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Human Molecular Genetics|March 18, 2009
Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degenerationPaola Martinelli, Veronica La Mattina, Andrea Bernacchia, et al.Human Mutation|February 5, 2013
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic featuresAda Hamosh, Nara Sobreira, Julie Hoover-Fong, et al.Human Mutation|July 13, 2005
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screeningMaria Fernanda Dantas, Terttu Suormala, Ann Randolph, et al.American Journal of Medical Genetics. Part A|January 19, 2006
A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindredLilei Zhang, Tao Wang, Alan F Wright, et al.JIMD Reports|June 21, 2018
Apparent Acetaminophen Toxicity in a Patient with Transaldolase DeficiencyJasmine Lee-Barber, Taylor E English, Jacquelyn F Britton, et al.Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|January 19, 2011
Effect of genetic background on phenotype variability in transgenic mouse models of amyotrophic lateral sclerosis: a window of opportunity in the search for genetic modifiersTerry D Heiman-Patterson, Roger B Sher, Elizabeth A Blankenhorn, et al.International Journal of Molecular Sciences|March 13, 2024
Use of microRNAs as Diagnostic, Prognostic, and Therapeutic Tools for GlioblastomaDavid Valle-Garcia, Verónica Pérez de la Cruz, Itamar Flores, et al.Genome Research|April 10, 2007
X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardationLilei Zhang, Chunfa Jie, Cassandra Obie, et al.American Journal of Medical Genetics. Part A|October 29, 2014
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasiasNara Sobreira, Peggy Modaff, Gary Steel, et al.American Journal of Medical Genetics. Part A|March 22, 2016
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyAngela Pipitone, Donna B Raval, Jessica Duis, et al.Pageof 15