| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension
|
Alazami, Anas M.
|
|
2018
|
138 |
1 |
p. 105-107
|
artikel
|
| 2 |
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes
|
Umeki, Ikumi
|
|
2018
|
138 |
1 |
p. 21-35
|
artikel
|
| 3 |
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
|
Smits, Jeroen J.
|
|
2018
|
138 |
1 |
p. 61-72
|
artikel
|
| 4 |
Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome
|
Dantas, Anelisa Gollo
|
|
2019
|
138 |
1 |
p. 93-103
|
artikel
|
| 5 |
Genetic association and differential expression of PITX2 with acute appendicitis
|
Orlova, Ekaterina
|
|
2018
|
138 |
1 |
p. 37-47
|
artikel
|
| 6 |
The contribution of parent-to-offspring transmission of telomeres to the heritability of telomere length in humans
|
Delgado, Dayana A.
|
|
2018
|
138 |
1 |
p. 49-60
|
artikel
|
| 7 |
Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions
|
Summerer, Anna
|
|
2018
|
138 |
1 |
p. 73-81
|
artikel
|
| 8 |
Ways of improving precise knock-in by genome-editing technologies
|
Smirnikhina, Svetlana A.
|
|
2018
|
138 |
1 |
p. 1-19
|
artikel
|
| 9 |
Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype–phenotype correlations
|
Wang, Qiqi
|
|
2019
|
138 |
1 |
p. 83-92
|
artikel
|
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