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                             17 results found
no title author magazine year volume issue page(s) type
1 Alkaptonuria in Russia: mutational spectrum and novel variants Bychkov, Igor

64 4 p.
article
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.
article
3 A rare case of an NLRP12-associated autoinflammatory disease Ayla, Ali Y.

64 4 p.
article
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.
article
5 CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease Angelini, Chloé

64 4 p.
article
6 Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants Nielsen, Marlene L.

64 4 p.
article
7 Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report Henige, Hannah

64 4 p.
article
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.
article
9 Editorial Board
64 4 p.
article
10 Enlarged spinal nerve roots in RASopathies: Report of two cases Leoni, Chiara

64 4 p.
article
11 Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective study Kaya Akca, Ummusen

64 4 p.
article
12 Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome Ergun, Ufuk

64 4 p.
article
13 Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations Coursimault, Juliette

64 4 p.
article
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.
article
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.
article
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.
article
17 The contribution of Xp22.31 gene dosage to Turner and Klinefelter syndromes and sex-biased phenotypes Davies, William

64 4 p.
article
                             17 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands