| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder
|
Matthews, A.M.
|
|
2017
|
60 |
10 |
p. 548-552
5 p.
|
artikel
|
| 2 |
Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families
|
Faily, Sara
|
|
2017
|
60 |
10 |
p. 527-532
6 p.
|
artikel
|
| 3 |
Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy
|
Han, Ji Yoon
|
|
2017
|
60 |
10 |
p. 559-564
6 p.
|
artikel
|
| 4 |
Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration
|
Takano, Kyoko
|
|
2017
|
60 |
10 |
p. 521-526
6 p.
|
artikel
|
| 5 |
Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis
|
van Dijk, Fleur S.
|
|
2017
|
60 |
10 |
p. 536-540
5 p.
|
artikel
|
| 6 |
Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature
|
Hamici, Sana
|
|
2017
|
60 |
10 |
p. 541-547
7 p.
|
artikel
|
| 7 |
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia
|
Hebbar, Malavika
|
|
2017
|
60 |
10 |
p. 533-535
3 p.
|
artikel
|
| 8 |
Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature
|
Valenzuela, Irene
|
|
2017
|
60 |
10 |
p. 517-520
4 p.
|
artikel
|
| 9 |
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1
|
Slavotinek, Anne
|
|
2017
|
60 |
10 |
p. 504-508
5 p.
|
artikel
|
| 10 |
Reporting practices for variants of uncertain significance from next generation sequencing technologies
|
Vears, Danya F.
|
|
2017
|
60 |
10 |
p. 553-558
6 p.
|
artikel
|
| 11 |
SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae
|
Bieganski, Tadeusz
|
|
2017
|
60 |
10 |
p. 509-516
8 p.
|
artikel
|
| 12 |
The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing
|
Han, Ji Yoon
|
|
2017
|
60 |
10 |
p. 499-503
5 p.
|
artikel
|
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