| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Accounting for Linkage in Family-Based Tests of Association with Missing Parental Genotypes
|
Martin, Eden R.
|
|
2003
|
73 |
5 |
p. 1016-1026
11 p.
|
artikel
|
| 2 |
A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype Data
|
Stephens, Matthew
|
|
2003
|
73 |
5 |
p. 1162-1169
8 p.
|
artikel
|
| 3 |
A Major Susceptibility Locus on Chromosome 22q12 Plays a Critical Role in the Control of Kala-Azar
|
Bucheton, Bruno
|
|
2003
|
73 |
5 |
p. 1052-1060
9 p.
|
artikel
|
| 4 |
Announcements 1 1. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 301, Atlanta, GA 30322-3050; fax them to (404) 712-9984; or send via E-mail to ajhg@emory.edu. Submission must be receivedat 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.
|
|
|
2003
|
73 |
5 |
p. 1214-1216
3 p.
|
artikel
|
| 5 |
David M. Danks, M.D., A.O. (June 4, 1931–July 8, 2003):Founder, Murdoch Childrens Research Institute
|
Choo, K. H. Andy
|
|
2003
|
73 |
5 |
p. 981-985
5 p.
|
artikel
|
| 6 |
eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs
|
van der Knaap, Marjo S.
|
|
2003
|
73 |
5 |
p. 1199-1207
9 p.
|
artikel
|
| 7 |
Genomewide Distribution of High-Frequency, Completely Mismatching SNP Haplotype Pairs Observed To Be Common across Human Populations
|
Zhang, Jinghui
|
|
2003
|
73 |
5 |
p. 1073-1081
9 p.
|
artikel
|
| 8 |
Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in Adults
|
Zhou, Xiao-Ping
|
|
2003
|
73 |
5 |
p. 1191-1198
8 p.
|
artikel
|
| 9 |
Haplotypes in the Dystrophin DNA Segment Point to a Mosaic Origin of Modern Human Diversity
|
Ziętkiewicz, Ewa
|
|
2003
|
73 |
5 |
p. 994-1015
22 p.
|
artikel
|
| 10 |
Localization of a Gene for Migraine without Aura to Chromosome 4q21
|
Björnsson, Ásgeir
|
|
2003
|
73 |
5 |
p. 986-993
8 p.
|
artikel
|
| 11 |
Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia
|
Simpson, Michael A.
|
|
2003
|
73 |
5 |
p. 1147-1156
10 p.
|
artikel
|
| 12 |
Meta-Analysis and a Large Association Study Confirm a Role for Calpain-10 Variation in Type 2 Diabetes Susceptibility
|
Weedon, Michael N.
|
|
2003
|
73 |
5 |
p. 1208-1212
5 p.
|
artikel
|
| 13 |
Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients
|
Ensenauer, Regina E.
|
|
2003
|
73 |
5 |
p. 1027-1040
14 p.
|
artikel
|
| 14 |
Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers
|
Gorlov, Ivan P.
|
|
2003
|
73 |
5 |
p. 1157-1161
5 p.
|
artikel
|
| 15 |
Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of Complexity
|
Roberts, S.E.
|
|
2003
|
73 |
5 |
p. 1061-1072
12 p.
|
artikel
|
| 16 |
Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
|
Senderek, Jan
|
|
2003
|
73 |
5 |
p. 1106-1119
14 p.
|
artikel
|
| 17 |
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation
|
Burdon, Kathryn P.
|
|
2003
|
73 |
5 |
p. 1120-1130
11 p.
|
artikel
|
| 18 |
Mutations in the γ-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26)
|
Zhu, M.
|
|
2003
|
73 |
5 |
p. 1082-1091
10 p.
|
artikel
|
| 19 |
Ordered-Subsets Linkage Analysis Detects Novel Alzheimer Disease Loci on Chromosomes 2q34 and 15q22
|
Scott, William K.
|
|
2003
|
73 |
5 |
p. 1041-1051
11 p.
|
artikel
|
| 20 |
Origin and Diffusion of mtDNA Haplogroup X
|
Reidla, Maere
|
|
2003
|
73 |
5 |
p. 1178-1190
13 p.
|
artikel
|
| 21 |
Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size
|
Bond, Jacquelyn
|
|
2003
|
73 |
5 |
p. 1170-1177
8 p.
|
artikel
|
| 22 |
Replication Inhibitors Modulate Instability of an Expanded Trinucleotide Repeat at the Myotonic Dystrophy Type 1 Disease Locus in Human Cells
|
Yang, Zhi
|
|
2003
|
73 |
5 |
p. 1092-1105
14 p.
|
artikel
|
| 23 |
RP2 and RPGR Mutations and Clinical Correlations in Patients with X-Linked Retinitis Pigmentosa
|
Sharon, Dror
|
|
2003
|
73 |
5 |
p. 1131-1146
16 p.
|
artikel
|
| 24 |
Sequence Analysis in a Nutshell: A Guide to Common Tools and Databases
|
Worley, Kim
|
|
2003
|
73 |
5 |
p. 1213-
1 p.
|
artikel
|
| 25 |
This Month in the Journal
|
Garber, Kathryn
|
|
2003
|
73 |
5 |
p. i-ii
nvt p.
|
artikel
|
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