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Human Mutation|April 14, 2007
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysisUlf-Peter Guenther, Raymonda Varon, Maria Schlicke, et al.
Human Mutation|April 18, 2007
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndromeValeska Frank, Nadina Ortiz Brüchle, Silke Mager, et al.
Human Mutation|April 18, 2007
Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanismsAllan J Richards, Maureen Laidlaw, Sarah P Meredith, et al.
Human Mutation|June 6, 2006
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotypeAaron D Bossler, Jennifer Richards, Cicily George, et al.
Human Mutation|June 6, 2006
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1Allan J Richards, Maureen Laidlaw, Joanne Whittaker, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
Human Mutation|May 10, 2006
TGFBI gene mutations in corneal dystrophiesChitra Kannabiran, Gordon K Klintworth
Human Mutation|May 18, 2006
Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfoldingKatrin Wenzel, Miriam Carl, Andreas Perrot, et al.
Human Mutation|May 18, 2006
Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin geneVéronique Picard, Ulrike Nowak-Göttl, Christine Biron-Andreani, et al.
Human Mutation|May 18, 2006
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGLS Lucchiari, S Pagliarani, S Salani, et al.
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