| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A patient with hydranencephaly and PEHO-like dysmorphic features
|
Goizet, Cyril
|
|
2003
|
46 |
1 |
p. 25-28
4 p.
|
artikel
|
| 2 |
Concurrence of fragile X and Klinefelter syndromes: report of a new case of paternal nondisjunction
|
Santos, Cíntia Barros
|
|
2003
|
46 |
1 |
p. 53-55
3 p.
|
artikel
|
| 3 |
Disease associated balanced chromosome rearrangements (DBCR): report of two new cases
|
Tonk, V.S.
|
|
2003
|
46 |
1 |
p. 37-43
7 p.
|
artikel
|
| 4 |
From animal transgenesis to human biotherapy
|
|
|
2003
|
46 |
1 |
p. 61-62
2 p.
|
artikel
|
| 5 |
Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families
|
Gruenauer-Kloevekorn, Claudia
|
|
2003
|
46 |
1 |
p. 19-23
5 p.
|
artikel
|
| 6 |
Interstitial “de novo” tandem duplication of 7(q31.1-q35): first reported case
|
Zelante, L.
|
|
2003
|
46 |
1 |
p. 49-52
4 p.
|
artikel
|
| 7 |
Mucopolysaccharidosis I: a comparative study of haplotypes Eco47III–NspI sites frequencies in patients and healthy subjects of Mexican population
|
Gallegos-Arreola, M.P.
|
|
2003
|
46 |
1 |
p. 7-10
4 p.
|
artikel
|
| 8 |
Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23)
|
Domínguez, María G.
|
|
2003
|
46 |
1 |
p. 45-48
4 p.
|
artikel
|
| 9 |
Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p
|
Ahlbom, Bodil Edman
|
|
2003
|
46 |
1 |
p. 29-35
7 p.
|
artikel
|
| 10 |
Skeletal dysplasias of the child
|
Stoll, Claude
|
|
2003
|
46 |
1 |
p. 62-
1 p.
|
artikel
|
| 11 |
Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature
|
Bouayed Abdelmoula, Nouha
|
|
2003
|
46 |
1 |
p. 11-18
8 p.
|
artikel
|
| 12 |
Study of placenta of children born with congenital malformations
|
Stoll, Claude
|
|
2003
|
46 |
1 |
p. 1-5
5 p.
|
artikel
|
| 13 |
True hermaphroditism with 46,X,+22p/46,XY and gonadal mosaicism detected by fluorescence in situ hybridization
|
Takano, Takako
|
|
2003
|
46 |
1 |
p. 57-60
4 p.
|
artikel
|
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