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Human Mutation|July 22, 2009
Single nucleotide variation detection by ligation of universal probes on a 3D poyacrylamide gel DNA microarrayJing Tang, Yanqiang Li, Zhiqiang Pan, et al.Human Mutation|October 1, 2009
Structural aspects of therapeutic enzymes to treat metabolic disordersTse Siang Kang, Raymond C StevensHuman Mutation|September 25, 2009
A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiencyAnne Parle-McDermott, Faith Pangilinan, Kirsty K O'Brien, et al.Human Mutation|October 8, 2009
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signalingMaria Valencia, Pablo Lapunzina, Derek Lim, et al.Human Mutation|October 6, 2009
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHDChristopher J Ricketts, Julia R Forman, Eleanor Rattenberry, et al.Human Mutation|February 5, 2009
Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulumJulie Deuquet, Laurence Abrami, Analisa Difeo, et al.Human Mutation|February 5, 2009
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsyCarlo Nobile, Roberto Michelucci, Simonetta Andreazza, et al.Human Mutation|February 5, 2009
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and diseaseMarianne Abifadel, Jean-Pierre Rabès, Martine Devillers, et al.Human Mutation|February 5, 2009
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemiaRadek Cmejla, Jana Cmejlova, Helena Handrkova, et al.Human Mutation|February 5, 2009
Increasing the number of diagnostic mutations in malignant hyperthermiaSoledad Levano, Mirko Vukcevic, Martine Singer, et al.Pageof 583