| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications
|
Thienpont, Bernard
|
|
2008
|
51 |
3 |
p. 219-225
7 p.
|
artikel
|
| 2 |
A new case of mosaicism for invdup(15) duplicated for Prader–Willi/Angelman syndrome critical region (PWACR) in an adult healthy man
|
Guanciali-Franchi, Paolo
|
|
2008
|
51 |
3 |
p. 239-244
6 p.
|
artikel
|
| 3 |
Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum
|
Nogueira, Sintia Iole
|
|
2008
|
51 |
3 |
p. 226-230
5 p.
|
artikel
|
| 4 |
Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis
|
Zechi-Ceide, Roseli Maria
|
|
2008
|
51 |
3 |
p. 183-196
14 p.
|
artikel
|
| 5 |
CV2 Editorial Board redaction
|
|
|
2008
|
51 |
3 |
p. IFC-
1 p.
|
artikel
|
| 6 |
Direct tandem duplication in chromosome 19q characterized by array CGH
|
Palomares Bralo, Maria
|
|
2008
|
51 |
3 |
p. 257-263
7 p.
|
artikel
|
| 7 |
Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome
|
Galán-Gómez, Enrique
|
|
2008
|
51 |
3 |
p. 268-271
4 p.
|
artikel
|
| 8 |
Gomez–Lopez-Hernandez syndrome: An easily missed diagnosis
|
Poretti, Andrea
|
|
2008
|
51 |
3 |
p. 197-208
12 p.
|
artikel
|
| 9 |
Inherited 18q23 duplication in a fetus with multiple congenital anomalies
|
Isidor, Bertrand
|
|
2008
|
51 |
3 |
p. 231-238
8 p.
|
artikel
|
| 10 |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene
|
Monroy, Nancy
|
|
2008
|
51 |
3 |
p. 245-250
6 p.
|
artikel
|
| 11 |
Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve–Melchior–Clausen syndrome
|
Girisha, K.M.
|
|
2008
|
51 |
3 |
p. 251-256
6 p.
|
artikel
|
| 12 |
QF-PCR-based prenatal detection of common aneuploidies in the Czech population: Five years of experience
|
Putzova, Martina
|
|
2008
|
51 |
3 |
p. 209-218
10 p.
|
artikel
|
| 13 |
Question mark ears and post-auricular tags
|
Gerkes, Erica H.
|
|
2008
|
51 |
3 |
p. 264-267
4 p.
|
artikel
|
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