| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
|
Lessel, Davor
|
|
2018
|
137 |
11-12 |
p. 921-939
|
artikel
|
| 2 |
Chromosome 18 gene dosage map 2.0
|
Cody, Jannine D.
|
|
2018
|
137 |
11-12 |
p. 961-970
|
artikel
|
| 3 |
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
|
Lao, Qizong
|
|
2018
|
137 |
11-12 |
p. 955-960
|
artikel
|
| 4 |
“Gardner and Sutherland’s chromosome abnormalities and genetic counseling” by R.J. McKinlay Gardner, David J. Amor. Oxford University Press
|
Corrin, Sian
|
|
2018
|
137 |
11-12 |
p. 971
|
artikel
|
| 5 |
Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci
|
Shah, Rupal L.
|
|
2018
|
137 |
11-12 |
p. 881-896
|
artikel
|
| 6 |
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
|
Shelihan, Ivan
|
|
2018
|
137 |
11-12 |
p. 905-909
|
artikel
|
| 7 |
Mixed Blessings from a Cambridge Union, Elizabeth N Anionwu
|
Harper, Peter S.
|
|
2018
|
137 |
11-12 |
p. 973
|
artikel
|
| 8 |
RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery
|
Anand, Deepti
|
|
2018
|
137 |
11-12 |
p. 941-954
|
artikel
|
| 9 |
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy
|
Vill, Katharina
|
|
2018
|
137 |
11-12 |
p. 911-919
|
artikel
|
| 10 |
The impact of GJA8 SNPs on susceptibility to age-related cataract
|
Yu, Xiaoning
|
|
2018
|
137 |
11-12 |
p. 897-904
|
artikel
|
| 11 |
The RNA world of human ageing
|
Gomez-Verjan, J. C.
|
|
2018
|
137 |
11-12 |
p. 865-879
|
artikel
|
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