Digitale Bibliotheek
Sluiten Bladeren door artikelen uit een tijdschrift
 
Zoeken naar met titel:
ABCDEFGHIJKLMNOPQRSTUVWXYZ

     Tijdschrift beschrijving
       Alle jaargangen van het bijbehorende tijdschrift
         Alle afleveringen van het bijbehorende jaargang
                                       Alle artikelen van de bijbehorende aflevering
 
                             38 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27 Auranen, Mari
 2002
 71 4 p. 777-790
14 p.
 artikel
2 A New Essential Hypertension Susceptibility Locus on Chromosome 2p24-p25, Detected by Genomewide Search Angius, Andrea
 2002
 71 4 p. 893-905
13 p.
 artikel
3 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. 2002
 71 4 p. 1002-1006
5 p.
 artikel
4 A Novel Founder Mutation in the RNASEL Gene, 471delAAAG, Is Associated with Prostate Cancer in Ashkenazi Jews Rennert, Hanna
 2002
 71 4 p. 981-984
4 p.
 artikel
5 A Rare Haplotype of the RET Proto-Oncogene Is a Risk-Modifying Allele in Hirschsprung Disease Griseri, Paola
 2002
 71 4 p. 969-974
6 p.
 artikel
6 Association between a High-Expressing Interferon-γ Allele and a Lower Frequency of Kidney Angiomyolipomas in TSC2 Patients Dabora, Sandra L.
 2002
 71 4 p. 750-758
9 p.
 artikel
7 Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH Williams, Charlene J.
 2002
 71 4 p. 985-991
7 p.
 artikel
8 Caution on Pedigree Haplotype Inference with Software That Assumes Linkage Equilibrium Schaid, Daniel J.
 2002
 71 4 p. 992-995
4 p.
 artikel
9 Determining the One, Two, Three, or Four Long and Short Loci of Human Complement C4 in a Major Histocompatibility Complex Haplotype Encoding C4A or C4B Proteins Chung, Erwin K.
 2002
 71 4 p. 810-822
13 p.
 artikel
10 Elevated Minisatellite Mutation Rate in the Post-Chernobyl Families from Ukraine Dubrova, Yuri E.
 2002
 71 4 p. 801-809
9 p.
 artikel
11 Erratum 2002
 71 4 p. 1007-
1 p.
 artikel
12 Erratum 2002
 71 4 p. 1007-
1 p.
 artikel
13 Erratum 2002
 71 4 p. 1007-
1 p.
 artikel
14 Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12 Ehtesham, Nadia
 2002
 71 4 p. 947-951
5 p.
 artikel
15 Functional Analysis of RUNX2 Mutations in Japanese Patients with Cleidocranial Dysplasia Demonstrates Novel Genotype-Phenotype Correlations Yoshida, Taketoshi
 2002
 71 4 p. 724-738
15 p.
 artikel
16 Gene Expression Phenotype in Heterozygous Carriers of Ataxia Telangiectasia Watts, Jason A.
 2002
 71 4 p. 791-800
10 p.
 artikel
17 Genetic Linkage of Attention-Deficit/Hyperactivity Disorder on Chromosome 16p13, in a Region Implicated in Autism Smalley, Susan L.
 2002
 71 4 p. 959-963
5 p.
 artikel
18 Genetic Sophistication of Human Complement Components C4A and C4B and RP-C4-CYP21-TNX (RCCX) Modules in the Major Histocompatibility Complex Chung, Erwin K.
 2002
 71 4 p. 823-837
15 p.
 artikel
19 Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females Inoue, Ken
 2002
 71 4 p. 838-853
16 p.
 artikel
20 GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L Visapää, Ilona
 2002
 71 4 p. 863-876
14 p.
 artikel
21 High-Resolution Patterns of Meiotic Recombination across the Human Major Histocompatibility Complex Cullen, Michael
 2002
 71 4 p. 759-776
18 p.
 artikel
22 Histone Modifications Depict an Aberrantly Heterochromatinized FMR1 Gene in Fragile X Syndrome Coffee, Bradford
 2002
 71 4 p. 923-932
10 p.
 artikel
23 Human Diallelic Insertion/Deletion Polymorphisms Weber, James L.
 2002
 71 4 p. 854-862
9 p.
 artikel
24 Increased Rate of Twins among Affected Sib Pairs Visscher, Peter M.
 2002
 71 4 p. 995-996
2 p.
 artikel
25 Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase Brunetti-Pierri, Nicola
 2002
 71 4 p. 952-958
7 p.
 artikel
26 Mutations in ANKH Cause Chondrocalcinosis Pendleton, Adrian
 2002
 71 4 p. 933-940
8 p.
 artikel
27 Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies Ferreiro, Ana
 2002
 71 4 p. 739-749
11 p.
 artikel
28 Neocentromeres: Role in Human Disease, Evolution, and Centromere Study Amor, David J.
 2002
 71 4 p. 695-714
20 p.
 artikel
29 Neuregulin 1 and Susceptibility to Schizophrenia Stefansson, Hreinn
 2002
 71 4 p. 877-892
16 p.
 artikel
30 On the Twin Risk in Autism Hallmayer, Joachim
 2002
 71 4 p. 941-946
6 p.
 artikel
31 Predictors of the Risk of Mortality in Neurofibromatosis 2 Baser, Michael E.
 2002
 71 4 p. 715-723
9 p.
 artikel
32 Quantitative Trait Loci: Methods and Protocols Barnholtz-Sloan, Jill
 2002
 71 4 p. 1000-
1 p.
 artikel
33 Recombination between Palindromes P5 and P1 on the Human Y Chromosome Causes Massive Deletions and Spermatogenic Failure Repping, Sjoerd
 2002
 71 4 p. 906-922
17 p.
 artikel
34 Response to Visscher Hodge, Susan E.
 2002
 71 4 p. 996-999
4 p.
 artikel
35 SPINK1 Is a Susceptibility Gene for Fibrocalculous Pancreatic Diabetes in Subjects from the Indian Subcontinent Hassan, Zahid
 2002
 71 4 p. 964-968
5 p.
 artikel
36 The Gene for Juvenile Hyaline Fibromatosis Maps to Chromosome 4q21 Rahman, Nazneen
 2002
 71 4 p. 975-980
6 p.
 artikel
37 This Month in the Journal Beauregard, Kathryn
 2002
 71 4 p. i-ii
nvt p.
 artikel
38 What it Means to Be 98% Chimpanzee: Apes, People, and Their Genes Madrigal, Lorena
 2002
 71 4 p. 1000-1001
2 p.
 artikel
                             38 gevonden resultaten
 
 Koninklijke Bibliotheek - Nationale Bibliotheek van Nederland