| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature
|
Bourque, Danielle K.
|
|
2018
|
61 |
2 |
p. 89-93
|
artikel
|
| 2 |
A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome
|
Maltese, Paolo E.
|
|
2018
|
61 |
2 |
p. 79-83
|
artikel
|
| 3 |
A rapid scoring tool to assess mutation probability in patients with inherited cardiac disorders
|
Zentner, Dominica
|
|
2018
|
61 |
2 |
p. 61-67
|
artikel
|
| 4 |
Bloom syndrome does not always present with sun-sensitive facial erythema
|
Bouman, Arjan
|
|
2018
|
61 |
2 |
p. 94-97
|
artikel
|
| 5 |
Comment to the manuscript by Bacalhau et al. on “In silico prediction is insufficient to assess pathogenicity of mtDNA variants”
|
Finsterer, Josef
|
|
2018
|
61 |
2 |
p. 98-99
|
artikel
|
| 6 |
Editorial Board
|
|
|
2018
|
61 |
2 |
p. ii
|
artikel
|
| 7 |
Epigenetic changes in mesenchymal stem cells differentiation
|
Mortada, Ibrahim
|
|
2018
|
61 |
2 |
p. 114-118
|
artikel
|
| 8 |
“Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)” turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations
|
Linhares, Natália D.
|
|
2018
|
61 |
2 |
p. 106
|
artikel
|
| 9 |
Familial early-onset deep venous thrombosis associated with a novel HRG mutation
|
Luo, Junfu
|
|
2018
|
61 |
2 |
p. 68-71
|
artikel
|
| 10 |
Genetics of clubfoot; recent progress and future perspectives
|
Basit, Sulman
|
|
2018
|
61 |
2 |
p. 107-113
|
artikel
|
| 11 |
Letter regarding the article: “Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of “thyroid-checked” controls” by Kern et al.
|
Colombo, Carla
|
|
2018
|
61 |
2 |
p. 104-105
|
artikel
|
| 12 |
Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability
|
Radha Rama Devi, A.
|
|
2018
|
61 |
2 |
p. 100-103
|
artikel
|
| 13 |
4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features
|
Vande Perre, P.
|
|
2018
|
61 |
2 |
p. 72-78
|
artikel
|
| 14 |
THSD7A-associated membranous nephropathy in a patient with neurofibromatosis type 1
|
Lin, Fujun
|
|
2018
|
61 |
2 |
p. 84-88
|
artikel
|
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