| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
CV2 Editorial Board redaction
|
|
|
2007
|
50 |
6 |
p. IFC-
1 p.
|
artikel
|
| 2 |
Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway
|
Allanson, Judith
|
|
2007
|
50 |
6 |
p. 482-483
2 p.
|
artikel
|
| 3 |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome
|
Karall, Daniela
|
|
2007
|
50 |
6 |
p. 465-468
4 p.
|
artikel
|
| 4 |
Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero
|
Kini, Usha
|
|
2007
|
50 |
6 |
p. 411-420
10 p.
|
artikel
|
| 5 |
Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome
|
Wimplinger, Isabella
|
|
2007
|
50 |
6 |
p. 421-431
11 p.
|
artikel
|
| 6 |
Prenatal diagnosis of mosaicism for 11q terminal deletion
|
Valduga, M.
|
|
2007
|
50 |
6 |
p. 475-481
7 p.
|
artikel
|
| 7 |
Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2→qter
|
Poot, Martin
|
|
2007
|
50 |
6 |
p. 432-440
9 p.
|
artikel
|
| 8 |
Pure proximal deletion of chromosome 21 and kyphosis
|
Keren, Boris
|
|
2007
|
50 |
6 |
p. 469-474
6 p.
|
artikel
|
| 9 |
Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12
|
Menten, Björn
|
|
2007
|
50 |
6 |
p. 446-454
9 p.
|
artikel
|
| 10 |
Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4–KCNQ2 genes loci
|
Elghezal, Hatem
|
|
2007
|
50 |
6 |
p. 441-445
5 p.
|
artikel
|
| 11 |
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
|
Kousoulidou, Ludmila
|
|
2007
|
50 |
6 |
p. 399-410
12 p.
|
artikel
|
| 12 |
Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip–palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)
|
Callier, P.
|
|
2007
|
50 |
6 |
p. 455-464
10 p.
|
artikel
|
Tijdschrift beschrijving