نتائج البحث - "Julia E. Niskanen"

المساهمون: Department of Medical and Clinical Genetics, Veterinary Biosciences, Departments of Faculty of Veterinary Medicine, University of Helsinki, Hannes Tapani Lohi / Principal Investigator, Medicum, Veterinary Genetics, Helsinki One Health (HOH), Biosciences

المصدر: Human Genetics

مصطلحات موضوعية: Male, Pituitary gland, Heterozygote, RNA Splicing, Dwarfism, 030209 endocrinology & metabolism, Biology, Breeding, Hypopituitarism, 03 medical and health sciences, Exon, 0302 clinical medicine, Dogs, Anterior pituitary, Genetics, medicine, Animals, splice, Dog Diseases, Dwarfism, Pituitary, Gene, Genetics (clinical), 030304 developmental biology, Original Investigation, 0303 health sciences, Whole Genome Sequencing, Homozygote, 1184 Genetics, developmental biology, physiology, Chromosome, High-Throughput Nucleotide Sequencing, Exons, medicine.disease, Introns, Pedigree, medicine.anatomical_structure, Mutation, Female, LHX3, Transcription Factor Pit-1, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5b0f195e7def6707aac2065132ab06b
http://europepmc.org/articles/PMC8519942

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7

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies

المؤلفون: Danika L. Bannasch, Anu K. Lappalainen, Vilma Reunanen, Hannes Lohi, Marjo K. Hytönen, Julia E. Niskanen, Milla Salonen

المساهمون: Hannes Tapani Lohi / Principal Investigator, Department of Medical and Clinical Genetics, Veterinary Biosciences, Equine and Small Animal Medicine, Helsinki One Health (HOH), Departments of Faculty of Veterinary Medicine, Petbone – ortopedia, fysioterapia, kivunlievitys, Biosciences, Veterinary Genetics, Medicum

المصدر: Human genetics, vol 140, iss 11
Human Genetics

مصطلحات موضوعية: Male, Dishevelled Proteins, Dwarfism, 413 Veterinary science, PUGS, DISEASE, 0403 veterinary science, Craniofacial Abnormalities, Congenital, 2.1 Biological and endogenous factors, Dog Diseases, Aetiology, Frameshift Mutation, Tomography, Genetics (clinical), Original Investigation, Pediatric, Genetics & Heredity, 0303 health sciences, NEURAL CREST, 04 agricultural and veterinary sciences, Anatomy, Phenotype, Robinow syndrome, X-Ray Computed, Limb Deformities, FGF4 RETROGENE, Female, Tail, Genotype, 040301 veterinary sciences, Limb Deformities, Congenital, Biology, Frameshift mutation, Paediatrics and Reproductive Medicine, 03 medical and health sciences, Craniosynostoses, Dogs, Complementary and Alternative Medicine, medicine, Genetics, Animals, MALFORMATIONS, Allele, FRENCH BULLDOGS, Gene, Genetic Association Studies, 030304 developmental biology, Skull, Kinked Tail, medicine.disease, Human genetics, Spine, CARDIAC OUTFLOW TRACT, ENDOCARDIAL CUSHION, Urogenital Abnormalities, Congenital Structural Anomalies, Tomography, X-Ray Computed

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f079309383d4b600ecb44d5b855d2d0
https://escholarship.org/uc/item/9vh553gc

8

A novel KRT71 variant in curly-coated dogs

المؤلفون: Julia E. Niskanen, Jonas Donner, Hannes Lohi, Marjo K. Hytönen, Meharji Arumilli, Elina Salmela

المصدر: Animal Genetics. 50:101-104

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab567e3f5ea0ddff3e87b9ea889d9210
https://doi.org/10.1111/age.12746

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9

A novel genomic region on chromosome 11 associated with fearfulness in dogs

المؤلفون: Julia E. Niskanen, Osmo Hakosalo, Hannes Lohi, Marjo K. Hytönen, Riika Sarviaho, Katriina Tiira, Sini Sulkama, Mikko J. Sillanpää

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Veterinary Biosciences, Department of Medical and Clinical Genetics, Medicum, Organismal and Evolutionary Biology Research Programme, Departments of Faculty of Veterinary Medicine, Equine and Small Animal Medicine, Hannes Tapani Lohi / Principal Investigator, Helsinki One Health (HOH), Veterinary Genetics, Biosciences

المصدر: Translational Psychiatry
Translational Psychiatry, Vol 10, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, DISORDERS, MODELS, Locus (genetics), ISOFORMS, Biology, N-TERMINAL KINASES, 413 Veterinary science, Polymorphism, Single Nucleotide, Article, Chromosomes, lcsh:RC321-571, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Dogs, medicine, Genetics, WIDE ASSOCIATION, ANXIETY, Animals, Humans, PHOBIA, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, Exome sequencing, Whole genome sequencing, Genome, Fear, Genomics, Phenotype, Genetic architecture, Breed, 3. Good health, PREVALENCE, Psychiatry and Mental health, 030104 developmental biology, Anxiety, HEALTH, medicine.symptom, 030217 neurology & neurosurgery, Neuroscience, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::830e1688f19dfe6074095212320bdb10
http://europepmc.org/articles/PMC7256038

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10

Ventricular arrhythmia and sudden cardiac death in young Leonbergers

المؤلفون: K. Hagner, Kati Dillard, Hannes Lohi, Marjo K. Hytönen, Julia E. Niskanen, Maria Wiberg, Marjukka Anttila

المساهمون: Equine and Small Animal Medicine, Maria Wiberg / Principal Investigator, University Management, Hannes Tapani Lohi / Principal Investigator, Department of Medical and Clinical Genetics, Veterinary Biosciences, Medicum, Veterinary Genetics, Veterinary Pathology and Parasitology, Helsinki One Health (HOH), Haartman Institute (-2014)

مصطلحات موضوعية: Male, TROPONIN-I, Physiology, M-MODE ECHOCARDIOGRAPHY, Disease, 030204 cardiovascular system & hematology, 413 Veterinary science, AMBULATORY ELECTROCARDIOGRAPHY, RECOMMENDATIONS, Sudden cardiac death, 0403 veterinary science, Electrocardiography, 0302 clinical medicine, ANIMAL-MODEL, Troponin I, Dog Diseases, Family history, High prevalence, Inheritance, medicine.diagnostic_test, DTILAED CARDIOMYOPATHY, 04 agricultural and veterinary sciences, ASSOCIATION, 3. Good health, Pedigree, cardiovascular system, Cardiology, HEART, Clinical evaluation, Arrhythmia, medicine.medical_specialty, 040301 veterinary sciences, DOBERMAN-PINSCHERS, Physical examination, 03 medical and health sciences, Dogs, Internal medicine, medicine, Animals, cardiovascular diseases, Necropsy, arrhytmia, General Veterinary, business.industry, Arrhythmias, Cardiac, medicine.disease, DILATED CARDIOMYOPATHY, PROLONGATION, Death, Sudden, Cardiac, Electrocardiography, Ambulatory, business, Holter monitoring

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5fae14c5ed83b6f4f2a8e4a516eb059
http://hdl.handle.net/10138/322099

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