, Gad
|
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2007
|
81 |
5 |
p. 895-905
11 p.
|
artikel
|
| 4 |
A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes
|
Easton, Douglas F.
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2007
|
81 |
5 |
p. 873-883
11 p.
|
artikel
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| 5 |
Engaging the ASHG Membership
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Boughman, Joann
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2007
|
81 |
5 |
p. 1115-1116
2 p.
|
artikel
|
| 6 |
Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance
|
Sun, Baodong
|
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2007
|
81 |
5 |
p. 1042-1049
8 p.
|
artikel
|
| 7 |
Erratum
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2007
|
81 |
5 |
p. 1114-
1 p.
|
artikel
|
| 8 |
Estimating Prevalence, False-Positive Rate, and False-Negative Rate with Use of Repeated Testing When True Responses Are Unknown
|
Jakobsdottir, Johanna
|
|
2007
|
81 |
5 |
p. 1111-1113
3 p.
|
artikel
|
| 9 |
Family-Based Association Tests for Genomewide Association Scans
|
Chen, Wei-Min
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2007
|
81 |
5 |
p. 913-926
14 p.
|
artikel
|
| 10 |
Fine Mapping versus Replication in Whole-Genome Association Studies
|
Clarke, Geraldine M.
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2007
|
81 |
5 |
p. 995-1005
11 p.
|
artikel
|
| 11 |
Genome Partitioning of Genetic Variation for Height from 11,214 Sibling Pairs
|
Visscher, Peter M.
|
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2007
|
81 |
5 |
p. 1104-1110
7 p.
|
artikel
|
| 12 |
Haplotype-Based Association Analysis via Variance-Components Score Test
|
Tzeng, Jung-Ying
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2007
|
81 |
5 |
p. 927-938
12 p.
|
artikel
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| 13 |
Information-Theoretic Metrics for Visualizing Gene-Environment Interactions
|
Chanda, Pritam
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2007
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81 |
5 |
p. 939-963
25 p.
|
artikel
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| 14 |
Loss-of-Function Mutations in Growth Differentiation Factor-1 (GDF1) Are Associated with Congenital Heart Defects in Humans
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Karkera, J.D.
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2007
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81 |
5 |
p. 987-994
8 p.
|
artikel
|
| 15 |
Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development
|
Simpson, M.A.
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2007
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81 |
5 |
p. 906-912
7 p.
|
artikel
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| 16 |
Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy
|
Chakarova, Christina F.
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2007
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81 |
5 |
p. 1098-1103
6 p.
|
artikel
|
| 17 |
Neurologic, Gastric, and Opthalmologic Pathologies in a Murine Model of Mucolipidosis Type IV
|
Venugopal, Bhuvarahamurthy
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2007
|
81 |
5 |
p. 1070-1083
14 p.
|
artikel
|
| 18 |
Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations
|
Derenko, Miroslava
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2007
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81 |
5 |
p. 1025-1041
17 p.
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artikel
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| 19 |
Predicted Effects of Missense Mutations on Native-State Stability Account for Phenotypic Outcome in Phenylketonuria, a Paradigm of Misfolding Diseases
|
Pey, Angel L.
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2007
|
81 |
5 |
p. 1006-1024
19 p.
|
artikel
|
| 20 |
Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering
|
Browning, Sharon R.
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2007
|
81 |
5 |
p. 1084-1097
14 p.
|
artikel
|
| 21 |
Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy
|
Mefford, Heather C.
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2007
|
81 |
5 |
p. 1057-1069
13 p.
|
artikel
|
| 22 |
Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia
|
Casal, Margret L.
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2007
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81 |
5 |
p. 1050-1056
7 p.
|
artikel
|
| 23 |
Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy
|
Lemmers, Richard J.L.F.
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2007
|
81 |
5 |
p. 884-894
11 p.
|
artikel
|
| 24 |
The First Genomewide Interaction and Locus-Heterogeneity Linkage Scan in Bipolar Affective Disorder: Strong Evidence of Epistatic Effects between Loci on Chromosomes 2q and 6q
|
Abou Jamra, Rami
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2007
|
81 |
5 |
p. 974-986
13 p.
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artikel
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| 25 |
This Month in the Journal
|
Williamson, Robin E.
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2007
|
81 |
5 |
p. i-ii
nvt p.
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artikel
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