| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant
|
Piryaei, Fahimeh
|
|
|
66 |
8 |
p.
|
artikel
|
| 2 |
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up
|
Montomoli, Martino
|
|
|
66 |
8 |
p.
|
artikel
|
| 3 |
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia
|
Trieschmann, Gesa
|
|
|
66 |
8 |
p.
|
artikel
|
| 4 |
Disclosure of genetic risk in the family: A survey of the Flemish general population
|
Phillips, Amicia
|
|
|
66 |
8 |
p.
|
artikel
|
| 5 |
Editorial Board
|
|
|
|
66 |
8 |
p.
|
artikel
|
| 6 |
ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case
|
Grosyeux, C.
|
|
|
66 |
8 |
p.
|
artikel
|
| 7 |
First reports of fetal SMARCC1 related hydrocephalus
|
Rive Le Gouard, Nicolas
|
|
|
66 |
8 |
p.
|
artikel
|
| 8 |
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences
|
Yamada, Mamiko
|
|
|
66 |
8 |
p.
|
artikel
|
| 9 |
Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis
|
Kawai, Tomoko
|
|
|
66 |
8 |
p.
|
artikel
|
| 10 |
Jansen de Vries syndrome: Report of four new patients and review of the literature
|
Tuiskula, Anna
|
|
|
66 |
8 |
p.
|
artikel
|
| 11 |
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study
|
Koido, Kati
|
|
|
66 |
8 |
p.
|
artikel
|
| 12 |
Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome
|
Comeau, Dominique
|
|
|
66 |
8 |
p.
|
artikel
|
| 13 |
Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome – A case series from the West Midlands, UK
|
McDermott, Helen
|
|
|
66 |
8 |
p.
|
artikel
|
| 14 |
Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case
|
Semikhodskii, Andrei
|
|
|
66 |
8 |
p.
|
artikel
|
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