| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An intracranial carcinoma in a Mexican woman with Bloom syndrome
|
Nuño-Arana, Ismael
|
|
2000
|
43 |
1 |
p. 55-57
3 p.
|
artikel
|
| 2 |
Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q
|
Faivre, Laurence
|
|
2000
|
43 |
1 |
p. 35-38
4 p.
|
artikel
|
| 3 |
Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation
|
Billuart, Pierre
|
|
2000
|
43 |
1 |
p. 5-9
5 p.
|
artikel
|
| 4 |
Evaluation of prenatal diagnosis of cleft lip/palate by foetal ultrasonographic examination
|
Stoll, Claude
|
|
2000
|
43 |
1 |
p. 11-14
4 p.
|
artikel
|
| 5 |
Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature
|
Mergenthaler, Susanne
|
|
2000
|
43 |
1 |
p. 15-21
7 p.
|
artikel
|
| 6 |
Hypomelanosis of Ito and a ‘mirror image’ whole chromosome duplication resulting in trisomy 14 mosaicism
|
Tunca, Yusuf
|
|
2000
|
43 |
1 |
p. 39-43
5 p.
|
artikel
|
| 7 |
inv(9)(p24q13) in three sterile brothers
|
Dávalos, Ingrid P
|
|
2000
|
43 |
1 |
p. 51-54
4 p.
|
artikel
|
| 8 |
Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case
|
Granata, Paola
|
|
2000
|
43 |
1 |
p. 45-50
6 p.
|
artikel
|
| 9 |
Molecular diagnosis of the fragile X and FRAXE syndromes in patients with mental retardation of unknown cause in Mexico
|
González-del Angel, Ariadna
|
|
2000
|
43 |
1 |
p. 29-34
6 p.
|
artikel
|
| 10 |
Origin of trisomy 21 in Down syndrome cases from a Spanish population registry
|
Gómez, David
|
|
2000
|
43 |
1 |
p. 23-28
6 p.
|
artikel
|
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