| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Associated anomalies in anophthalmia and microphthalmia
|
Stoll, Claude
|
|
|
67 |
C |
p.
|
artikel
|
| 2 |
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant
|
Seiersen, Kasper V.
|
|
|
67 |
C |
p.
|
artikel
|
| 3 |
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
|
Harkness, J. Robert
|
|
|
67 |
C |
p.
|
artikel
|
| 4 |
Defining priorities in the transition from paediatric to adult healthcare for rare bone disease patients: a dialogic approach
|
Scognamiglio, D.
|
|
|
67 |
C |
p.
|
artikel
|
| 5 |
Evaluating ClinGen variant curation expert panels' application of PVS1 code
|
Wang, Xiaoyan
|
|
|
67 |
C |
p.
|
artikel
|
| 6 |
Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome
|
Di Caprio, Antonella
|
|
|
67 |
C |
p.
|
artikel
|
| 7 |
Genetic counselling supervision: Luxury or necessity? A qualitative study with genetic healthcare professionals in Portugal
|
Guimarães, Lídia
|
|
|
67 |
C |
p.
|
artikel
|
| 8 |
GRM7-related disorder: five additional patients from three independent families and review of the literature
|
Januel, Louis
|
|
|
67 |
C |
p.
|
artikel
|
| 9 |
Letter to the Editor: Comment to Diderich et al. “The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis” (EJMG 66(10),104844)
|
Chen, Fang
|
|
|
67 |
C |
p.
|
artikel
|
| 10 |
LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17
|
Al Jabry, Tariq
|
|
|
67 |
C |
p.
|
artikel
|
| 11 |
New description of an MRPS2 homozygous patient: Further features to help expend the phenotype
|
Papadopoulos, Thalia
|
|
|
67 |
C |
p.
|
artikel
|
| 12 |
Pathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature
|
Moroni, Alice
|
|
|
67 |
C |
p.
|
artikel
|
| 13 |
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature
|
Sonoda, Yuri
|
|
|
67 |
C |
p.
|
artikel
|
| 14 |
Response to the comment on Diderich et al. “The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis” (EJMG 66(10),104844)
|
Diderich, Karin E.M.
|
|
|
67 |
C |
p.
|
artikel
|
| 15 |
Secondary physical features in children with FASD
|
del Campo, Miguel
|
|
|
67 |
C |
p.
|
artikel
|
| 16 |
The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema
|
Devoogdt, Nele
|
|
|
67 |
C |
p.
|
artikel
|
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