Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Gayle B. Collin, Jan D. Marshall, Akihiro Ikeda, +9

Nature Genetics

Metabolic SyndromeAlström SyndromeAmyotrophic Lateral SclerosisMendelian DisorderGenetic Disorder +9

New Alström Syndrome Phenotypes Based on the Evaluation of 182 Cases

Jan D. Marshall, Roderick T. Bronson, Gayle B. Collin, +17

Archives of Internal Medicine

Alström Syndrome

Jan D. Marshall, Sebastian Beck, Pietro Maffei, +1

European Journal of Human Genetics

Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis

Anabela S. Ramalho, Sebastian Beck, Michelle E. Meyer, +3

American Journal of Respiratory Cell and Molecular Biology

EngineeringInflammatory Lung DiseaseAdvanced Lung DiseaseLung InflammationGenetics +18

Spectrum of<i>ALMS1</i>variants and evaluation of genotype-phenotype correlations in Alström syndrome

Jan D. Marshall, Elizabeth G. Hinman, Gayle B. Collin, +14

Human Mutation

Cystic Fibrosis F508del Patients Have Apically Localized CFTR in a Reduced Number of Airway Cells

Deborah Penque, Filipa Mendes, Sebastian Beck, +6

Laboratory Investigation

Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder

Ivonne Jarick, A-L Volckmar, Carolin Pütter, +32

Molecular Psychiatry

Genome‐wide association study in German patients with attention deficit/hyperactivity disorder

Anke Hinney, André Scherag, Ivonne Jarick, +32

American Journal of Medical Genetics Part B Neuropsychiatric Genetics

Small GTPase Rac1: Structure, Localization, and Expression of the Human Gene

Paulo Matos, Jennifer Skaug, Bárbara Marques, +6

Biochemical and Biophysical Research Communications

Protein FunctionSignal TransductionMolecular RegulationNatural SciencesGenetics +8

Capacitive near-field communication for ubiquitous interaction and perception

Tobias Große-Puppendahl, Sebastian Herber, Raphael Wimmer, +5

EngineeringAmbient DisplayWearable TechnologyEducationCommunication +16