| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features
|
Akcar, Nevbahar
|
|
2004
|
47 |
3 |
p. 261-265
5 p.
|
artikel
|
| 2 |
A familial complex chromosome translocation resulting in duplication of 6p25
|
Vermeesch, J.R.
|
|
2004
|
47 |
3 |
p. 275-280
6 p.
|
artikel
|
| 3 |
Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion
|
Voelckel, Marie-Antoinette
|
|
2004
|
47 |
3 |
p. 235-240
6 p.
|
artikel
|
| 4 |
Androgen receptor gene CAG repeats length in fertile and infertile Tunisian men
|
Hadjkacem, Lobna
|
|
2004
|
47 |
3 |
p. 217-224
8 p.
|
artikel
|
| 5 |
Auricular mild errors of morphogenesis: epidemiological analysis, local correlations and clinical significance
|
Bader, David
|
|
2004
|
47 |
3 |
p. 225-234
10 p.
|
artikel
|
| 6 |
Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases
|
Lespinasse, J.
|
|
2004
|
47 |
3 |
p. 315-324
10 p.
|
artikel
|
| 7 |
Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications
|
Verri, Annapia
|
|
2004
|
47 |
3 |
p. 281-287
7 p.
|
artikel
|
| 8 |
Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases
|
Chantot-Bastaraud, Sandra
|
|
2004
|
47 |
3 |
p. 241-249
9 p.
|
artikel
|
| 9 |
CV2 Editorial Board redaction
|
|
|
2004
|
47 |
3 |
p. IFC-
1 p.
|
artikel
|
| 10 |
G-protein β3 subunit gene C825T polymorphism in patients with vesico-ureteric reflux
|
Zagradisnik, Boris
|
|
2004
|
47 |
3 |
p. 209-216
8 p.
|
artikel
|
| 11 |
Inherited ring chromosome 8 without loss of subtelomeric sequences
|
Le Caignec, Cedric
|
|
2004
|
47 |
3 |
p. 289-296
8 p.
|
artikel
|
| 12 |
Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting
|
Kotzot, Dieter
|
|
2004
|
47 |
3 |
p. 251-260
10 p.
|
artikel
|
| 13 |
Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15)
|
Varela, Monica C.
|
|
2004
|
47 |
3 |
p. 267-273
7 p.
|
artikel
|
| 14 |
Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18
|
Prabhakara, K.
|
|
2004
|
47 |
3 |
p. 297-303
7 p.
|
artikel
|
| 15 |
Turner syndrome female with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis
|
Bouayed Abdelmoula, N.
|
|
2004
|
47 |
3 |
p. 305-313
9 p.
|
artikel
|
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