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Human Mutation|September 16, 2020
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published casesXimena Montenegro-Garreaud, Adam W Hansen, Michael M Khayat, et al.Human Mutation|October 30, 2019
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegiaCarmel G McCullough, Szabolcs Szelinger, Newell Belnap, et al.Human Mutation|September 1, 2005
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese originL Vilarinho, M L Cardoso, P Gaspar, et al.Human Mutation|September 1, 2005
Mutations in the holocarboxylase synthetase gene HLCSYoichi Suzuki, Xue Yang, Yoko Aoki, et al.Human Mutation|October 8, 2005
Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer familiesA A Tesoriero, E M Wong, M A Jenkins, et al.Human Mutation|October 8, 2005
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyriaElena Pischik, Susanna Mehtälä, Raili KauppinenHuman Mutation|October 8, 2005
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotypeMarc Trimborn, Reyk Richter, Nadine Sternberg, et al.Human Mutation|October 8, 2005
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemiaDelphine Allard, Sabine Amsellem, Marianne Abifadel, et al.Human Mutation|May 18, 2006
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patientsGaëtan Lesca, Nelly Burnichon, Grégory Raux, et al.Human Mutation|May 18, 2006
The cypriot and Iranian National Mutation Frequency DatabasesMarina Kleanthous, Philippos C Patsalis, Anthi Drousiotou, et al.Pageof 583