| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Chinese patient with KBG syndrome and a 9q31.2–33.1 microdeletion
|
Xu, Mingzhi
|
|
2013
|
56 |
5 |
p. 245-250
6 p.
|
artikel
|
| 2 |
A further heterogeneous locus contained in 8q21 for Freeman–Sheldon syndrome may be suggested by Kristin Hofmann
|
Li, Xuefu
|
|
2013
|
56 |
5 |
p. 278-
1 p.
|
artikel
|
| 3 |
Birth defects after incestuous mating: Calculating the probability of causality and reflecting on the desirability of genetic testing
|
ten Kate, Leo P.
|
|
2013
|
56 |
5 |
p. 243-244
2 p.
|
artikel
|
| 4 |
Familial KANK1 deletion that does not follow expected imprinting pattern
|
Vanzo, Rena J.
|
|
2013
|
56 |
5 |
p. 256-259
4 p.
|
artikel
|
| 5 |
Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p
|
Schlade-Bartusiak, Kamilla
|
|
2013
|
56 |
5 |
p. 229-235
7 p.
|
artikel
|
| 6 |
Left ventricular hypertrophy caused by a novel nonsense mutation in FHL1
|
Gossios, Thomas D.
|
|
2013
|
56 |
5 |
p. 251-255
5 p.
|
artikel
|
| 7 |
MEF2C deletions and mutations versus duplications: A clinical comparison
|
Novara, Francesca
|
|
2013
|
56 |
5 |
p. 260-265
6 p.
|
artikel
|
| 8 |
Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins
|
Popovici, Cornel
|
|
2013
|
56 |
5 |
p. 274-277
4 p.
|
artikel
|
| 9 |
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype
|
Auer-Grumbach, Michaela
|
|
2013
|
56 |
5 |
p. 266-269
4 p.
|
artikel
|
| 10 |
Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia
|
Rocas, Delphine
|
|
2013
|
56 |
5 |
p. 270-273
4 p.
|
artikel
|
| 11 |
The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995–2010
|
Nguyen-Nielsen, Mary
|
|
2013
|
56 |
5 |
p. 236-242
7 p.
|
artikel
|
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