| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax
|
De la Torre-García, Oliver
|
|
2019
|
62 |
3 |
p. 195-197
|
artikel
|
| 2 |
Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease
|
Albanyan, Saleh
|
|
2019
|
62 |
3 |
p. 177-181
|
artikel
|
| 3 |
Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum
|
Burgemeister, Anna L.
|
|
2019
|
62 |
3 |
p. 210-216
|
artikel
|
| 4 |
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations
|
Accogli, Andrea
|
|
2019
|
62 |
3 |
p. 198-203
|
artikel
|
| 5 |
Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy
|
Chaussade, Amélie
|
|
2019
|
62 |
3 |
p. 217-223
|
artikel
|
| 6 |
Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder
|
Greenbaum, Lior
|
|
2019
|
62 |
3 |
p. 167-171
|
artikel
|
| 7 |
Editorial Board
|
|
|
2019
|
62 |
3 |
p. ii
|
artikel
|
| 8 |
Further delineation of the phenotype caused by loss of function mutations in PRMT7
|
Valenzuela, Irene
|
|
2019
|
62 |
3 |
p. 182-185
|
artikel
|
| 9 |
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
|
Imbert-Bouteille, Marion
|
|
2019
|
62 |
3 |
p. 161-166
|
artikel
|
| 10 |
Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia
|
Wang, Zhangyang
|
|
2019
|
62 |
3 |
p. 190-194
|
artikel
|
| 11 |
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families
|
Al Shehhi, Maryam
|
|
2019
|
62 |
3 |
p. 204-209
|
artikel
|
| 12 |
Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14
|
Miura, Shiroh
|
|
2019
|
62 |
3 |
p. 172-176
|
artikel
|
| 13 |
Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency
|
França, Monica M.
|
|
2019
|
62 |
3 |
p. 186-189
|
artikel
|
| 14 |
Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy
|
Kawai, Miki
|
|
2019
|
62 |
3 |
p. 224-228
|
artikel
|
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