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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Download from dx.doi.orgMyhre and LAPS syndromes: Clinical and molecular review of 32 patients
Download from www.nature.comFinger creases lend a hand in Kabuki syndrome.
Download from hal.archives-ouvertes.frParental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders
Download from www.nature.comClinical and molecular spectrum of renal malformations in Kabuki syndrome
Download from www.researchgate.netFatal Rhabdomyolysis in 2 Children with LPIN1 Mutations
UploadStudy of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
UploadExome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis
Download from www.ncbi.nlm.nih.govMutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4
Download from doi.orgLPIN1 gene mutations: A major cause of severe rhabdomyolysis in early childhood
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