| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acute lymphoblastic leukemia in a child with Weiss-Kruszka syndrome: Casual or causal association?
|
Pellino, Giuditta
|
|
|
65 |
4 |
p.
|
artikel
|
| 2 |
A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome
|
Jiao, Zhihui
|
|
|
65 |
4 |
p.
|
artikel
|
| 3 |
A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay
|
Al-Kurbi, Alya A.
|
|
|
65 |
4 |
p.
|
artikel
|
| 4 |
ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature
|
Dembour, Alexis
|
|
|
65 |
4 |
p.
|
artikel
|
| 5 |
Could distal variants in ALG13 lead to atypical clinical presentation?
|
Accogli, Andrea
|
|
|
65 |
4 |
p.
|
artikel
|
| 6 |
Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients
|
Masson, Julie
|
|
|
65 |
4 |
p.
|
artikel
|
| 7 |
Editorial Board
|
|
|
|
65 |
4 |
p.
|
artikel
|
| 8 |
Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review
|
Batey, Natalie
|
|
|
65 |
4 |
p.
|
artikel
|
| 9 |
Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy
|
Amadori, Elisabetta
|
|
|
65 |
4 |
p.
|
artikel
|
| 10 |
Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects
|
Baker, Emma K.
|
|
|
65 |
4 |
p.
|
artikel
|
| 11 |
Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance
|
Castillo-Guardiola, Verónica
|
|
|
65 |
4 |
p.
|
artikel
|
| 12 |
Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years
|
Ho, Stephanie KL.
|
|
|
65 |
4 |
p.
|
artikel
|
| 13 |
Sex-linked genetic mechanisms and atrial fibrillation risk
|
Wren, Georgina
|
|
|
65 |
4 |
p.
|
artikel
|
| 14 |
TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness
|
Maasz, Anita
|
|
|
65 |
4 |
p.
|
artikel
|
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