nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
|
Ion, Andra |
|
2002 |
|
4-5 |
p. 421-427 |
artikel |
2 |
A detailed physical map of the 6p reading disability locus, including new markers and confirmation of recombination suppression
|
Ahn, Jung |
|
2002 |
|
4-5 |
p. 339-349 |
artikel |
3 |
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
|
Morgan, Neil V. |
|
2002 |
|
4-5 |
p. 456-461 |
artikel |
4 |
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved
|
McCready, Elizabeth M. |
|
2002 |
|
4-5 |
p. 368-375 |
artikel |
5 |
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene
|
Linnebank, Michael |
|
2002 |
|
4-5 |
p. 350-359 |
artikel |
6 |
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11
|
Salehi, Leila |
|
2002 |
|
4-5 |
p. 401-404 |
artikel |
7 |
Associations between gene expressions in breast cancer and patient survival
|
Jenssen, T.-K. |
|
2002 |
|
4-5 |
p. 411-420 |
artikel |
8 |
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.
|
Monk, David |
|
2002 |
|
4-5 |
p. 376-387 |
artikel |
9 |
CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highly significant association with a determinant in the promoter region
|
Hudson, Lori L. |
|
2002 |
|
4-5 |
p. 452-455 |
artikel |
10 |
Derek Chadwick, Jamie Goode (eds): The Genetics and Biology of Sex Determination (Novartis Symposium 244)
|
Greenfield, Andy |
|
2002 |
|
4-5 |
p. 473-474 |
artikel |
11 |
Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes
|
Koppens, Paul F. |
|
2002 |
|
4-5 |
p. 405-410 |
artikel |
12 |
ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago
|
Shea, Patrick R. |
|
2002 |
|
4-5 |
p. 398-400 |
artikel |
13 |
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa
|
Le Saux, Olivier |
|
2002 |
|
4-5 |
p. 331-338 |
artikel |
14 |
Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees
|
Semprini, Sabrina |
|
2002 |
|
4-5 |
p. 310-313 |
artikel |
15 |
Folate and human development
|
Fryer, Alan |
|
2002 |
|
4-5 |
p. 470-471 |
artikel |
16 |
Frontiers of hormone research (series editor: A.B. Grossman), volume 28: genetic disorders of endocrine neoplasia
|
Pearce, Simon |
|
2002 |
|
4-5 |
p. 472 |
artikel |
17 |
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency
|
Sumi, Satoshi |
|
2002 |
|
4-5 |
p. 360-367 |
artikel |
18 |
Genomic evidence versus characterisation of a single (17;22) translocation on NF1 gene duplication: lessons from deletions in "balanced" chromosomal rearrangements. Reply
|
Riva, Paola |
|
2002 |
|
4-5 |
p. 468-469 |
artikel |
19 |
Identification and characterisation of novel mammalian homologues of Drosophila polyhomeotic permits new insights into relationships between members of the polyhomeotic family
|
Tonkin, Emma |
|
2002 |
|
4-5 |
p. 435-442 |
artikel |
20 |
Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
|
Verbeek, Dineke S. |
|
2002 |
|
4-5 |
p. 388-393 |
artikel |
21 |
Investigation of oxidized LDL-receptor 1 (OLR1) as the candidate gene for Alzheimer's disease on chromosome 12
|
Luedecking-Zimmer, Erin |
|
2002 |
|
4-5 |
p. 443-451 |
artikel |
22 |
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity
|
Génin, Emmanuelle |
|
2002 |
|
4-5 |
p. 428-434 |
artikel |
23 |
Mitochondrial DNA 5178A polymorphism and longevity
|
Yao, Yong-Gang |
|
2002 |
|
4-5 |
p. 462-463 |
artikel |
24 |
Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication
|
Kehrer-Sawatzki, Hildegard |
|
2002 |
|
4-5 |
p. 465-467 |
artikel |
25 |
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts
|
Forlino, Antonella |
|
2002 |
|
4-5 |
p. 314-322 |
artikel |
26 |
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism
|
Beyer, Kim S. |
|
2002 |
|
4-5 |
p. 305-309 |
artikel |
27 |
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
|
Ming, Jeffrey E. |
|
2002 |
|
4-5 |
p. 464 |
artikel |
28 |
October 2002
|
, |
|
2002 |
|
4-5 |
p. 475 |
artikel |
29 |
Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity
|
Stöber, Gerald |
|
2002 |
|
4-5 |
p. 323-330 |
artikel |
30 |
The prevalence of connexin 26 (GJB2) mutations in the Chinese population
|
Liu, Xue |
|
2002 |
|
4-5 |
p. 394-397 |
artikel |