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                             52 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Absence of Significant Linkage between Phonological Coding Dyslexia and Chromosome 6p23-21.3, as Determined by Use of Quantitative-Trait Methods: Confirmation of Qualitative Analyses Petryshen, Tracey L.
2000
66 2 p. 708-714
7 p.
artikel
2 A Coalescent Approach to Study Linkage Disequilibrium between Single-Nucleotide Polymorphisms Zöllner, Sebastian
2000
66 2 p. 615-628
14 p.
artikel
3 Age Estimate of the N370S Mutation Causing Gaucher Disease in Ashkenazi Jews and European Populations: A Reappraisal of Haplotype Data Colombo, Roberto
2000
66 2 p. 692-697
6 p.
artikel
4 A Locus for Autosomal Dominant “Pure” Hereditary Spastic Paraplegia Maps to Chromosome 19q13 Reid, E.
2000
66 2 p. 728-732
5 p.
artikel
5 A New Locus for Autosomal Dominant Pure Spastic Paraplegia, on Chromosome 2q24-q34 Fontaine, Bertrand
2000
66 2 p. 702-707
6 p.
artikel
6 A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26 Ciccarese, Milco
2000
66 2 p. 453-460
8 p.
artikel
7 A New Locus for Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2 Lopes-Cendes, I.
2000
66 2 p. 698-701
4 p.
artikel
8 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 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. 2000
66 2 p. 749-752
4 p.
artikel
9 Application and Interpretation of Transmission/Disequilibrium Tests: Transmission of HLA-DQ Haplotypes to Unaffected Siblings in 526 Families with Type 1 Diabetes Lie, Benedicte A.
2000
66 2 p. 740-743
4 p.
artikel
10 Assignment of a Form of Congenital Muscular Dystrophy with Secondary Merosin Deficiency to Chromosome 1q42 Brockington, Martin
2000
66 2 p. 428-435
8 p.
artikel
11 A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34 Moynihan, Leanne
2000
66 2 p. 724-727
4 p.
artikel
12 ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility Broeks, Annegien
2000
66 2 p. 494-500
7 p.
artikel
13 A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27 Shashi, Vandana
2000
66 2 p. 469-479
11 p.
artikel
14 Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene Melkoniemi, Miia
2000
66 2 p. 368-377
10 p.
artikel
15 Chromosome 6p Influences on Different Dyslexia-Related Cognitive Processes: Further Confirmation Grigorenko, Elena L.
2000
66 2 p. 715-723
9 p.
artikel
16 Detection of Chromosomal Aberrations by a Whole-Genome Microsatellite Screen Rosenberg, Marjorie J.
2000
66 2 p. 419-427
9 p.
artikel
17 Effects of Stratification in the Analysis of Affected-Sib-Pair Data: Benefits and Costs Leal, Suzanne M.
2000
66 2 p. 567-575
9 p.
artikel
18 Erratum 2000
66 2 p. 753-
1 p.
artikel
19 Erratum 2000
66 2 p. 753-
1 p.
artikel
20 Erratum 2000
66 2 p. 753-
1 p.
artikel
21 Erratum 2000
66 2 p. 753-
1 p.
artikel
22 Estimation of Variance Components of Quantitative Traits in Inbred Populations Abney, Mark
2000
66 2 p. 629-650
22 p.
artikel
23 Evidence for Heterogeneity in Recombination in the Human Pseudoautosomal Region: High Resolution Analysis by Sperm Typing and Radiation-Hybrid Mapping Lien, Sigbjørn
2000
66 2 p. 557-566
10 p.
artikel
24 Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene Vockley, Jerry
2000
66 2 p. 356-367
12 p.
artikel
25 Familial Syndromic Esophageal Atresia Maps to 2p23-p24 Celli, Jacopo
2000
66 2 p. 436-444
9 p.
artikel
26 Family-Based Tests of Association and Linkage That Use Unaffected Sibs, Covariates, and Interactions Lunetta, Kathryn L.
2000
66 2 p. 605-614
10 p.
artikel
27 Fine Localization of a Major Disease-Susceptibility Locus for Diffuse Panbronchiolitis Keicho, Naoto
2000
66 2 p. 501-507
7 p.
artikel
28 Genome Screening in Human Systemic Lupus Erythematosus: Results from a Second Minnesota Cohort and Combined Analyses of 187 Sib-Pair Families Gaffney, Patrick M.
2000
66 2 p. 547-556
10 p.
artikel
29 Haplotype Fine Mapping by Evolutionary Trees Lam, Johnny C.
2000
66 2 p. 659-673
15 p.
artikel
30 Imprinting Effect in Premature Ovarian Failure Confined to Paternally Inherited Fragile X Premutations Hundscheid, Rubin D.L.
2000
66 2 p. 413-418
6 p.
artikel
31 Individual Estimates of European Genetic Admixture Associated with Lower Body-Mass Index, Plasma Glucose, and Prevalence of Type 2 Diabetes in Pima Indians Williams, Robert C.
2000
66 2 p. 527-538
12 p.
artikel
32 Letter to Human Genetics Journals Ayme, Segolene
2000
66 2 p. 747-748
2 p.
artikel
33 Linkage Analyses at the Chromosome 1 Loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in Families with Hereditary Prostate Cancer Berry, Rebecca
2000
66 2 p. 539-546
8 p.
artikel
34 Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-Like Disorder to 4p15.3 Kambouris, M.
2000
66 2 p. 445-452
8 p.
artikel
35 Methionine Adenosyltransferase I/III Deficiency: Novel Mutationsand Clinical Variations Chamberlin, Margaret E.
2000
66 2 p. 347-355
9 p.
artikel
36 Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome Witsch-Baumgartner, M.
2000
66 2 p. 402-412
11 p.
artikel
37 Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis–Ectodermal Dystrophy Protein Björses, Petra
2000
66 2 p. 378-392
15 p.
artikel
38 New Estimates of Intergenerational Time Intervals for the Calculation of Age and Origins of Mutations Tremblay, Marc
2000
66 2 p. 651-658
8 p.
artikel
39 Removing the Sampling Restrictions from Family-Based Tests of Association for a Quantitative-Trait Locus Monks, S.A.
2000
66 2 p. 576-592
17 p.
artikel
40 Reply to Donnelly van der Put, Nathalie M.J.
2000
66 2 p. 744-745
2 p.
artikel
41 Reproducibility and Complications in Gene Searches: Linkage on Chromosome 6, Heterogeneity, Association, and Maternal Inheritance in Juvenile Myoclonic Epilepsy Greenberg, David A.
2000
66 2 p. 508-516
9 p.
artikel
42 Special Oversight Groups to Add Protections for Population-Based Repository Samples Greenberg, Judith H.
2000
66 2 p. 745-747
3 p.
artikel
43 Survey of the Fragile X Syndrome CGG Repeat and the Short-Tandem-Repeat and Single-Nucleotide-Polymorphism Haplotypes in an African American Population Crawford, Dana C.
2000
66 2 p. 480-493
14 p.
artikel
44 The 1298(A→C) Mutation of Methylenetetrahydrofolate Reductase Should Be Designated to the 1289 Position of the Gene Donnelly, James G.
2000
66 2 p. 744-
1 p.
artikel
45 The Relationship between the Sibling Recurrence-Risk Ratio and Genotype Relative Risk Rybicki, Benjamin A.
2000
66 2 p. 593-604
12 p.
artikel
46 The X Chromosome Frequently Lags Behind in Female Lymphocyte Anaphase Catalán, Julia
2000
66 2 p. 687-691
5 p.
artikel
47 This Month in the Journal Beauregard, Kathryn
2000
66 2 p. i-ii
nvt p.
artikel
48 Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1 Eisenbarth, Ingrid
2000
66 2 p. 393-401
9 p.
artikel
49 Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22qtel Topçu, Meral
2000
66 2 p. 733-739
7 p.
artikel
50 Variation in the Interleukin 4–Receptor α Gene Confers Susceptibility to Asthma and Atopy in Ethnically Diverse Populations Ober, Carole
2000
66 2 p. 517-526
10 p.
artikel
51 X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3 Bennett, Craig L.
2000
66 2 p. 461-468
8 p.
artikel
52 Y Chromosomes Traveling South: The Cohen Modal Haplotype and the Origins of the Lemba—the “Black Jews of Southern Africa” Thomas, Mark G.
2000
66 2 p. 674-686
13 p.
artikel
                             52 gevonden resultaten
 
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