| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition
|
Shaheen, Ranad
|
|
2016
|
135 |
7 |
p. 707-713
|
artikel
|
| 2 |
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability
|
Labonne, Jonathan D. J.
|
|
2016
|
135 |
7 |
p. 757-771
|
artikel
|
| 3 |
Anchored pseudo-de novo assembly of human genomes identifies extensive sequence variation from unmapped sequence reads
|
Faber-Hammond, Joshua J.
|
|
2016
|
135 |
7 |
p. 727-740
|
artikel
|
| 4 |
A null mutation in TNIK defines a novel locus for intellectual disability
|
Anazi, Shams
|
|
2016
|
135 |
7 |
p. 773-778
|
artikel
|
| 5 |
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer
|
Kang, James J.
|
|
2016
|
135 |
7 |
p. 675-684
|
artikel
|
| 6 |
Assessing the genetic architecture of epithelial ovarian cancer histological subtypes
|
Cuellar-Partida, Gabriel
|
|
2016
|
135 |
7 |
p. 741-756
|
artikel
|
| 7 |
Biological findings from the PheWAS catalog: focus on connective tissue-related disorders (pelvic floor dysfunction, abdominal hernia, varicose veins and hemorrhoids)
|
Salnikova, Lyubov E.
|
|
2016
|
135 |
7 |
p. 779-795
|
artikel
|
| 8 |
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
|
Okur, Volkan
|
|
2016
|
135 |
7 |
p. 699-705
|
artikel
|
| 9 |
Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy
|
Viggiano, Emanuela
|
|
2016
|
135 |
7 |
p. 685-698
|
artikel
|
| 10 |
Exploiting aberrant mRNA expression in autism for gene discovery and diagnosis
|
Guan, Jinting
|
|
2016
|
135 |
7 |
p. 797-811
|
artikel
|
| 11 |
FCGR3A and FCGR3B copy number variations are risk factors for sarcoidosis
|
Wu, Jianming
|
|
2016
|
135 |
7 |
p. 715-725
|
artikel
|
| 12 |
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients
|
Jakubiczka-Smorag, Joanna
|
|
2016
|
135 |
7 |
p. 813-826
|
artikel
|
| 13 |
Multivariate eQTL mapping uncovers functional variation on the X-chromosome associated with complex disease traits
|
Brumpton, Ben M.
|
|
2016
|
135 |
7 |
p. 827-839
|
artikel
|
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