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Human Mutation|April 29, 1998
Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from NewfoundlandS E Olufemi, J S Green, P Manickam, et al.
Human Mutation|April 29, 1998
Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effectJ J Shieh, C Y Lin
Human Mutation|April 29, 1998
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutationsP Di Natale, N Balzano, S Esposito, et al.
Human Mutation|April 29, 1998
A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndromeT Dörk, F Schnieders, S Jakubiczka, et al.
Human Mutation|April 29, 1998
A Dde I RFLP in exon 21 of human EL1 gene, encoding protein 4.1, detectable by SSCPP Maillet, N Dalla Venezia, M Bozon, et al.
Human Mutation|April 1, 1998
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotypeN Yamada, S Fukuda, S Tomatsu, et al.
Human Mutation|August 6, 2016
Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation SocietyWilliam S Oetting, Anthony J Brookes, Christophe Béroud, et al.
Human Mutation|August 6, 2016
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic ParaplegiaGaurav V Harlalka, Meriel E McEntagart, Neerja Gupta, et al.
Human Mutation|July 15, 2015
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner SyndromeDavor Lessel, Fuki M Hisama, Katalin Szakszon, et al.
Human Mutation|July 18, 2015
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu typeJulie Jurgens, Nara Sobreira, Peggy Modaff, et al.
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