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Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Scattered Deletion of PKD1 in Kidneys Causes a Cystic Snowball Effect and Recapitulates Polycystic Kidney Disease
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA
Duchenne/Becker in the family: are women aware of the potential risks?
Genetic variation of DKK3 may modify renal disease severity in ADPKD
RARE STRUCTURAL GENOMIC VARIANTS IN NONSYNDROMIC EPILEPTIC ENCEPHALOPATHIES WITH AND WITHOUT MRI- DETECTABLE STRUCTURAL BRAIN ABNORMALITIES
Boekbespreking van: International Cooperation between Politics and Practice: How Dutch Cooperation Changed Remarkably Little after a Diplomatic Rupture
Foreign Policy in America’s Backyard: Dutch and American Responses to the December 8th Murders in Suriname
Why give foreign aid? Decision maker perceptions of the benefits to the donor state