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American Journal of Medical Genetics. Part A|November 6, 2004
Three new families with arterial tortuosity syndromeMarja W Wessels, Coriene E Catsman-Berrevoets, Grazia M S Mancini, et al.American Journal of Medical Genetics. Part A|September 24, 2004
Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factorMohammed A Junaid, Dagmar Kowal, Madhabi Barua, et al.American Journal of Medical Genetics. Part A|September 21, 2004
Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13Ginat Narkis, Daniella Landau, Esther Manor, et al.American Journal of Medical Genetics. Part A|September 21, 2004
Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2Thomas W Prior, Kathryn J Swoboda, H Denman Scott, et al.American Journal of Medical Genetics. Part A|September 24, 2004
Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individualsKari A Casas, Tarja K Mononen, Claudia N Mikail, et al.American Journal of Medical Genetics. Part A|June 24, 2004
Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndromeMarco Henneke, Lars-Erik Wehner, Hans Christian Hennies, et al.American Journal of Medical Genetics. Part A|June 24, 2004
Disomy of distal Xq in males: case report and overviewAntonio Novelli, Laura Bernardini, Damiano Carmelo Salpietro, et al.American Journal of Medical Genetics. Part A|June 24, 2004
A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys)Andreas Busse, María A Sánchez, Victoria Monterroso, et al.American Journal of Medical Genetics. Part A|April 23, 2004
Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish womenKoray Boduroğlu, Yasemin Alanay, Berrin Koldan, et al.American Journal of Medical Genetics. Part A|April 23, 2004
Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndromeHelen Cox, H Bullman, I K TemplePageof 929