nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Advances in genetic, epigenetic and environmental aspects of rare liver diseases
|
Andersson, Emma R. |
|
|
65 |
2 |
p. |
artikel |
2 |
A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome
|
Legrand, Clémentine |
|
|
65 |
2 |
p. |
artikel |
3 |
Challenges in variant interpretation in prenatal exome sequencing
|
Basel-Salmon, Lina |
|
|
65 |
2 |
p. |
artikel |
4 |
Editorial Board
|
|
|
|
65 |
2 |
p. |
artikel |
5 |
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects
|
Orlov, Igor E. |
|
|
65 |
2 |
p. |
artikel |
6 |
mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome
|
Ivanova, Nadezda |
|
|
65 |
2 |
p. |
artikel |
7 |
Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III
|
Dekker, Silvy |
|
|
65 |
2 |
p. |
artikel |
8 |
Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss
|
Jin, Xiaohua |
|
|
65 |
2 |
p. |
artikel |
9 |
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy
|
Accogli, Andrea |
|
|
65 |
2 |
p. |
artikel |
10 |
Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases
|
Mary, Laura |
|
|
65 |
2 |
p. |
artikel |
11 |
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A
|
Slavotinek, Anne |
|
|
65 |
2 |
p. |
artikel |