| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature
|
Lugli, Licia
|
|
|
65 |
9 |
p.
|
artikel
|
| 2 |
Catatonic syndrome and Baraitser Winter syndrome: Case report and review of the literature
|
Diab, E.
|
|
|
65 |
9 |
p.
|
artikel
|
| 3 |
Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene
|
Coursimault, Juliette
|
|
|
65 |
9 |
p.
|
artikel
|
| 4 |
Editorial Board
|
|
|
|
65 |
9 |
p.
|
artikel
|
| 5 |
Genetic causes of rare and common epilepsies: What should the epileptologist know?
|
Lesca, Gaetan
|
|
|
65 |
9 |
p.
|
artikel
|
| 6 |
Genetic testing in adult survivors of retinoblastoma in Denmark: A study of the experience and impact of genetic testing many years after initial diagnosis
|
Gregersen, Pernille A.
|
|
|
65 |
9 |
p.
|
artikel
|
| 7 |
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability
|
Liu, Jing
|
|
|
65 |
9 |
p.
|
artikel
|
| 8 |
Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation
|
McDermott, Helen
|
|
|
65 |
9 |
p.
|
artikel
|
| 9 |
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
|
van de Laar, Ingrid M.B.H.
|
|
|
65 |
9 |
p.
|
artikel
|
| 10 |
Tetrahydrobiopterin responsiveness in Phenylalanine hydroxylase deficient patients from North-east of Iran: Genotype-phenotype correlation, identification of a novel mutation and 7 new responsive genotypes
|
Khaghani, Faeze
|
|
|
65 |
9 |
p.
|
artikel
|
| 11 |
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services
|
Stutterd, C.A.
|
|
|
65 |
9 |
p.
|
artikel
|
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