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Documents Diagnosis of severe scrub typhus infection by next-generation sequencing:a case report

Diagnosis of severe scrub typhus infection by next-generation sequencing:a case reportCASE REPORT Open Access Diagnosis of severe scrub typhus infection by next-generation

Documents Diagnosis of severe scrub typhus infection by next-generation sequencing:a case report

Diagnosis of severe scrub typhus infection by next-generation sequencing:a case reportCASE REPORT Open Access Diagnosis of severe scrub typhus infection by next-generation

Documents Aarskog-Scott syndrome: phenotypic and genetic heterogeneity

Aarskog-Scott syndrome: phenotypic and genetic heterogeneity M. Reza Jabalameli1, Ignacio Briceno2, Julio Martinez2, Ignacio Briceno3, Reuben J. Pengelly1, Sarah Ennis1,

Documents CHARCOT MARIE TOOTH DISEASE AND RELATED DISORDERS – AN EVOLVING LANDSCAPE

EVOLVING LANDSCAPE Matilde Laurá1, Menelaos Pipis1, Alexander M Rossor1, Mary M Reilly1 1MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology,

Documents Genetics in dystonia

Genetics in dystoniaContents lists available at SciVerse ScienceDirect Parkinsonism and Related Disorders journal homepage: www.elsevier .com/locate/parkreldis Institute

Documents Towards Stratified Medicine in Plasma Cell Myeloma

Towards Stratified Medicine in Plasma Cell MyelomaTowards Stratified Medicine in Plasma Cell Myeloma Philip Egan, Stephen Drain, Caroline Conway, Anthony J. Bjourson and

Documents Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism

Hovnik et al.: Genetic Variability in Slovenian Cohort of Patients ... DOI: 10.17344/acsi.2021.6690 Scientific paper Genetic Variability in Slovenian Cohort of Patients with

Documents Panel Sequencing Identified a Novel Splice Site Mutation in Hermansky-Pudlak Syndrome Type 1...

Panel Sequencing Identified a Novel Splice Site Mutation in Hermansky-Pudlak Syndrome Type 1 PatientsArch Clin Med Case Rep 2020; 4 (6): 1172-1181 DOI: 10.26502/acmcr.96550313

Documents The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next...

The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a reviewREVIEW Open Access The role of gene

Documents Clinically Relevant Biomarker Discovery in High-Risk Recurrent Neuroblastoma

Clinically Relevant Biomarker Discovery in High-Risk Recurrent Neuroblastomafurther permission provided the original work is attributed as specified on the SAGE and Open