| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel RORA genetic variant associated with early-onset obesity and insomnia
|
Ouellette, Alexie
|
|
|
76 |
C |
p.
|
artikel
|
| 2 |
Clinical variability in individuals with ATR-X syndrome in the Netherlands
|
Noordhuis-Zijderveld, Anne
|
|
|
76 |
C |
p.
|
artikel
|
| 3 |
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders
|
Neuens, Sebastian
|
|
|
76 |
C |
p.
|
artikel
|
| 4 |
Epileptic seizures and EEG findings in 3p deletion syndrome involving SLC6A1
|
Oguri, Saori
|
|
|
76 |
C |
p.
|
artikel
|
| 5 |
Hexasomy of the 15q11q13 region: a detailed report and review of the literature
|
Chan, Charissa Y.Z.
|
|
|
76 |
C |
p.
|
artikel
|
| 6 |
Novel STAG2 variant expands Mullegama-Klein-Martinez Syndrome phenotype
|
Duff, Cormac
|
|
|
76 |
C |
p.
|
artikel
|
| 7 |
Parental communication about inherited conditions with young Children: Insights from genetic professionals in Portugal
|
Seidi, Catarina
|
|
|
76 |
C |
p.
|
artikel
|
| 8 |
Partial 3q tetrasomy: Defining the syndrome, neocentromeres, and an additional case report
|
Hauberg, Mads E.
|
|
|
76 |
C |
p.
|
artikel
|
| 9 |
Uniparental isodisomy of chromosome 1 involving NPHS2 in steroid-resistant nephrotic syndrome with renal failure
|
Magliulo, S.
|
|
|
76 |
C |
p.
|
artikel
|
| 10 |
Variable expressivity of a transmitted pathogenic KAT6B variant
|
Rasmussen, Ninna Bager
|
|
|
76 |
C |
p.
|
artikel
|
| 11 |
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling
|
Konduri, Megha
|
|
|
76 |
C |
p.
|
artikel
|
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