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Human Mutation|November 21, 2002
Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neuronsPiret Michelson, Christine Hartwig, Melitta Schachner, et al.
Human Mutation|July 19, 2002
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypesRachel L Robinson, Collin Brooks, Sarah L Brown, et al.
Human Mutation|July 19, 2002
Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndromeKoon-Wing Chan, Tsz-Leung Lee, Brian Hon-Yin Chung, et al.
Human Mutation|July 19, 2002
Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemiaSusanne Heimerl, Thomas Langmann, Christoph Moehle, et al.
Human Mutation|July 12, 2002
BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutations in non-familial casesHulya Yazici, Gordon Glendon, Hilal Yazici, et al.
Human Mutation|July 12, 2002
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 proteinVirginie Wautot, Cécile Vercherat, James Lespinasse, et al.
Human Mutation|July 12, 2002
Large-scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectrometryMonika Werner, Michael Sych, Nicole Herbon, et al.
Human Mutation|July 12, 2002
Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutationsIrene L Andrulis, Hoda Anton-Culver, Jeanne Beck, et al.
Human Mutation|July 12, 2002
Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patientsJean L Johnson, Katharine E Coyne, Robert M Garrett, et al.
Human Mutation|July 12, 2002
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectivelyCarmen Nájera, Magdalena Beneyto, José Blanca, et al.
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