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                             35 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Accumulation of Mitochondrial DNA Mutations in Human Immunodeficiency Virus–Infected Patients Treated with Nucleoside-Analogue Reverse-Transcriptase Inhibitors Martin, Annalise M.
2003
72 3 p. 549-560
12 p.
artikel
2 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 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. 2003
72 3 p. 775-778
4 p.
artikel
3 A Novel NOD2/CARD15 Haplotype Conferring Risk for Crohn Disease in Ashkenazi Jews Sugimura, Kazuhito
2003
72 3 p. 509-518
10 p.
artikel
4 A Tobit Variance-Component Method for Linkage Analysis of Censored Trait Data Epstein, Michael P.
2003
72 3 p. 611-620
10 p.
artikel
5 Confirmation of Linkage of Prostate Cancer Aggressiveness with Chromosome 19q Slager, S.L.
2003
72 3 p. 759-762
4 p.
artikel
6 Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect Buiting, Karin
2003
72 3 p. 571-577
7 p.
artikel
7 Erratum 2003
72 3 p. 779-
1 p.
artikel
8 Erratum 2003
72 3 p. 779-
1 p.
artikel
9 Erratum 2003
72 3 p. 780-
1 p.
artikel
10 Extensive Linkage Disequilibrium, a Common 16.7-Kilobase Deletion, and Evidence of Balancing Selection in the Human Protocadherin α Cluster Noonan, James P.
2003
72 3 p. 621-635
15 p.
artikel
11 Failure to Find DUP25 in Patients with Anxiety Disorders, in Control Individuals, or in Previously Reported Positive Control Cell Lines Tabiner, Melody
2003
72 3 p. 535-538
4 p.
artikel
12 Fine Mapping of Autistic Disorder to Chromosome 15q11-q13 by Use of Phenotypic Subtypes Shao, Yujun
2003
72 3 p. 539-548
10 p.
artikel
13 Genes and Mechanisms in Vertebrate Sex Determination, The Genetics and Biology of Sex Determination. Opitz, John M.
2003
72 3 p. 773-774
2 p.
artikel
14 HLA-DR2 Dose Effect on Susceptibility to Multiple Sclerosis and Influence on Disease Course Barcellos, L.F.
2003
72 3 p. 710-716
7 p.
artikel
15 Human Population Genetic Structure and Inference of Group Membership Bamshad, Michael J.
2003
72 3 p. 578-589
12 p.
artikel
16 Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2 Badano, José L.
2003
72 3 p. 650-658
9 p.
artikel
17 Improving the Prediction of Complex Diseases by Testing for Multiple Disease-Susceptibility Genes Yang, Quanhe
2003
72 3 p. 636-649
14 p.
artikel
18 Informative Missingness in Genetic Association Studies: Case-Parent Designs Allen, Andrew S.
2003
72 3 p. 671-680
10 p.
artikel
19 Large Differences between LINE-1 Amplification Rates in the Human and Chimpanzee Lineages Mathews, Lauren M.
2003
72 3 p. 739-748
10 p.
artikel
20 Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2 Zollino, Marcella
2003
72 3 p. 590-597
8 p.
artikel
21 Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes Sung, Sandy S.
2003
72 3 p. 681-690
10 p.
artikel
22 Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease Li, Airong
2003
72 3 p. 691-703
13 p.
artikel
23 Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy Verhoeven, Kristien
2003
72 3 p. 722-727
6 p.
artikel
24 Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome Ruiz-Perez, Victor L.
2003
72 3 p. 728-732
5 p.
artikel
25 Overgrowth Syndromes. Olney, Ann Haskins
2003
72 3 p. 772-773
2 p.
artikel
26 Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease Tayebi, Nahid
2003
72 3 p. 519-534
16 p.
artikel
27 SCA8 Repeat Expansion: Large CTA/CTG Repeat Alleles Are More Common in Ataxic Patients, Including Those with SCA6 Izumi, Yuishin
2003
72 3 p. 704-709
6 p.
artikel
28 Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 (LRP5) Gene in Different Conditions with an Increased Bone Density Van Wesenbeeck, Liesbeth
2003
72 3 p. 763-771
9 p.
artikel
29 The Constitutional t(17;22): Another Translocation Mediated by Palindromic AT-Rich Repeats Kurahashi, Hiroki
2003
72 3 p. 733-738
6 p.
artikel
30 The Genetic Legacy of the Mongols Zerjal, Tatiana
2003
72 3 p. 717-721
5 p.
artikel
31 The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates Howell, Neil
2003
72 3 p. 659-670
12 p.
artikel
32 This Month in the Journal Garber, Kathryn
2003
72 3 p. i-ii
nvt p.
artikel
33 Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia Cuajungco, Math P.
2003
72 3 p. 749-758
10 p.
artikel
34 Undetected Genotyping Errors Cause Apparent Overtransmission of Common Alleles in the Transmission/Disequilibrium Test Mitchell, Adele A.
2003
72 3 p. 598-610
13 p.
artikel
35 Use of Multivariate Linkage Analysis for Dissection of a Complex Cognitive Trait Marlow, Angela J.
2003
72 3 p. 561-570
10 p.
artikel
                             35 gevonden resultaten
 
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