| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients
|
Sabry, Sahar
|
|
|
65 |
10 |
p.
|
artikel
|
| 2 |
A chromoanagenesis-driven ultra-complex t(5;7;21)dn truncates neurodevelopmental genes in a disabled boy as revealed by whole-genome sequencing
|
Córdova-Fletes, Carlos
|
|
|
65 |
10 |
p.
|
artikel
|
| 3 |
Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK
|
Schirwani, Schaida
|
|
|
65 |
10 |
p.
|
artikel
|
| 4 |
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth–Lazarus syndrome
|
Sarma, Asodu Sandeep
|
|
|
65 |
10 |
p.
|
artikel
|
| 5 |
A novel homozygous variant in the GLI1 underlies postaxial polydactyly in a large consanguineous family with intra familial variable phenotypes
|
Bakar, Abu
|
|
|
65 |
10 |
p.
|
artikel
|
| 6 |
Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias
|
Biji, Ishpreet K.
|
|
|
65 |
10 |
p.
|
artikel
|
| 7 |
Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo
|
Aquaron, Robert
|
|
|
65 |
10 |
p.
|
artikel
|
| 8 |
De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity
|
Johannesen, Katrine M.
|
|
|
65 |
10 |
p.
|
artikel
|
| 9 |
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth
|
Schönewolf-Greulich, Bitten
|
|
|
65 |
10 |
p.
|
artikel
|
| 10 |
Editorial Board
|
|
|
|
65 |
10 |
p.
|
artikel
|
| 11 |
EIF4ENIF1 variants in two patients with non-syndromic premature ovarian insufficiency
|
Shang, Lingyue
|
|
|
65 |
10 |
p.
|
artikel
|
| 12 |
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia
|
Courdier, Cécile
|
|
|
65 |
10 |
p.
|
artikel
|
| 13 |
European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?
|
Dupuis-Girod, Sophie
|
|
|
65 |
10 |
p.
|
artikel
|
| 14 |
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex
|
Ng, Samuel YL.
|
|
|
65 |
10 |
p.
|
artikel
|
| 15 |
NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination
|
Ijaz, Ambreen
|
|
|
65 |
10 |
p.
|
artikel
|
| 16 |
Phenotype of COL3A1/COL5A2 deletion patients
|
Kempers, Marlies JE.
|
|
|
65 |
10 |
p.
|
artikel
|
| 17 |
STAC3 related congenital myopathy: A case series of seven Comorian patients
|
Gromand, Marie
|
|
|
65 |
10 |
p.
|
artikel
|
| 18 |
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome
|
Jones, Gabriela
|
|
|
65 |
10 |
p.
|
artikel
|
| 19 |
Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation
|
Higashiyama, Hiroyuki
|
|
|
65 |
10 |
p.
|
artikel
|
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