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Burden of rare variants in synaptic genes in patients with ..:

Amanat, Sana ; Gallego-Martinez, Alvaro ; Sollini, Joseph...
https://www.thelancet.com/journals/ebiom/article/PIIS2352-3964(21)00102-X/fulltext. , 2021

Link: http://hdl.handle.net/10668/4136

RT Journal
T1 <Title>Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftsspa:oai:www.repositoriosalud.es:10668_4136&Exemplar=1&LAN=DE
				
A1 Amanat, Sana
A1 Gallego-Martinez, Alvaro
A1 Sollini, Joseph
A1 Perez-Carpena, Patricia
A1 Espinosa-Sanchez, Juan M
A1 Aran, Ismael
A1 Soto-Varela, Andres
A1 Batuecas-Caletrio, Angel
A1 Canlon, Barbara
A1 May, Patrick
A1 Cederroth, Christopher R
A1 Lopez-Escamez, Jose A
PB Elsevier B.V.
YR 2021
K1 Tinnitus
K1 Extreme phenotype
K1 Axon initial segment
K1 Exome sequencing
K1 Meniere disease
K1 Epilepsy
K1 Genetic studies
K1 Acúfeno
K1 Fenotipo
K1 Segmento inicial del axón
K1 Secuenciación del exoma completo
K1 Enfermedad de Meniere
K1 Epilepsia
K1 Estudios de asociación genética
K1 Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles
K1 Medical Subject Headings::Organisms::Eukaryota::Animals
K1 Medical Subject Headings::Anatomy::Nervous System::Central Nervous System::Brain
K1 Medical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Computational Biology
K1 Medical Subject Headings::Check Tags::Female
K1 Medical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genetic Research::Gene Ontology
K1 Medical Subject Headings::Analytical
K1 Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies
K1 Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
K1 Medical Subject Headings::Check Tags::Male
K1 Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Rodentia::Muridae::Murinae::Mice
K1 Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
K1 Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Health Surveys::Health Status Indicators::Patient Acuity::Severity of Illness Index
K1 Medical Subject Headings::Geographical Locations::Geographic Locations::Europe::Scandinavia::Sweden
K1 Medical Subject Headings::Anatomy::Nervous System::Synapses
K1 Medical Subject Headings::Diseases::Otorhinolaryngologic Diseases::Ear Diseases::Hearing Disorders::Tinnitus
K1 Medical Subject Headings::Diseases::Pathological Conditions
K1 Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease
K1 Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation
K1 Medical Subject Headings::Diseases::Otorhinolaryngologic Diseases::Ear Diseases::Labyrinth Diseases::Endolymphatic Hydrops::Meniere Disease
K1 Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Questionnaires::Self Report
K1 Medical Subject Headings::Diseases::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Epilepsy::Epilepsy
K1 Generalized
K1 Medical Subject Headings::Chemicals and Drugs::Amino Acids
K1 Peptides
K1 and Proteins::Proteins::Cytoskeletal Proteins
K1 Medical Subject Headings::Phenomena and Processes::Biological Phenomena
K1 Medical Subject Headings::Psychiatry and Psychology::Mental Disorders
K1 Medical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genomics
K1 Medical Subject Headings::Anatomy::Nervous System::Neurons
JF https://www.thelancet.com/journals/ebiom/article/PIIS2352-3964(21)00102-X/fulltext
LK http://hdl.handle.net/10668/4136
DO http://hdl.handle.net/10668/4136
SF ELIB - SuUB Bremen

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