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 |