| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay
|
Thiel, Christian T.
|
|
2008
|
51 |
4 |
p. 362-367
6 p.
|
artikel
|
| 2 |
A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay
|
Chen, Chih-Ping
|
|
2008
|
51 |
4 |
p. 368-372
5 p.
|
artikel
|
| 3 |
A 15Mb duplication of 6q24.1–q25.3 associated with typical but milder features of the duplication 6q syndrome
|
Zweier, Christiane
|
|
2008
|
51 |
4 |
p. 358-361
4 p.
|
artikel
|
| 4 |
A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter→22q12.1: Clinical, cytogenetic and molecular observations
|
Vaglio, Alicia
|
|
2008
|
51 |
4 |
p. 332-342
11 p.
|
artikel
|
| 5 |
Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay
|
Andrieux, Joris
|
|
2008
|
51 |
4 |
p. 373-381
9 p.
|
artikel
|
| 6 |
Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH
|
Utine, Eda G.
|
|
2008
|
51 |
4 |
p. 343-350
8 p.
|
artikel
|
| 7 |
Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype
|
Borsani, Giuseppe
|
|
2008
|
51 |
4 |
p. 292-302
11 p.
|
artikel
|
| 8 |
Editorial Board redaction
|
|
|
2008
|
51 |
4 |
p. IFC-
1 p.
|
artikel
|
| 9 |
Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat
|
Kaisaki, Pamela J.
|
|
2008
|
51 |
4 |
p. 325-331
7 p.
|
artikel
|
| 10 |
Molecular analysis of Turkish Gaucher disease patients: Identification of novel mutations in glucocerebrosidase (GBA) gene
|
Emre, Serap
|
|
2008
|
51 |
4 |
p. 315-321
7 p.
|
artikel
|
| 11 |
No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver–Russell patients
|
Schöherr, Nadine
|
|
2008
|
51 |
4 |
p. 322-324
3 p.
|
artikel
|
| 12 |
Patau syndrome with long survival in a case of unusual mosaic trisomy 13
|
Fogu, Giuseppina
|
|
2008
|
51 |
4 |
p. 303-314
12 p.
|
artikel
|
| 13 |
P35S mutation in the NOG gene associated with Teunissen–Cremers syndrome and features of multiple NOG joint-fusion syndromes
|
Hirshoren, Nir
|
|
2008
|
51 |
4 |
p. 351-357
7 p.
|
artikel
|
| 14 |
The genetic basis of inherited anomalies of the teeth
|
Bailleul-Forestier, Isabelle
|
|
2008
|
51 |
4 |
p. 273-291
19 p.
|
artikel
|
Tijdschrift beschrijving