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Human Mutation|January 29, 2003
Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexesPaul Emmerson, Julie Maynard, Siân Jones, et al.
Human Mutation|January 29, 2003
Rapid detection of exon 1 NRAS gene mutations using universal heteroduplex generator technologyCarolina Belli, Carlos De Brasi, Irene Larripa
Human Mutation|January 29, 2003
Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) studyArleen D Auerbach, Jason Greenbaum, Kanan Pujara, et al.
Human Mutation|January 29, 2003
Mutations in the CACNA1F and NYX genes in British CSNBX familiesIlaria Zito, Louise E Allen, Reshma J Patel, et al.
Human Mutation|January 29, 2003
Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patientsJ Boudeau, A Kieloch, D R Alessi, et al.
Human Mutation|February 13, 2004
Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic diseaseEric Schulze-Bahr, Lars Eckardt, Günter Breithardt, et al.
Human Mutation|February 13, 2004
Identification of variants in NFKBIA and association analysis with hepatocellular carcinoma risk among chronic HBV patientsLyoung Hyo Kim, Hyoung Doo Shin, Byung Lae Park, et al.
Human Mutation|February 13, 2004
A novel PTPN11 mutation in LEOPARD syndromeE Conti, T Dottorini, A Sarkozy, et al.
Human Mutation|September 5, 2003
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric diseaseKim Cryns, Theru A Sivakumaran, Jody M W Van den Ouweland, et al.
Human Mutation|September 5, 2003
Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the youngVilma Mantovani, Silvana Salardi, Vincenzo Cerreta, et al.
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