| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation
|
Gutierrez-Rodrigues, Fernanda
|
|
|
138 |
11-12 |
p. 1323-1330
|
artikel
|
| 2 |
Arteriovenous malformation associated with a HRAS mutation
|
Konczyk, Dennis J.
|
|
|
138 |
11-12 |
p. 1419-1421
|
artikel
|
| 3 |
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype
|
Szafranski, Przemyslaw
|
|
|
138 |
11-12 |
p. 1301-1311
|
artikel
|
| 4 |
Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder
|
Okur, Volkan
|
|
|
138 |
11-12 |
p. 1259-1266
|
artikel
|
| 5 |
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus
|
Moisan, Stéphanie
|
|
|
138 |
11-12 |
p. 1275-1286
|
artikel
|
| 6 |
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
|
Llaci, Lorida
|
|
|
138 |
11-12 |
p. 1409-1417
|
artikel
|
| 7 |
CRISPR/Cas9 facilitates genomic editing for large-scale functional studies in pluripotent stem cell cultures
|
Li, Xiao-Fei
|
|
|
138 |
11-12 |
p. 1217-1225
|
artikel
|
| 8 |
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
|
Horga, Alejandro
|
|
|
138 |
11-12 |
p. 1313-1322
|
artikel
|
| 9 |
First genome-wide association study of non-severe malaria in two birth cohorts in Benin
|
Milet, Jacqueline
|
|
|
138 |
11-12 |
p. 1341-1357
|
artikel
|
| 10 |
High-throughput transcriptome analysis reveals that the loss of Pten activates a novel NKX6-1/RASGRP1 regulatory module to rescue microphthalmia caused by Fgfr2-deficient lenses
|
Padula, Stephanie L.
|
|
|
138 |
11-12 |
p. 1391-1407
|
artikel
|
| 11 |
Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks
|
Salokannel, Marjut
|
|
|
138 |
11-12 |
p. 1287-1299
|
artikel
|
| 12 |
Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks
|
Salokannel, Marjut
|
|
|
138 |
11-12 |
p. 1287-1299
|
artikel
|
| 13 |
Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks
|
Salokannel, Marjut
|
|
|
138 |
11-12 |
p. 1287-1299
|
artikel
|
| 14 |
Long-read sequencing in deciphering human genetics to a greater depth
|
Midha, Mohit K.
|
|
|
138 |
11-12 |
p. 1201-1215
|
artikel
|
| 15 |
MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy
|
Broeks, Melissa H.
|
|
|
138 |
11-12 |
p. 1247-1257
|
artikel
|
| 16 |
Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis
|
Fonseca, Dora Janeth
|
|
|
138 |
11-12 |
p. 1267-1274
|
artikel
|
| 17 |
Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma
|
Su, Shih-Chi
|
|
|
138 |
11-12 |
p. 1379-1389
|
artikel
|
| 18 |
Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses
|
Lillo, Antonella De
|
|
|
138 |
11-12 |
p. 1331-1340
|
artikel
|
| 19 |
Rare variants in FANCA induce premature ovarian insufficiency
|
Yang, Xi
|
|
|
138 |
11-12 |
p. 1227-1236
|
artikel
|
| 20 |
The genetic landscape of the human solute carrier (SLC) transporter superfamily
|
Schaller, Lena
|
|
|
138 |
11-12 |
p. 1359-1377
|
artikel
|
| 21 |
Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia
|
Milne, Richard
|
|
|
138 |
11-12 |
p. 1237-1246
|
artikel
|
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