| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II syndrome
|
Wu, Lina
|
|
|
71 |
C |
p.
|
artikel
|
| 2 |
Attitudes towards disclosure of familial genetic risk in a Mediterranean island population – A survey of the Maltese population
|
Mintoff, Dillon
|
|
|
71 |
C |
p.
|
artikel
|
| 3 |
Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy
|
Jiang, Nan
|
|
|
71 |
C |
p.
|
artikel
|
| 4 |
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy
|
Esmel-Vilomara, Roger
|
|
|
71 |
C |
p.
|
artikel
|
| 5 |
Demystifying gene(tic) therapies
|
Chan, Chun-Hung
|
|
|
71 |
C |
p.
|
artikel
|
| 6 |
Digital clubbing without hypoxia for lysinuric protein intolerance
|
Watanabe, Daisuke
|
|
|
71 |
C |
p.
|
artikel
|
| 7 |
Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study
|
Beyzaei, Zahra
|
|
|
71 |
C |
p.
|
artikel
|
| 8 |
Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF462 variants: Three new patients and literature review
|
van der Laan, Liselot
|
|
|
71 |
C |
p.
|
artikel
|
| 9 |
The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion
|
Da Cás, Eduardo
|
|
|
71 |
C |
p.
|
artikel
|
Tijdschrift beschrijving