| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient
|
Gutkowska, Anna
|
|
2005
|
48 |
2 |
p. 207-209
3 p.
|
article
|
| 2 |
Beckwith–Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a “de novo” pericentric inversion of chromosome Y
|
Delicado, Alicia
|
|
2005
|
48 |
2 |
p. 159-166
8 p.
|
article
|
| 3 |
Case report of a patient with non-alcoholic fatty liver disease, moderate iron overload who is homozygous for the S65C mutation in the HFE1 gene
|
Bernard, Pierre-Henri
|
|
2005
|
48 |
2 |
p. 195-198
4 p.
|
article
|
| 4 |
CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter)
|
Schollen, E.
|
|
2005
|
48 |
2 |
p. 153-158
6 p.
|
article
|
| 5 |
Clinical and Mutational Spectrum of Mowat–Wilson Syndrome
|
Zweier, Christiane
|
|
2005
|
48 |
2 |
p. 97-111
15 p.
|
article
|
| 6 |
CV2 Editorial Board redaction
|
|
|
2005
|
48 |
2 |
p. CO2-
1 p.
|
article
|
| 7 |
Editorial
|
Devriendt, Koen
|
|
2005
|
48 |
2 |
p. 79-
1 p.
|
article
|
| 8 |
Follow-up of adult males with chromosome 18p deletion
|
de Ravel, Thomy J.L.
|
|
2005
|
48 |
2 |
p. 189-193
5 p.
|
article
|
| 9 |
Germ-line and somatic PTPN11 mutations in human disease
|
Tartaglia, Marco
|
|
2005
|
48 |
2 |
p. 81-96
16 p.
|
article
|
| 10 |
Ipsilateral foot and controlateral hand anomalies in a patient with Poland–Moebius syndrome
|
Çetin, İbrahim İlker
|
|
2005
|
48 |
2 |
p. 183-187
5 p.
|
article
|
| 11 |
Prader–Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15—case report plus review of similar cases
|
Liehr, Thomas
|
|
2005
|
48 |
2 |
p. 175-181
7 p.
|
article
|
| 12 |
Prenatal Detection of Congenital Renal Malformations by Fetal Ultrasonographic Examination: An Analysis of 709,030 Births in 12 European Countries
|
Wiesel, A.
|
|
2005
|
48 |
2 |
p. 131-144
14 p.
|
article
|
| 13 |
Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature
|
Andrieux, Joris
|
|
2005
|
48 |
2 |
p. 199-206
8 p.
|
article
|
| 14 |
Prevalence of RIB anomalies in normal Caucasian children and childhood cancer patients
|
Merks, Johannes H.M.
|
|
2005
|
48 |
2 |
p. 113-129
17 p.
|
article
|
| 15 |
Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21
|
Riegel, M.
|
|
2005
|
48 |
2 |
p. 167-174
8 p.
|
article
|
| 16 |
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family
|
Van Esch, Hilde
|
|
2005
|
48 |
2 |
p. 145-152
8 p.
|
article
|
Journal description