| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability
|
Cobben, J.M.
|
|
2014
|
57 |
11-12 |
p. 636-638
3 p.
|
artikel
|
| 2 |
Atypical hematologic and renal manifestations in Neurofibromatosis type I: Coincidence or pathophysiological link?
|
Van-Gils, Julien
|
|
2014
|
57 |
11-12 |
p. 639-642
4 p.
|
artikel
|
| 3 |
Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene
|
Mandel, Hanna
|
|
2014
|
57 |
11-12 |
p. 607-612
6 p.
|
artikel
|
| 4 |
DICER1 mutations in a patient with an ovarian Sertoli-Leydig tumor, well-differentiated fetal adenocarcinoma of the lung, and familial multinodular goiter
|
Wu, Yingchen
|
|
2014
|
57 |
11-12 |
p. 621-625
5 p.
|
artikel
|
| 5 |
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis
|
Linhares, Natália D.
|
|
2014
|
57 |
11-12 |
p. 643-648
6 p.
|
artikel
|
| 6 |
First steps in exploring prospective exome sequencing of consanguineous couples
|
Teeuw, Marieke
|
|
2014
|
57 |
11-12 |
p. 613-616
4 p.
|
artikel
|
| 7 |
Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature
|
Tassano, Elisa
|
|
2014
|
57 |
11-12 |
p. 626-629
4 p.
|
artikel
|
| 8 |
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: First confirmation of a duplication in RUNX2 as pathogenic variant
|
Avela, Kristiina
|
|
2014
|
57 |
11-12 |
p. 617-620
4 p.
|
artikel
|
| 9 |
16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems
|
Gerundino, Francesca
|
|
2014
|
57 |
11-12 |
p. 649-653
5 p.
|
artikel
|
| 10 |
19q13.32 microdeletion syndrome: Three new cases
|
Castillo, Angela
|
|
2014
|
57 |
11-12 |
p. 654-658
5 p.
|
artikel
|
| 11 |
Root dentin anomaly and a PLG mutation
|
Tananuvat, Napaporn
|
|
2014
|
57 |
11-12 |
p. 630-635
6 p.
|
artikel
|
| 12 |
Sickle cell anemia and α-thalassemia: A modulating factor in homozygous HbS/S patients in Oman
|
Hassan, S.M.
|
|
2014
|
57 |
11-12 |
p. 603-606
4 p.
|
artikel
|
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