| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel KDM5C variant corrects a previously erroneous diagnosis
|
Chapin, Julia
|
|
|
74 |
C |
p.
|
artikel
|
| 2 |
Cardiogenetics and uncertainty: Evaluation of professional vulnerability in France
|
Gaudillat, Lea
|
|
|
74 |
C |
p.
|
artikel
|
| 3 |
Co-occurring non-urinary congenital anomalies among cases with congenital anomalies of the kidney and urinary tract
|
Stoll, Claude
|
|
|
74 |
C |
p.
|
artikel
|
| 4 |
Hepatic manifestations in VPS53-related pontocerebellar hypoplasia type 2E: A case report
|
Mouchez, Auriane
|
|
|
74 |
C |
p.
|
artikel
|
| 5 |
Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene
|
Pilz, Robin A.
|
|
|
74 |
C |
p.
|
artikel
|
| 6 |
Promoting reflective practice: Exploring access to supervision in European genetic counselling programmes
|
Costa, Inês
|
|
|
74 |
C |
p.
|
artikel
|
| 7 |
Public attitudes towards disclosure of genetic risk in the family: A survey in a sample of the Portuguese general population
|
Ribeiro, Iara
|
|
|
74 |
C |
p.
|
artikel
|
| 8 |
Rare care – Cross-sector care coordination
|
Baynam, Gareth
|
|
|
74 |
C |
p.
|
artikel
|
| 9 |
Seven loci associated with schizophrenia and bipolar I disorder in selected southern African population groups
|
Schneider, Sue-Rica
|
|
|
74 |
C |
p.
|
artikel
|
| 10 |
Tailoring monogenic disease carrier screening panels for Chinese populations: The importance of considering regional differences
|
Hou, Wei
|
|
|
74 |
C |
p.
|
artikel
|
| 11 |
Variability in autism spectrum phenotypes linked to heterozygous missense familial ANK2 mutation
|
Garotti, R.
|
|
|
74 |
C |
p.
|
artikel
|
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