| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2
|
Li, Dongxiao
|
|
2017
|
60 |
12 |
p. 685-689
5 p.
|
artikel
|
| 2 |
A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome
|
Nakanishi, Keita
|
|
2017
|
60 |
12 |
p. 631-634
4 p.
|
artikel
|
| 3 |
A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis
|
Kisla Ekinci, Rabia Miray
|
|
2017
|
60 |
12 |
p. 690-694
5 p.
|
artikel
|
| 4 |
Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation
|
Kantaputra, Piranit Nik
|
|
2017
|
60 |
12 |
p. 695-700
6 p.
|
artikel
|
| 5 |
A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family
|
Abdullah, Uzma
|
|
2017
|
60 |
12 |
p. 627-630
4 p.
|
artikel
|
| 6 |
Case report: Left ventricular noncompaction cardiomyopathy and RASopathies
|
Sublett, Juli Ann
|
|
2017
|
60 |
12 |
p. 680-684
5 p.
|
artikel
|
| 7 |
Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting
|
Villela, Darine
|
|
2017
|
60 |
12 |
p. 667-674
8 p.
|
artikel
|
| 8 |
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature
|
Antony, Dinu
|
|
2017
|
60 |
12 |
p. 658-666
9 p.
|
artikel
|
| 9 |
Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly
|
Shimojima, Keiko
|
|
2017
|
60 |
12 |
p. 650-654
5 p.
|
artikel
|
| 10 |
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder
|
Cappuccio, Gerarda
|
|
2017
|
60 |
12 |
p. 655-657
3 p.
|
artikel
|
| 11 |
High bone mass due to novel LRP5 and AMER1 mutations
|
Costantini, Alice
|
|
2017
|
60 |
12 |
p. 675-679
5 p.
|
artikel
|
| 12 |
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation
|
Dard, Rodolphe
|
|
2017
|
60 |
12 |
p. 639-642
4 p.
|
artikel
|
| 13 |
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica
|
Takeda, Ryojun
|
|
2017
|
60 |
12 |
p. 635-638
4 p.
|
artikel
|
| 14 |
The spectrum of Familial Mediterranean Fever gene (MEFV) mutations and genotypes in Iran, and report of a novel missense variant (R204H)
|
Ebadi, Nader
|
|
2017
|
60 |
12 |
p. 701-705
5 p.
|
artikel
|
| 15 |
Very early onset inflammatory bowel disease: Investigation of the IL-10 signaling pathway in Iranian children
|
Nemati, Shahram
|
|
2017
|
60 |
12 |
p. 643-649
7 p.
|
artikel
|
Tijdschrift beschrijving