| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
|
Okamoto, N.
|
|
2002
|
47 |
10 |
p. 0556-0559
|
artikel
|
| 2 |
Catalog of 86 single-nucleotide polymorphisms (SNPs) in three uridine diphosphate glycosyltransferase genes: UGT2A1, UGT2B15, and UGT8
|
Iida, A.
|
|
2002
|
47 |
10 |
p. 0505-0510
|
artikel
|
| 3 |
Comparative study on deletions of the dystrophin gene in three Asian populations
|
Lai, P.-S.
|
|
2002
|
47 |
10 |
p. 0552-0555
|
artikel
|
| 4 |
Familial 14-Mb deletion at 21q11.2–q21.3 and variable phenotypic expression
|
Wakui, K.
|
|
2002
|
47 |
10 |
p. 0511-0516
|
artikel
|
| 5 |
Molecular cloning and characterization of a novel human Rab (Rab2B) gene
|
Ni, X.
|
|
2002
|
47 |
10 |
p. 0548-0551
|
artikel
|
| 6 |
No intraindividual variation of disomy rate in sperm samples
|
Amiel, A.
|
|
2002
|
47 |
10 |
p. 0539-0542
|
artikel
|
| 7 |
Ovarian cancer of endometrioid type as part of the MSH6 gene mutation phenotype
|
Suchy, J.
|
|
2002
|
47 |
10 |
p. 0529-0531
|
artikel
|
| 8 |
Single-nucleotide polymorphisms in the class II region of the major histocompatibility complex in Japanese patients with immunoglobulin A nephropathy
|
Akiyama, F.
|
|
2002
|
47 |
10 |
p. 0532-0538
|
artikel
|
| 9 |
Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency
|
Lee, H.-H.
|
|
2002
|
47 |
10 |
p. 0517-0522
|
artikel
|
| 10 |
Two families with Wilson disease in which siblings showed different phenotypes
|
Takeshita, Y.
|
|
2002
|
47 |
10 |
p. 0543-0547
|
artikel
|
| 11 |
Yfm1, a multicopy marker specific for the Y chromosome and beneficial for forensic, population, genetic, and spermatogenesis-related studies
|
Ewis, A. A.
|
|
2002
|
47 |
10 |
p. 0523-0528
|
artikel
|
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