| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A de novo 921 Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors
|
Yuan, Haiming
|
|
2018
|
61 |
10 |
p. 607-611
|
artikel
|
| 2 |
Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants
|
Austin-Tse, Christina A.
|
|
2018
|
61 |
10 |
p. 621-626
|
artikel
|
| 3 |
An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1)
|
Wu, Shuiyan
|
|
2018
|
61 |
10 |
p. 602-606
|
artikel
|
| 4 |
Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion
|
Kiyota, Kyoko
|
|
2018
|
61 |
10 |
p. 631-633
|
artikel
|
| 5 |
Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?
|
Invernizzi, Federica
|
|
2018
|
61 |
10 |
p. 581-584
|
artikel
|
| 6 |
Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum
|
Bayat, Allan
|
|
2018
|
61 |
10 |
p. 627-630
|
artikel
|
| 7 |
Editorial Board
|
|
|
2018
|
61 |
10 |
p. ii
|
artikel
|
| 8 |
Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7
|
Costantini, Alice
|
|
2018
|
61 |
10 |
p. 612-615
|
artikel
|
| 9 |
Is it research or is it clinical? Revisiting an old frontier through the lens of next-generation sequencing technologies
|
Bertier, Gabrielle
|
|
2018
|
61 |
10 |
p. 634-641
|
artikel
|
| 10 |
Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases
|
Lêdo, Susana
|
|
2018
|
61 |
10 |
p. 575-580
|
artikel
|
| 11 |
MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease
|
Rips, Jonathan
|
|
2018
|
61 |
10 |
p. 616-620
|
artikel
|
| 12 |
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
|
Bonnard, Carine
|
|
2018
|
61 |
10 |
p. 585-595
|
artikel
|
| 13 |
Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15
|
Pesz, Karolina
|
|
2018
|
61 |
10 |
p. 596-601
|
artikel
|
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