Digital Library
Close Browse articles from a journal
 
Search for with title:
ABCDEFGHIJKLMNOPQRSTUVWXYZ

     Journal description
       All volumes of the corresponding journal
         All issues of the corresponding volume
                                       All articles of the corresponding issues
 
                             37 results found
no title author magazine year volume issue page(s) type
1 Active Intestinal Chloride Secretion in Human Carriers of Cystic Fibrosis Mutations: An Evaluation of the Hypothesis That Heterozygotes Have Subnormal Active Intestinal Chloride Secretion Högenauer, Christoph
 2000
 67 6 p. 1422-1427
6 p.
 article
2 A Fifth Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 1q31 Pattison, Lisa
 2000
 67 6 p. 1578-1580
3 p.
 article
3 A Genome Scan in Families from Australia and New Zealand Confirms the Presence of a Maternal Susceptibility Locus for Pre-Eclampsia, on Chromosome 2 Moses, Eric K.
 2000
 67 6 p. 1581-1585
5 p.
 article
4 A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15 Morlé, L.
 2000
 67 6 p. 1592-1597
6 p.
 article
5 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, Emory University School of Medicine, 1462 Clifton Road, Room B28, Atlanta, GA 30322-3050; fax them to (404) 712-9984; or send via E-mail toajhg@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. 2000
 67 6 p. 1628-1630
3 p.
 article
6 A Novel Homoplasmic Mutation in mtDNA with a Single Evolutionary Origin as a Risk Factor for Cardiomyopathy Shin, Wee Soo
 2000
 67 6 p. 1617-1620
4 p.
 article
7 A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO) Zonana, Jonathan
 2000
 67 6 p. 1555-1562
8 p.
 article
8 Apparently Normal Ovarian Differentiation in a Prepubertal Girl with Transcriptionally Inactive Steroidogenic Factor 1 (NR5A1/SF-1) and Adrenocortical Insufficiency Biason-Lauber, Anna
 2000
 67 6 p. 1563-1568
6 p.
 article
9 Ascertainment Adjustment: Where Does It Take Us? Burton, Paul R.
 2000
 67 6 p. 1505-1514
10 p.
 article
10 Complex Segregation Analysis Provides Compelling Evidence for a Major Gene Underlying Obsessive-Compulsive Disorder and for Heterogeneity by Sex Nestadt, G.
 2000
 67 6 p. 1611-1616
6 p.
 article
11 Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms Buyse, Inge M.
 2000
 67 6 p. 1428-1436
9 p.
 article
12 Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype Bellus, Gary A.
 2000
 67 6 p. 1411-1421
11 p.
 article
13 Editorial Reviewers for 2000 2000
 67 6 p. i-v
nvt p.
 article
14 Efficiency of Estimation of Haplotype Frequencies: Use of Marker Phenotypes of Unrelated Individuals versus Counting of Phase-Known Gametes McKeigue, Paul M.
 2000
 67 6 p. 1626-1627
2 p.
 article
15 Erratum 2000
 67 6 p. 1631-
1 p.
 article
16 Erratum 2000
 67 6 p. 1631-1633
3 p.
 article
17 Evaluation of the Needs of Male Carriers of Mutations in BRCA1 or BRCA2 Who Have Undergone Genetic Counseling Liede, Alexander
 2000
 67 6 p. 1494-1504
11 p.
 article
18 Family-Based Tests of Association in the Presence of Linkage Lake, Stephen L.
 2000
 67 6 p. 1515-1525
11 p.
 article
19 Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I Astuto, Lisa M.
 2000
 67 6 p. 1569-1574
6 p.
 article
20 Genetics of Prostate Cancer: Too Many Loci, Too Few Genes Ostrander, Elaine A.
 2000
 67 6 p. 1367-1375
9 p.
 article
21 Genetic Susceptibility to Thrombosis and Its Relationship to Physiological Risk Factors: The GAIT Study Souto, Juan Carlos
 2000
 67 6 p. 1452-1459
8 p.
 article
22 Genome Scan of Human Systemic Lupus Erythematosus by Regression Modeling: Evidence of Linkage and Epistasis at 4p16-15.2 Gray-McGuire, C.
 2000
 67 6 p. 1460-1469
10 p.
 article
23 Genomewide Search for Type 2 Diabetes–Susceptibility Genes in French Whites: Evidence for a Novel Susceptibility Locus for Early-Onset Diabetes on Chromosome 3q27-qter and Independent Replication of a Type 2–Diabetes Locus on Chromosome 1q21–q24 Vionnet, Nathalie
 2000
 67 6 p. 1470-1480
11 p.
 article
24 Haplotypes at ATM Identify Coding-Sequence Variation and Indicate a Region of Extensive Linkage Disequilibrium Bonnen, Penelope E.
 2000
 67 6 p. 1437-1451
15 p.
 article
25 Identification of a Locus for Autosomal Dominant Polycystic Liver Disease, on Chromosome 19p13.2-13.1 Reynolds, David M.
 2000
 67 6 p. 1598-1604
7 p.
 article
26 Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene Keightley, J. Andrew
 2000
 67 6 p. 1400-1410
11 p.
 article
27 Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis Klomp, Leo W.J.
 2000
 67 6 p. 1389-1399
11 p.
 article
28 Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome Fang, Jianming
 2000
 67 6 p. 1382-1388
7 p.
 article
29 Parental Attitudes toward Genetic Testing for Pediatric Deafness Brunger, Jeanne Weir
 2000
 67 6 p. 1621-1625
5 p.
 article
30 Partial Paternal Uniparental Disomy of Chromosome 6 in an Infant with Neonatal Diabetes, Macroglossia, and Craniofacial Abnormalities Das, S.
 2000
 67 6 p. 1586-1591
6 p.
 article
31 Primary Autosomal Recessive Microcephaly: MCPH5 Maps to 1q25-q32 Jamieson, C. Ruth
 2000
 67 6 p. 1575-1577
3 p.
 article
32 The Extent of Linkage Disequilibrium in Four Populations with Distinct Demographic Histories Dunning, Alison M.
 2000
 67 6 p. 1544-1554
11 p.
 article
33 The IBD2 Locus Shows Linkage Heterogeneity between Ulcerative Colitis and Crohn Disease Parkes, Miles
 2000
 67 6 p. 1605-1610
6 p.
 article
34 The Peopling of Europe from the Maternal and Paternal Perspectives Lell, Jeffrey T.
 2000
 67 6 p. 1376-1381
6 p.
 article
35 This Month in the Journal Beauregard, Kathryn
 2000
 67 6 p. vii-viii
nvt p.
 article
36 Two Loci on Chromosomes 2 and X for Premature Coronary Heart Disease Identified in Early- and Late-Settlement Populations of Finland Pajukanta, Päivi
 2000
 67 6 p. 1481-1493
13 p.
 article
37 Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language Rosser, Zoë H.
 2000
 67 6 p. 1526-1543
18 p.
 article
                             37 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands