| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy
|
Daşar, Tuğba
|
|
|
65 |
12 |
p.
|
artikel
|
| 2 |
Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384
|
Amadori, Elisabetta
|
|
|
65 |
12 |
p.
|
artikel
|
| 3 |
A patient with mosaic USP9X gene variant
|
Barili, Valeria
|
|
|
65 |
12 |
p.
|
artikel
|
| 4 |
A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers
|
Begemann, Anaïs
|
|
|
65 |
12 |
p.
|
artikel
|
| 5 |
Congenital diaphragmatic eventration with pulmonary dysplasia in Frasier syndrome due to a WT1 mutation of c.1432+5(IVS9)G>A
|
Zhang, Bo
|
|
|
65 |
12 |
p.
|
artikel
|
| 6 |
Editorial Board
|
|
|
|
65 |
12 |
p.
|
artikel
|
| 7 |
Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022)
|
Gazulla, José
|
|
|
65 |
12 |
p.
|
artikel
|
| 8 |
Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor
|
Aycan, Zehra
|
|
|
65 |
12 |
p.
|
artikel
|
| 9 |
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
|
Hendricks, Linda A.J.
|
|
|
65 |
12 |
p.
|
artikel
|
| 10 |
Hydranencephaly in CENPJ-related Seckel syndrome
|
Cuccurullo, Claudia
|
|
|
65 |
12 |
p.
|
artikel
|
| 11 |
Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome
|
Zepeda-Romero, Luz Consuelo
|
|
|
65 |
12 |
p.
|
artikel
|
| 12 |
Lactase persistence phenotype and genotype in Iranian Mazani-Shahmirzadi and Afghan Hazara ethnicities
|
Rajabloo, Servin
|
|
|
65 |
12 |
p.
|
artikel
|
| 13 |
Marked hypotonia: An additional feature of ANO3-related movement disorder
|
Santens, Patrick
|
|
|
65 |
12 |
p.
|
artikel
|
| 14 |
Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN)
|
Devoogdt, Nele
|
|
|
65 |
12 |
p.
|
artikel
|
| 15 |
SCN2A and arrhythmia: A potential correlation? A case report and literature review
|
Tzialla, Chryssoula
|
|
|
65 |
12 |
p.
|
artikel
|
| 16 |
Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation
|
Otaify, Ghada A.
|
|
|
65 |
12 |
p.
|
artikel
|
| 17 |
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability
|
Ait-El-Mkadem Saadi, Samira
|
|
|
65 |
12 |
p.
|
artikel
|
| 18 |
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes
|
Gokce-Samar, Z.
|
|
|
65 |
12 |
p.
|
artikel
|
| 19 |
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation
|
Redin, Claire
|
|
|
65 |
12 |
p.
|
artikel
|
| 20 |
The VASCERN-VASCA working group diagnostic and management pathways for lymphatic malformations
|
Ghaffarpour, Nader
|
|
|
65 |
12 |
p.
|
artikel
|
| 21 |
Townes-Brocks syndrome with craniosynostosis in two siblings
|
Lugli, Licia
|
|
|
65 |
12 |
p.
|
artikel
|
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