| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ADDing a piece to the puzzle of cognition in schizophrenia
|
Bosia, Marta
|
|
2016
|
59 |
1 |
p. 26-31
6 p.
|
artikel
|
| 2 |
A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome
|
Ben Abdelaziz, Rim
|
|
2016
|
59 |
1 |
p. 16-19
4 p.
|
artikel
|
| 3 |
First report on concordant monozygotic twins with Silver–Russell syndrome and ICR1 hypomethylation
|
Rieß, Angelika
|
|
2016
|
59 |
1 |
p. 1-4
4 p.
|
artikel
|
| 4 |
Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivation
|
Janczar, Szymon
|
|
2016
|
59 |
1 |
p. 43-47
5 p.
|
artikel
|
| 5 |
Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits
|
Tassano, Elisa
|
|
2016
|
59 |
1 |
p. 20-25
6 p.
|
artikel
|
| 6 |
Karyotype is not dead (yet)!
|
Pasquier, Laurent
|
|
2016
|
59 |
1 |
p. 11-15
5 p.
|
artikel
|
| 7 |
Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray
|
Lund, Ida Charlotte Bay
|
|
2016
|
59 |
1 |
p. 48-51
4 p.
|
artikel
|
| 8 |
Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features
|
Silipigni, Rosamaria
|
|
2016
|
59 |
1 |
p. 39-42
4 p.
|
artikel
|
| 9 |
Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome
|
Mussa, Alessandro
|
|
2016
|
59 |
1 |
p. 52-64
13 p.
|
artikel
|
| 10 |
Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature
|
Aggarwal, Shagun
|
|
2016
|
59 |
1 |
p. 5-10
6 p.
|
artikel
|
| 11 |
Shooting a moving target. Researching autism genes: An interview study with professionals
|
Hens, Kristien
|
|
2016
|
59 |
1 |
p. 32-38
7 p.
|
artikel
|
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