| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An European overview of genetic counselling supervision provision
|
Paneque, Milena
|
|
|
66 |
4 |
p.
|
artikel
|
| 2 |
A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings
|
Santos-Rebouças, Cíntia B.
|
|
|
66 |
4 |
p.
|
artikel
|
| 3 |
Editorial Board
|
|
|
|
66 |
4 |
p.
|
artikel
|
| 4 |
European standard clinical practice – Key issues for the medical care of individuals with familial leukemia
|
Förster, Alisa
|
|
|
66 |
4 |
p.
|
artikel
|
| 5 |
Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?
|
Blum, Katalin LML.
|
|
|
66 |
4 |
p.
|
artikel
|
| 6 |
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients
|
Hamad, Asma
|
|
|
66 |
4 |
p.
|
artikel
|
| 7 |
Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia
|
Wagener, Rabea
|
|
|
66 |
4 |
p.
|
artikel
|
| 8 |
Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome
|
Leung, Marco L.
|
|
|
66 |
4 |
p.
|
artikel
|
| 9 |
Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patients with overweight and obesity
|
Manco, Licínio
|
|
|
66 |
4 |
p.
|
artikel
|
| 10 |
NID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations
|
Dietvorst, Sofie
|
|
|
66 |
4 |
p.
|
artikel
|
| 11 |
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients
|
Akalın, Akçahan
|
|
|
66 |
4 |
p.
|
artikel
|
| 12 |
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review
|
Shafieipour, Negin
|
|
|
66 |
4 |
p.
|
artikel
|
| 13 |
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism
|
van Renterghem, Victoria
|
|
|
66 |
4 |
p.
|
artikel
|
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