| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD)
|
Jazayeri, Omid
|
|
2015
|
58 |
12 |
p. 642-649
8 p.
|
artikel
|
| 2 |
A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred
|
Pode-Shakked, Ben
|
|
2015
|
58 |
12 |
p. 685-688
4 p.
|
artikel
|
| 3 |
Associated congenital anomalies among cases with Down syndrome
|
Stoll, Claude
|
|
2015
|
58 |
12 |
p. 674-680
7 p.
|
artikel
|
| 4 |
Carrier testing in children and adolescents
|
Vears, Danya F.
|
|
2015
|
58 |
12 |
p. 659-667
9 p.
|
artikel
|
| 5 |
Enzymatic diagnosis of Fabry disease using a fluorometric assay on dried blood spots: An alternative methodology
|
Caudron, Eric
|
|
2015
|
58 |
12 |
p. 681-684
4 p.
|
artikel
|
| 6 |
Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay
|
Capo-Chichi, José-Mario
|
|
2015
|
58 |
12 |
p. 637-641
5 p.
|
artikel
|
| 7 |
New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings
|
Kotlar, Alex V.
|
|
2015
|
58 |
12 |
p. 704-714
11 p.
|
artikel
|
| 8 |
Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders
|
Ropers, H. Hilger
|
|
2015
|
58 |
12 |
p. 715-718
4 p.
|
artikel
|
| 9 |
Spinal muscular atrophy type III: Molecular genetic characterization of Turkish patients
|
Bora-Tatar, Gamze
|
|
2015
|
58 |
12 |
p. 654-658
5 p.
|
artikel
|
| 10 |
Study of the association of IL-1β and IL-1RA gene polymorphisms with occurrence and severity of Familial Mediterranean fever
|
Ibrahim, José-Noel
|
|
2015
|
58 |
12 |
p. 668-673
6 p.
|
artikel
|
| 11 |
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes
|
Ece Solmaz, Asli
|
|
2015
|
58 |
12 |
p. 689-694
6 p.
|
artikel
|
| 12 |
TGF-β signalopathies as a paradigm for translational medicine
|
Cannaerts, Elyssa
|
|
2015
|
58 |
12 |
p. 695-703
9 p.
|
artikel
|
| 13 |
Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family
|
Duong, Linh T.T.
|
|
2015
|
58 |
12 |
p. 650-653
4 p.
|
artikel
|
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