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                             46 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A Breast Cancer Patient of Scottish Descent with Germ-Line Mutations in BRCA1 and BRCA2 Liede, Alexander
1998
62 6 p. 1543-1544
2 p.
artikel
2 A Global Haplotype Analysis of the Myotonic Dystrophy Locus: Implications for the Evolution of Modern Humans and for the Origin of Myotonic Dystrophy Mutations Tishkoff, S.A.
1998
62 6 p. 1389-1402
14 p.
artikel
3 A Major Locus for Autosomal Recessive Retinitis Pigmentosa on 6q, Determined by Homozygosity Mapping of Chromosomal Regions That Contain Gamma-Aminobutyric Acid–Receptor Clusters Ruiz, Agustín
1998
62 6 p. 1452-1459
8 p.
artikel
4 Amerindian Pyruvate Carboxylase Deficiency Is Associated with Two Distinct Missense Mutations Carbone, Mary Anna
1998
62 6 p. 1312-1319
8 p.
artikel
5 A Model for Antagonistic Pleiotropic Gene Action for Mortality and Advanced Age Toupance, Bruno
1998
62 6 p. 1525-1534
10 p.
artikel
6 An Alternative Route for Multistep Tumorigenesis in a Novel Case of Hereditary Renal Cell Cancer and a t(2;3)(q35;q21) Chromosome Translocation Bodmer, Daniëlle
1998
62 6 p. 1475-1483
9 p.
artikel
7 Announcements 1 1 Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please send announcement text by E-mail to ajhg@u.washington.edu or by fax to (206) 685-9684. Please limit announcements to 150 words, excluding the address for correspondence, and indicate the name of the sponsoring ASHG member. Announcements will be posted on the electronic edition of the Journal within a week of receipt. For the print edition, submissions must be received 5 weeks before the month of the issue in which publication is requested. 1998
62 6 p. 1563-1564
2 p.
artikel
8 A Triplet Repeat on 17q Accounts for Most Expansions Detected by the Repeat-Expansion–Detection Technique Sidransky, Ellen
1998
62 6 p. 1548-1551
4 p.
artikel
9 Author Index for Volume 62 1998
62 6 p. 1565-1574
10 p.
artikel
10 Classification of Familial Adenomatous Polyposis: A Diagnostic Nightmare Lynch, Henry T.
1998
62 6 p. 1288-1289
2 p.
artikel
11 Cytosine Methylation and the Unequal Developmental Potentials of the Oocyte and Sperm Genomes Bestor, Timothy H.
1998
62 6 p. 1269-1273
5 p.
artikel
12 Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes Stephens, J. Claiborne
1998
62 6 p. 1507-1515
9 p.
artikel
13 Difficulties in the Estimation of Ethnic Affiliation Brenner, Charles H.
1998
62 6 p. 1558-1560
3 p.
artikel
14 Discriminating between True and False-Positive Peaks in a Genomewide Linkage Scan, by Use of the Peak Length Knapp, Michael
1998
62 6 p. 1561-1562
2 p.
artikel
15 Evidence for Autosomal Dominant Inheritance of Prostate Cancer Schaid, Daniel J.
1998
62 6 p. 1425-1438
14 p.
artikel
16 Evidence of Founder Mutations in Finnish BRCA1 and BRCA2 Families Huusko, Pia
1998
62 6 p. 1544-1548
5 p.
artikel
17 Familial Skewed X Inactivation and X-Linked Mutations: Unbalanced X Inactivation is a Powerful Means to Ascertain X-Linked Genes That Affect Cell Proliferation Migeon, Barbara R.
1998
62 6 p. 1555-1557
3 p.
artikel
18 Genetic Analysis of Meiotic Recombination in Humans by Use of Sperm Typing: Reduced Recombination within a Heterozygous Paracentric Inversion of Chromosome 9q32-q34.3 Brown, Graeme M.
1998
62 6 p. 1484-1492
9 p.
artikel
19 Genetic Causes of Female Infertility: Targeted Mutagenesis in Mice Greenhouse, Stephen
1998
62 6 p. 1282-1287
6 p.
artikel
20 Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations Paznekas, William A.
1998
62 6 p. 1370-1380
11 p.
artikel
21 Genetic Mapping of Ossification of the Posterior Longitudinal Ligament of the Spine Koga, Hiroaki
1998
62 6 p. 1460-1467
8 p.
artikel
22 Genotype-Phenotype Correlations in Attenuated Adenomatous Polyposis Coli Soravia, Claudio
1998
62 6 p. 1290-1301
12 p.
artikel
23 Haplotype and Phenotype Analysis of Nine Recurrent BRCA2 Mutations in 111 Families: Results of an International Study Neuhausen, Susan L.
1998
62 6 p. 1381-1388
8 p.
artikel
24 Haplotype Mapping of a Major Quantitative-Trait Locus for Fetal Hemoglobin Production, on Chromosome 6q23 Garner, C.
1998
62 6 p. 1468-1474
7 p.
artikel
25 Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the PCBD Gene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transcriptional Coactivator (DCoH) Thöny, Beat
1998
62 6 p. 1302-1311
10 p.
artikel
26 Identification of a New Locus for a Peculiar Form of Congenital Muscular Dystrophy with Early Rigidity of the Spine, on Chromosome 1p35-36 Moghadaszadeh, Behzad
1998
62 6 p. 1439-1445
7 p.
artikel
27 Identification of Cryptic Rearrangements in Patients with 18q− Deletion Syndrome Brkanac, Zoran
1998
62 6 p. 1500-1506
7 p.
artikel
28 Linkage of Familial Hibernian Fever to Chromosome 12p13 McDermott, Michael F.
1998
62 6 p. 1446-1451
6 p.
artikel
29 Male Infertility and the Genetics of Spermatogenesis Okabe, Masaru
1998
62 6 p. 1274-1281
8 p.
artikel
30 Missense Mutations in Disease Genes: A Bayesian Approach to Evaluate Causality Petersen, Gloria M.
1998
62 6 p. 1516-1524
9 p.
artikel
31 Mutation Analysis of UBE3A in Angelman Syndrome Patients Malzac, Perrine
1998
62 6 p. 1353-1360
8 p.
artikel
32 Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat Brinkmann, Bernd
1998
62 6 p. 1408-1415
8 p.
artikel
33 Novel Molecular Variants of the Na-K-2Cl Cotransporter Gene Are Responsible for Antenatal Bartter Syndrome Vargas-Poussou, Rosa
1998
62 6 p. 1332-1340
9 p.
artikel
34 Parental Origin–Dependent, Male Offspring–Specific Transmission-Ratio Distortion at Loci on the Human X Chromosome Naumova, A.K.
1998
62 6 p. 1493-1499
7 p.
artikel
35 Paternal Isodisomy of Chromosome 7 Associated with Complete Situs Inversus and Immotile Cilia Pan, Yanzhen
1998
62 6 p. 1551-1555
5 p.
artikel
36 Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation Jaeken, Jaak
1998
62 6 p. 1535-1539
5 p.
artikel
37 Predisposing Gene for Early-Onset Prostate Cancer, Localized on Chromosome 1q42.2-43 Berthon, Philippe
1998
62 6 p. 1416-1424
9 p.
artikel
38 Reply to Brenner Shriver, Mark D.
1998
62 6 p. 1560-1561
2 p.
artikel
39 Reply to Migeon and Haisley-Royster Hoffman, Eric
1998
62 6 p. 1557-1558
2 p.
artikel
40 Spectrum and Frequency of Jagged1 (JAG1) Mutations in Alagille Syndrome Patients and Their Families Krantz, Ian D.
1998
62 6 p. 1361-1369
9 p.
artikel
41 Subject Index for Volume 62 1998
62 6 p. 1575-1583
9 p.
artikel
42 Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria Rüfenacht, U.B.
1998
62 6 p. 1341-1352
12 p.
artikel
43 Temperature-Sensitive Phenotypes of Peroxisome-Assembly Processes Represent the Milder Forms of Human Peroxisome-Biogenesis Disorders Imamura, Atsushi
1998
62 6 p. 1539-1543
5 p.
artikel
44 The Hemochromatosis 845 G→A and 187 C→G Mutations: Prevalence in Non-Caucasian Populations Cullen, Lara M.
1998
62 6 p. 1403-1407
5 p.
artikel
45 This Month in the Journal Ashkenas, John
1998
62 6 p. i-ii
nvt p.
artikel
46 X-Linked Chronic Granulomatous Disease: Mutations in the CYBB Gene Encoding the gp91-phox Component of Respiratory-Burst Oxidase Rae, Julie
1998
62 6 p. 1320-1331
12 p.
artikel
                             46 gevonden resultaten
 
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