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                             36 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Age at Onset in Two Common Neurodegenerative Diseases Is Genetically Controlled Li, Yi-Ju
 2002
 70 4 p. 985-993
9 p.
 artikel
2 A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28 Villard, Laurent
 2002
 70 4 p. 1003-1008
6 p.
 artikel
3 Alternative Splicing in the α-Galactosidase A Gene: Increased Exon Inclusion Results in the Fabry Cardiac Phenotype Ishii, Satoshi
 2002
 70 4 p. 994-1002
9 p.
 artikel
4 A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome Klauck, Sabine M.
 2002
 70 4 p. 1034-1037
4 p.
 artikel
5 A Mutation in the SOS1 Gene Causes Hereditary Gingival Fibromatosis Type 1 Hart, Thomas C.
 2002
 70 4 p. 943-954
12 p.
 artikel
6 An Autosomal Recessive Form of Bilateral Frontoparietal Polymicrogyria Maps to Chromosome 16q12.2-21 Piao, Xianhua
 2002
 70 4 p. 1028-1033
6 p.
 artikel
7 A New Susceptibility Locus for Autosomal Dominant Pancreatic Cancer Maps to Chromosome 4q32-34 Eberle, Michael A.
 2002
 70 4 p. 1044-1048
5 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, 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 ½ 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
 70 4 p. 1072-1073
2 p.
 artikel
9 A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents Raas-Rothschild, Annick
 2002
 70 4 p. 1062-1068
7 p.
 artikel
10 A Polymorphism in the β1 Adrenergic Receptor Is Associated with Resting Heart Rate Ranade, Koustubh
 2002
 70 4 p. 935-942
8 p.
 artikel
11 Ascertainment-Adjusted Parameter Estimates Revisited Epstein, Michael P.
 2002
 70 4 p. 886-895
10 p.
 artikel
12 CARD15/NOD2 Mutational Analysis and Genotype-Phenotype Correlation in 612 Patients with Inflammatory Bowel Disease Lesage, Suzanne
 2002
 70 4 p. 845-857
13 p.
 artikel
13 Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population Edelmann, Lisa
 2002
 70 4 p. 1023-1027
5 p.
 artikel
14 Distinct BRCA1 Rearrangements Involving the BRCA1 Pseudogene Suggest the Existence of a Recombination Hot Spot Puget, Nadine
 2002
 70 4 p. 858-865
8 p.
 artikel
15 Erratum 2002
 70 4 p. 1074-1075
2 p.
 artikel
16 Erratum 2002
 70 4 p. 1075-
1 p.
 artikel
17 Erratum 2002
 70 4 p. 1075-
1 p.
 artikel
18 Erratum 2002
 70 4 p. 1075-
1 p.
 artikel
19 Erratum 2002
 70 4 p. 1075-
1 p.
 artikel
20 Evolutionary Fate of an Unstable Human Minisatellite Deduced from Sperm-Mutation Spectra of Individual Alleles Buard, Jérôme
 2002
 70 4 p. 1038-1043
6 p.
 artikel
21 Genetic Disease in Offspring of Long-Term Survivors of Childhood and Adolescent Cancer Treated with Potentially Mutagenic Therapies Meistrich, Marvin L.
 2002
 70 4 p. 1069-1071
3 p.
 artikel
22 Genomewide Scan of Hoarding in Sib Pairs in Which Both Sibs Have Gilles de la Tourette Syndrome Zhang, Heping
 2002
 70 4 p. 896-904
9 p.
 artikel
23 Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletion (IVS7–19 to IVS15–17) in a Patient with Glycogen Storage Disease Type II Huie, Maryann L.
 2002
 70 4 p. 1054-1057
4 p.
 artikel
24 Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations (“Glomangiomas”) Brouillard, Pascal
 2002
 70 4 p. 866-874
9 p.
 artikel
25 Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1 Eichers, Erica R.
 2002
 70 4 p. 955-964
10 p.
 artikel
26 Phenotypic Homogeneity Provides Increased Support for Linkage on Chromosome 2 in Autistic Disorder Shao, Yujun
 2002
 70 4 p. 1058-1061
4 p.
 artikel
27 Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition Neitzel, Heidemarie
 2002
 70 4 p. 1015-1022
8 p.
 artikel
28 Protean PTEN: Form and Function Waite, Kristin A.
 2002
 70 4 p. 829-844
16 p.
 artikel
29 Protecting Subjects' Interests in Genetics Research Merz, Jon F.
 2002
 70 4 p. 965-971
7 p.
 artikel
30 Quantitative-Trait Homozygosity and Association Mapping and Empirical Genomewide Significance in Large, Complex Pedigrees: Fasting Serum-Insulin Level in the Hutterites Abney, Mark
 2002
 70 4 p. 920-934
15 p.
 artikel
31 Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome Ohno, Kinji
 2002
 70 4 p. 875-885
11 p.
 artikel
32 The Evolutionary Origin of Human Subtelomeric Homologies—or Where the Ends Begin Martin, Christa Lese
 2002
 70 4 p. 972-984
13 p.
 artikel
33 The Structure of Diversity within New World Mitochondrial DNA Haplogroups: Implications for the Prehistory of North America Malhi, Ripan S.
 2002
 70 4 p. 905-919
15 p.
 artikel
34 This Month in the Journal Beauregard, Kathryn
 2002
 70 4 p. i-ii
nvt p.
 artikel
35 Traces of Early Eurasians in the Mansi of Northwest Siberia Revealed by Mitochondrial DNA Analysis Derbeneva, Olga A.
 2002
 70 4 p. 1009-1014
6 p.
 artikel
36 X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15 Demirci, F. Yesim K.
 2002
 70 4 p. 1049-1053
5 p.
 artikel
                             36 gevonden resultaten
 
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