| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
|
Sabbagh, Quentin
|
|
|
66 |
5 |
p.
|
artikel
|
| 2 |
Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome
|
Walinga, Margreet
|
|
|
66 |
5 |
p.
|
artikel
|
| 3 |
Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome
|
Burdeus-Olavarrieta, Monica
|
|
|
66 |
5 |
p.
|
artikel
|
| 4 |
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome
|
Vitrac, Aline
|
|
|
66 |
5 |
p.
|
artikel
|
| 5 |
Editorial Board
|
|
|
|
66 |
5 |
p.
|
artikel
|
| 6 |
Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome
|
van Ravenswaaij-Arts, Conny M.A.
|
|
|
66 |
5 |
p.
|
artikel
|
| 7 |
French cohort of children and adolescents with neurofibromatosis type 1 and symptomatic inoperable plexiform neurofibromas: CASSIOPEA study
|
Wolkenstein, Pierre
|
|
|
66 |
5 |
p.
|
artikel
|
| 8 |
Genetic susceptibility in children, adolescents, and young adults diagnosed with soft-tissue sarcomas
|
Würtemberger, Julia
|
|
|
66 |
5 |
p.
|
artikel
|
| 9 |
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant
|
Helenius, Kjell
|
|
|
66 |
5 |
p.
|
artikel
|
| 10 |
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
|
Pranav Chand, Rayabarapu
|
|
|
66 |
5 |
p.
|
artikel
|
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