| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome
|
Jensen, Matthew
|
|
2018
|
61 |
4 |
p. 209-212
|
artikel
|
| 2 |
A novel NR2F2 loss-of-function mutation predisposes to congenital heart defect
|
Qiao, Xiao-Hui
|
|
2018
|
61 |
4 |
p. 197-203
|
artikel
|
| 3 |
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia
|
Cheng, S.W.
|
|
2018
|
61 |
4 |
p. 219-224
|
artikel
|
| 4 |
Atopic disorders in CHARGE syndrome: A retrospective study and literature review
|
Kong, Fang
|
|
2018
|
61 |
4 |
p. 225-229
|
artikel
|
| 5 |
Copy number variants in people with autism spectrum disorders and co-morbid psychosis
|
Larson, Felicity V.
|
|
2018
|
61 |
4 |
p. 230-234
|
artikel
|
| 6 |
Developmental and cytogenetic assessments of preimplantation embryos derived from in-vivo or in-vitro matured human oocytes
|
Fesahat, Farzaneh
|
|
2018
|
61 |
4 |
p. 235-241
|
artikel
|
| 7 |
Editorial Board
|
|
|
2018
|
61 |
4 |
p. ii
|
artikel
|
| 8 |
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease
|
Neves, João Farela
|
|
2018
|
61 |
4 |
p. 185-188
|
artikel
|
| 9 |
Pakistan Genetic Mutation Database (PGMD); A centralized Pakistani mutome data source
|
Qasim, Iqbal
|
|
2018
|
61 |
4 |
p. 204-208
|
artikel
|
| 10 |
Pancreatic hemi-agenesis in MEN1: A clinical report
|
Vinck, Wouter J.
|
|
2018
|
61 |
4 |
p. 181-184
|
artikel
|
| 11 |
Recontacting in light of new genetic diagnostic techniques for patients with intellectual disability: Feasibility and parental perspectives
|
Beunders, Gea
|
|
2018
|
61 |
4 |
p. 213-218
|
artikel
|
| 12 |
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency
|
Wallis, Mathew
|
|
2018
|
61 |
4 |
p. 189-196
|
artikel
|
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