| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder
|
Helman, Guy
|
|
|
64 |
8 |
p.
|
artikel
|
| 2 |
A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction
|
Aiba, Kaori
|
|
|
64 |
8 |
p.
|
artikel
|
| 3 |
A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia
|
Radulovic, Ivana
|
|
|
64 |
8 |
p.
|
artikel
|
| 4 |
A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome
|
Endrakanti, Mounika
|
|
|
64 |
8 |
p.
|
artikel
|
| 5 |
Concomitant congenital CMV infection and inherited liver diseases
|
Swed-Tobia, Rana
|
|
|
64 |
8 |
p.
|
artikel
|
| 6 |
Editorial Board
|
|
|
|
64 |
8 |
p.
|
artikel
|
| 7 |
Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature
|
Halloun, Rana
|
|
|
64 |
8 |
p.
|
artikel
|
| 8 |
Navigating a world of genes: A conceptual analysis of gene fetishism, geneticization, genetic exceptionalism and genetic essentialism
|
Mannette, Ruel
|
|
|
64 |
8 |
p.
|
artikel
|
| 9 |
Phenotype of ST3GAL3 deficient patients: A case and review of the literature
|
Khamirani, Hossein Jafari
|
|
|
64 |
8 |
p.
|
artikel
|
| 10 |
Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region
|
Erbs, Emilie
|
|
|
64 |
8 |
p.
|
artikel
|
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