| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Advances in genetic, epigenetic and environmental aspects of rare liver diseases
|
Andersson, Emma R.
|
|
|
65 |
2 |
p.
|
article
|
| 2 |
A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome
|
Legrand, Clémentine
|
|
|
65 |
2 |
p.
|
article
|
| 3 |
Challenges in variant interpretation in prenatal exome sequencing
|
Basel-Salmon, Lina
|
|
|
65 |
2 |
p.
|
article
|
| 4 |
Editorial Board
|
|
|
|
65 |
2 |
p.
|
article
|
| 5 |
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects
|
Orlov, Igor E.
|
|
|
65 |
2 |
p.
|
article
|
| 6 |
mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome
|
Ivanova, Nadezda
|
|
|
65 |
2 |
p.
|
article
|
| 7 |
Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III
|
Dekker, Silvy
|
|
|
65 |
2 |
p.
|
article
|
| 8 |
Novel CRISPR/Cas12a-based genetic diagnostic approach for SLC26A4 mutation-related hereditary hearing loss
|
Jin, Xiaohua
|
|
|
65 |
2 |
p.
|
article
|
| 9 |
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy
|
Accogli, Andrea
|
|
|
65 |
2 |
p.
|
article
|
| 10 |
Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases
|
Mary, Laura
|
|
|
65 |
2 |
p.
|
article
|
| 11 |
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A
|
Slavotinek, Anne
|
|
|
65 |
2 |
p.
|
article
|
Journal description