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A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome
British Library Online Contents | 2017| -
The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome
British Library Online Contents | 2017| -
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
British Library Online Contents | 2017| -
Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations
British Library Online Contents | 2017| -
Comprehensive genotyping in dyslipidemia: mendelian dyslipidemias caused by rare variants and Mendelian randomization studies using common variants
British Library Online Contents | 2017| -
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman
British Library Online Contents | 2017| -
Genome-wide association study of neovascular age-related macular degeneration in the Thai population
British Library Online Contents | 2017| -
The absence that makes the difference: choroidal abnormalities in Legius syndrome
British Library Online Contents | 2017| -
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
British Library Online Contents | 2017| -
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome
British Library Online Contents | 2017| -
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
British Library Online Contents | 2017| -
Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1
British Library Online Contents | 2017| -
Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia
British Library Online Contents | 2017| -
Prevalence of four Mendelian disorders associated with autism in 2392 affected families
British Library Online Contents | 2017| -
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
British Library Online Contents | 2017| -
A partial nuclear genome of the Jomons who lived 3000 years ago in Fukushima, Japan
British Library Online Contents | 2017| -
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
British Library Online Contents | 2017|
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