| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Alkaptonuria in Russia: mutational spectrum and novel variants
|
Bychkov, Igor
|
|
|
64 |
4 |
p.
|
artikel
|
| 2 |
Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature
|
Biard, Jean-Marc
|
|
|
64 |
4 |
p.
|
artikel
|
| 3 |
A rare case of an NLRP12-associated autoinflammatory disease
|
Ayla, Ali Y.
|
|
|
64 |
4 |
p.
|
artikel
|
| 4 |
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis
|
Knapp, Karen M.
|
|
|
64 |
4 |
p.
|
artikel
|
| 5 |
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
|
Angelini, Chloé
|
|
|
64 |
4 |
p.
|
artikel
|
| 6 |
Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants
|
Nielsen, Marlene L.
|
|
|
64 |
4 |
p.
|
artikel
|
| 7 |
Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report
|
Henige, Hannah
|
|
|
64 |
4 |
p.
|
artikel
|
| 8 |
CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies
|
Koprulu, Mine
|
|
|
64 |
4 |
p.
|
artikel
|
| 9 |
Editorial Board
|
|
|
|
64 |
4 |
p.
|
artikel
|
| 10 |
Enlarged spinal nerve roots in RASopathies: Report of two cases
|
Leoni, Chiara
|
|
|
64 |
4 |
p.
|
artikel
|
| 11 |
Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study
|
Kaya Akca, Ummusen
|
|
|
64 |
4 |
p.
|
artikel
|
| 12 |
Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome
|
Ergun, Ufuk
|
|
|
64 |
4 |
p.
|
artikel
|
| 13 |
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations
|
Coursimault, Juliette
|
|
|
64 |
4 |
p.
|
artikel
|
| 14 |
Letter regarding the article “two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability” (Isidor et al., 2015)
|
Latypova, Xenia
|
|
|
64 |
4 |
p.
|
artikel
|
| 15 |
‘More than a box of puzzles’: Understanding the parental experience of having a child with a rare genetic condition"
|
Fitzgerald, Jacqueline
|
|
|
64 |
4 |
p.
|
artikel
|
| 16 |
Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele
|
Gómez-González, Clara
|
|
|
64 |
4 |
p.
|
artikel
|
| 17 |
The contribution of Xp22.31 gene dosage to Turner and Klinefelter syndromes and sex-biased phenotypes
|
Davies, William
|
|
|
64 |
4 |
p.
|
artikel
|
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