| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review
|
Manoochehri, Jamal
|
|
|
65 |
8 |
p.
|
artikel
|
| 2 |
Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series
|
Kisla Ekinci, Rabia Miray
|
|
|
65 |
8 |
p.
|
artikel
|
| 3 |
Editorial Board
|
|
|
|
65 |
8 |
p.
|
artikel
|
| 4 |
Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient
|
Nolan, D.K.
|
|
|
65 |
8 |
p.
|
artikel
|
| 5 |
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
|
Marais, Anett
|
|
|
65 |
8 |
p.
|
artikel
|
| 6 |
Genetic and clinical profile of patients with hypophosphatemic rickets
|
Marik, Binata
|
|
|
65 |
8 |
p.
|
artikel
|
| 7 |
Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review
|
Ehsani, Elham
|
|
|
65 |
8 |
p.
|
artikel
|
| 8 |
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling
|
Hidalgo Mayoral, Irene
|
|
|
65 |
8 |
p.
|
artikel
|
| 9 |
Pre-visit Concerns: What caregivers hope to address at a specialty clinic for Down syndrome
|
Cabrera, Maria J.
|
|
|
65 |
8 |
p.
|
artikel
|
| 10 |
Sedaghatian spondylometaphyseal dysplasia in two siblings
|
Peshimam, Niha
|
|
|
65 |
8 |
p.
|
artikel
|
| 11 |
Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant
|
Sero, Leyla
|
|
|
65 |
8 |
p.
|
artikel
|
| 12 |
The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?
|
Zuffardi, Orsetta
|
|
|
65 |
8 |
p.
|
artikel
|
| 13 |
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance
|
Louise M Binderup, Marie
|
|
|
65 |
8 |
p.
|
artikel
|
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