نتائج البحث - "situs inversus"

المصدر: Scientific Reports
SCIENTIFIC REPORTS
Scientific Reports, 10, 1, pp. 1-11
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports, 10, 1-11

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Medicine, LEFT-RIGHT ASYMMETRY, PROTEIN, Penetrance, CILIUM, 0302 clinical medicine, Medicine and Health Sciences, TOOL, DNA sequencing, lcsh:Science, Primary ciliary dyskinesia, LATERALITY, Genetics, Multidisciplinary, Cilium, DEFECTS, Middle Aged, Situs Inversus, Female, Neuroinformatics, Adult, animal structures, Adolescent, HANDEDNESS, Genes, Recessive, Biology, Article, 03 medical and health sciences, medicine, otorhinolaryngologic diseases, Humans, Genetic variation, Cilia, Gene, IDENTIFICATION, MUTATIONS, Kartagener Syndrome, lcsh:R, Membrane Proteins, medicine.disease, Pathogenicity, respiratory tract diseases, Situs inversus, 030104 developmental biology, Etiology, lcsh:Q, Carrier Proteins, 030217 neurology & neurosurgery, PATHOGENICITY

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e40759b14a67c0f22ca53676773b8217
http://europepmc.org/articles/PMC7048929

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7

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia : a case report

المؤلفون: Martin Paucar, Anca Dragomir, Tie-Qiang Li, Harriet Nilsson, Elisabet Einarsdottir, Juha Kere, Anna Lindstrand, Tobias Granberg, Hans Matsson, Andrea Bieder, Jesper Eisfeldt, Isabel Tapia-Páez

المساهمون: Biosciences, Päivi Marjaana Saavalainen / Principal Investigator, STEMM - Stem Cells and Metabolism Research Program, Juha Kere / Principal Investigator, Research Programs Unit, HUS Helsinki and Uusimaa Hospital District, University of Helsinki, Biosciences, University of Helsinki, STEMM - Stem Cells and Metabolism Research Program

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, Male, Candidate gene, L-R asymmetry defects, NEUROBIOLOGY, Case Report, Ciliopathies, CANDIDATE GENES, Dyslexia, 0302 clinical medicine, Child, Genetics (clinical), Primary ciliary dyskinesia, Genetics, Cilium, 1184 Genetics, developmental biology, physiology, Brain, DYX1C1, Middle Aged, Situs Inversus, Situs inversus, Female, Medical Genetics, Ciliary Motility Disorders, lcsh:Internal medicine, Heterozygote, lcsh:QH426-470, GENETICS, Developmental dyslexia, Dynein, HANDEDNESS, Brain imaging, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, lcsh:RC31-1245, Medicinsk genetik, DCDC2 MUTATIONS CAUSE, Dyneins, Axonemal Dyneins, medicine.disease, lcsh:Genetics, 030104 developmental biology, Whole genome sequencing, Mutation, SNVs, 3111 Biomedicine, Outer dynein arm, 030217 neurology & neurosurgery

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cb27fa8c2ee5534f56ea5996d8e28c4
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-413235

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Trial to search for mitochondrial DNA mutation associated with cancer detected by massively parallel sequencing

المؤلفون: Fujio Ishizawa, Shigeru Akanuma, Yayoi Iwabuchi, Hisanori Muramatsu, Katsuya Honda, Keishi Umino, Naoto Mochizuki, Yukiko Sugano

المصدر: Forensic Science International: Genetics Supplement Series. 7:698-700

مصطلحات موضوعية: Genetics, Mutation, Mitochondrial DNA, Massive parallel sequencing, Cancer, Biology, medicine.disease, medicine.disease_cause, Genome, Human mitochondrial genetics, Pathology and Forensic Medicine, Situs inversus, medicine.anatomical_structure, medicine, Pancreas

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ce437fbbcb30f8220a2fd6b1711d4e8c
https://doi.org/10.1016/j.fsigss.2019.10.143

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9

Common things are common… or the elephant in the room

المؤلفون: Evangelos Karanasios, Andriana Anagnostopoulou, Nikolaos Andreou

المصدر: Progress in Pediatric Cardiology. 64:101446

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::672b810cd7cdcdfc8cceae8c2ee06753
https://doi.org/10.1016/j.ppedcard.2021.101446

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10

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

المساهمون: Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 103, 995-1008
American Journal of Human Genetics, 103, 6, pp. 995-1008
American Journal of Human Genetics, 103(6), 995-1008. Cell Press
The American Journal of Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Axoneme, Mucociliary clearance, LEFT-RIGHT ASYMMETRY, primary ciliary dyskinesia, Video microscopy, Biology, situs inversus, DNAH11, 03 medical and health sciences, HETEROTAXY, outer dynein arm, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Ciliogenesis, Report, Genetics, medicine, Humans, Cilia, DYSKINESIA, OUTER, Genetics (clinical), Primary ciliary dyskinesia, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], IDENTIFICATION, Kartagener Syndrome, Cilium, Dyneins, RANDOMIZATION, Axonemal Dyneins, medicine.disease, PCD, NEPHRONOPHTHISIS, Cell biology, DNAH9, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Phenotype, 030228 respiratory system, BODY ASYMMETRY, Mutation, Motile cilium, HEART, Outer dynein arm, COMMON-CAUSE, Ciliary Motility Disorders

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f34cd8a81d775214348c48fe9628b91d
http://europepmc.org/articles/PMC6288205

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