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Human Mutation|October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiencyJennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.
Human Mutation|October 15, 2013
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseasesKornelia Neveling, Ilse Feenstra, Christian Gilissen, et al.
Human Mutation|October 15, 2013
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Sabrina Brøner, Rugivan Sabaratnam, et al.
Human Mutation|October 15, 2013
Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variantsGorka Ruiz de Garibay, Alberto Acedo, Zaida García-Casado, et al.
Human Mutation|April 2, 2009
Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patientsAna B Pérez Oliva, Lara P Fernéndez, Carlos Detorre, et al.
Human Mutation|April 2, 2010
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an updateAnélia Horvath, Jérôme Bertherat, Lionel Groussin, et al.
Human Mutation|June 18, 2010
Computational analysis of missense mutations causing Snyder-Robinson syndromeZhe Zhang, Shaolei Teng, Liangjiang Wang, et al.
Human Mutation|June 18, 2010
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB typeAna Jorge-Finnigan, Cristina Aguado, Rocio Sánchez-Alcudia, et al.
Human Mutation|May 1, 2009
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation groupAbdullah Mahmood Ali, Michelle Kirby, Michael Jansen, et al.
Human Mutation|May 28, 2010
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Przemyslaw Szafranski, Christian P Schaaf, Richard E Person, et al.
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