| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants
|
Boycott, Kym
|
|
2001
|
108 |
2 |
p. 91-97
|
artikel
|
| 2 |
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells
|
Ellis, Nathan
|
|
2001
|
108 |
2 |
p. 167-173
|
artikel
|
| 3 |
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells
|
Ellis, Nathan
|
|
2001
|
108 |
2 |
p. 167-173
|
artikel
|
| 4 |
Characterization of new mutations in the coding sequence and 5'-untranslated region of the human prostacyclin synthase gene (CYP8A1)
|
Chevalier, Dany
|
|
2001
|
108 |
2 |
p. 148-155
|
artikel
|
| 5 |
Clonal maintenance of imprinted expression of SNRPN and IPW in normal lymphocytes: correlation with allele-specific methylation of SNRPN intron 1 but not intron 7
|
Balmer, Damina
|
|
2001
|
108 |
2 |
p. 116-122
|
artikel
|
| 6 |
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome
|
Mailman, Matthew
|
|
2001
|
108 |
2 |
p. 109-115
|
artikel
|
| 7 |
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains
|
Wattenhofer, Marie
|
|
2001
|
108 |
2 |
p. 140-147
|
artikel
|
| 8 |
Lack of association between α2-macroglobulin polymorphisms and Alzheimer's disease
|
Wang, Xiaoyan
|
|
2001
|
108 |
2 |
p. 105-108
|
artikel
|
| 9 |
Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization
|
Herzog, Susanne
|
|
2001
|
108 |
2 |
p. 98-104
|
artikel
|
| 10 |
Neonatal presentation of adult-onset type II citrullinemia
|
Ohura, Toshihiro
|
|
2001
|
108 |
2 |
p. 87-90
|
artikel
|
| 11 |
Numerical chromosome abnormalities in the spermatozoa of the fathers of children with trisomy 21 of paternal origin: generalised tendency to meiotic non-disjunction
|
Soares, Sérgio
|
|
2001
|
108 |
2 |
p. 134-139
|
artikel
|
| 12 |
Polymorphism in promoter region of Fcα receptor gene in patients with IgA nephropathy
|
Tsuge, Toshinao
|
|
2001
|
108 |
2 |
p. 128-133
|
artikel
|
| 13 |
Quantitation of fetal DNA in maternal serum in normal and aneuploid pregnancies
|
Ohashi, Yoko
|
|
2001
|
108 |
2 |
p. 123-127
|
artikel
|
| 14 |
TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene
|
Longa, Lucia
|
|
2001
|
108 |
2 |
p. 156-166
|
artikel
|
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