| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Chromatin modifications of hTERT gene in hTERT-immortalized human mesenchymal stem cells upon exposure to radiation
|
Serakinci, Nedime
|
|
2018
|
61 |
5 |
p. 288-293
|
artikel
|
| 2 |
Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review
|
Spineli-Silva, Samira
|
|
2018
|
61 |
5 |
p. 262-268
|
artikel
|
| 3 |
Editorial Board
|
|
|
2018
|
61 |
5 |
p. ii
|
artikel
|
| 4 |
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia
|
Jacquinet, Adeline
|
|
2018
|
61 |
5 |
p. 257-261
|
artikel
|
| 5 |
Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)
|
Valenzuela, Irene
|
|
2018
|
61 |
5 |
p. 269-272
|
artikel
|
| 6 |
Identification of a novel CTR9 germline mutation in a family with Wilms tumor
|
Martins, António G.
|
|
2018
|
61 |
5 |
p. 294-299
|
artikel
|
| 7 |
2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family
|
Wafik, Mohamed
|
|
2018
|
61 |
5 |
p. 273-279
|
artikel
|
| 8 |
PDD-NOS, psychotic features and executive function deficits in a boy with proximal 22q11.2 microduplication: Evolution of the psychiatric symptom profile from childhood to adolescence
|
Woestelandt, L.
|
|
2018
|
61 |
5 |
p. 280-283
|
artikel
|
| 9 |
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects
|
Uehara, Tomoko
|
|
2018
|
61 |
5 |
p. 243-247
|
artikel
|
| 10 |
Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders
|
Palumbo, Orazio
|
|
2018
|
61 |
5 |
p. 248-252
|
artikel
|
| 11 |
Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms
|
Schoenaker, M.H.D.
|
|
2018
|
61 |
5 |
p. 284-287
|
artikel
|
| 12 |
The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum
|
McDermott, J.H.
|
|
2018
|
61 |
5 |
p. 253-256
|
artikel
|
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