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                             34 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Analysis of GNAS1 and Overlapping Transcripts Identifies the Parental Origin of Mutations in Patients with Sporadic Albright Hereditary Osteodystrophy and Reveals a Model System in Which to Observe the Effects of Splicing Mutations on Translated and Untranslated Messenger RNA Rickard, Sarah J.
 2003
 72 4 p. 961-974
14 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 4 p. 1074-1077
4 p.
 artikel
3 ATLAS: A System to Selectively Identify Human-Specific L1 Insertions Badge, Richard M.
 2003
 72 4 p. 823-838
16 p.
 artikel
4 Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene Waterham, Hans R.
 2003
 72 4 p. 1013-1017
5 p.
 artikel
5 Combined Analysis of Genome Scans of Dutch and Finnish Families Reveals a Susceptibility Locus for High-Density Lipoprotein Cholesterol on Chromosome 16q Pajukanta, Päivi
 2003
 72 4 p. 903-917
15 p.
 artikel
6 Conditional JAG1 Mutation Shows the Developing Heart Is More Sensitive Than Developing Liver to JAG1 Dosage Lu, Fengmin
 2003
 72 4 p. 1065-1070
6 p.
 artikel
7 Deletion of the Telomerase Reverse Transcriptase Gene and Haploinsufficiency of Telomere Maintenance in Cri du Chat Syndrome Zhang, Anju
 2003
 72 4 p. 940-948
9 p.
 artikel
8 Erratum 2003
 72 4 p. 1078-
1 p.
 artikel
9 Estimation and Testing of Parent-of-Origin Effects for Quantitative Traits Whittaker, John C.
 2003
 72 4 p. 1035-1039
5 p.
 artikel
10 Evidence for a Gene Influencing Serum Bilirubin on Chromosome 2q Telomere: A Genomewide Scan in the Framingham Study Lin, Jing-Ping
 2003
 72 4 p. 1029-1034
6 p.
 artikel
11 Extensive Female-Mediated Gene Flow from Sub-Saharan Africa into Near Eastern Arab Populations Richards, Martin
 2003
 72 4 p. 1058-1064
7 p.
 artikel
12 Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates Jacquemont, Sébastien
 2003
 72 4 p. 869-878
10 p.
 artikel
13 Genetic Evidence for Interaction of the 5q31 Cytokine Locus and the CARD15 Gene in Crohn Disease Mirza, Muddassar M.
 2003
 72 4 p. 1018-1022
5 p.
 artikel
14 Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene Markova, Dessislava
 2003
 72 4 p. 998-1004
7 p.
 artikel
15 Genetic Linkage Analysis of a Dichotomous Trait Incorporating a Tightly Linked Quantitative Trait in Affected Sib Pairs Huang, Jian
 2003
 72 4 p. 949-960
12 p.
 artikel
16 Genome Association Studies of Complex Diseases by Case-Control Designs Fan, Ruzong
 2003
 72 4 p. 850-868
19 p.
 artikel
17 Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection Risch, Neil
 2003
 72 4 p. 812-822
11 p.
 artikel
18 Germline p53 Mutations in a Cohort with Childhood Sarcoma: Sex Differences in Cancer Risk Hwang, Shih-Jen
 2003
 72 4 p. 975-983
9 p.
 artikel
19 Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips Hellemans, Jan
 2003
 72 4 p. 1040-1046
7 p.
 artikel
20 Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative-Trait Loci That Influence Variation in the Human Personality Trait Neuroticism Fullerton, Jan
 2003
 72 4 p. 879-890
12 p.
 artikel
21 Lodewijk A. Sandkuijl, M.D. (July 31, 1953–December 4, 2002) Freimer, Nelson B.
 2003
 72 4 p. 781-784
4 p.
 artikel
22 Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects Robinson, Susan W.
 2003
 72 4 p. 1047-1052
6 p.
 artikel
23 Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E Johnson, David
 2003
 72 4 p. 984-997
14 p.
 artikel
24 Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia Chen, Dong-Hui
 2003
 72 4 p. 839-849
11 p.
 artikel
25 Mitochondrial DNA Haplogroups Do Not Play a Role in the Variable Phenotypic Presentation of the A3243G Mutation Torroni, Antonio
 2003
 72 4 p. 1005-1012
8 p.
 artikel
26 Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease van der Walt, Joelle M.
 2003
 72 4 p. 804-811
8 p.
 artikel
27 On the Identification of Disease Mutations by the Analysis of Haplotype Similarity and Goodness of Fit Tzeng, Jung-Ying
 2003
 72 4 p. 891-902
12 p.
 artikel
28 Rapid Direct Sequence Analysis of the Dystrophin Gene Flanigan, Kevin M.
 2003
 72 4 p. 931-939
9 p.
 artikel
29 Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3 Cardoso, Carlos
 2003
 72 4 p. 918-930
13 p.
 artikel
30 Resolving ATM Haplotypes in Whites Letrero, Richard
 2003
 72 4 p. 1071-1073
3 p.
 artikel
31 Significant Linkage of Parkinson Disease to Chromosome 2q36-37 Pankratz, Nathan
 2003
 72 4 p. 1053-1057
5 p.
 artikel
32 This Month in the Journal Garber, Kathryn
 2003
 72 4 p. i-ii
nvt p.
 artikel
33 Unraveling Monogenic Channelopathies and Their Implications for Complex Polygenic Disease Gargus, J. Jay
 2003
 72 4 p. 785-803
19 p.
 artikel
34 Variants in CHEK2 Other than 1100delC Do Not Make a Major Contribution to Breast Cancer Susceptibility Schutte, Mieke
 2003
 72 4 p. 1023-1028
6 p.
 artikel
                             34 gevonden resultaten
 
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