المؤلفون: Beecham, AH, Amezcua, L, Chinea, A, Manrique, CP, Rubi, C, Isobe, N, Lund, BT, Santaniello, A, Beecham, GW, Burchard, EG, Comabella, M, Patsopoulos, N, Fitzgerald, K, Calabresi, PA, De Jager, P, Conti, DV, Delgado, SR, Oksenberg, JR, McCauley, JL

المصدر: Multiple sclerosis (Houndmills, Basingstoke, England). 26(11)

مصطلحات موضوعية: Humans, Multiple Sclerosis, Polymorphism, Single Nucleotide, Alleles, United States, Genetic Variation, Hispanic or Latino, Black or African American, Multiple sclerosis, admixture, allelic heterogeneity, genetics, locus heterogeneity, multi-ethnic, pathway analysis, risk score, Genetics, Neurodegenerative, Human Genome, Brain Disorders, Clinical Research, Autoimmune Disease, Genetic Testing, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Clinical Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/495927p3Test

المؤلفون: Basharat, Rabia, de Bruijn, Suzanne E, Zahid, Muhammad, Rodenburg, Kim, Hitti-Malin, Rebekkah J, Rodríguez-Hidalgo, María, Boonen, Erica G M, Jarral, Afeefa, Mahmood, Arif, Corominas, Jordi, Khalil, Sharqa, Zai, Jawaid Ahmed, Ali, Ghazanfar, Ruiz-Ederra, Javier, Gilissen, Christian, Cremers, Frans P M, Ansar, Muhammad, Panneman, Daan M, Roosing, Susanne

المصدر: Exp Eye Res ; ISSN:1096-0007 ; Volume:244

مصطلحات موضوعية: Inherited retinal dystrophies, Intra-familial locus heterogeneity, Phenotype correction, Whole genome sequencing, smMIPs

العلاقة: https://doi.org/10.1016/j.exer.2024.109945Test; https://pubmed.ncbi.nlm.nih.gov/38815792Test

الإتاحة: https://doi.org/10.1016/j.exer.2024.109945Test
https://pubmed.ncbi.nlm.nih.gov/38815792Test

المؤلفون: Jun Wang, Li Zhao, Xia Wang, Yong Chen, Mingchu Xu, Zachry T. Soens, Zhongqi Ge, Peter Ronghan Wang, Fei Wang, Rui Chen

المصدر: Genome Biology, Vol 19, Iss 1, Pp 1-20 (2018)

مصطلحات موضوعية: Mendelian disease, Disease gene prioritization, Cohort analysis, Locus heterogeneity, Next-generation sequencing, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13059-018-1579-xTest; https://doaj.org/toc/1474-760XTest

الوصول الحر: https://doaj.org/article/a797d176757f496fa11a63f4d1f4156eTest

المؤلفون: John B. Kwok, Clement T. Loy, Carol Dobson-Stone, Glenda M. Halliday

المصدر: Neurobiology of Disease, Vol 145, Iss , Pp 105082- (2020)

مصطلحات موضوعية: Alzheimer's disease, Frontotemporal lobar degeneration, Lewy body diseases, Prion diseases, Gene locus heterogeneity, Allelic heterogeneity, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996120303570Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/11491c70bdf2446ea0ead6b42af55778Test

المؤلفون: Alma Kuechler, Wolfram Klein, Ruth Falb, Tilman Heinrich, Susanne Haen, Amelie J. Müller, Natalia Prodan, Eva M. C. Schwaibold, Andreas Dufke, Marc Sturm, Nina Hirt, Mona Grimmel, Markus Hoopmann, Ulrich Gembruch, Petra Stöbe, Dirk Emmerich, Silke Hartmann, Stephan Waldmüller, Ute Grasshoff, Glen Kristiansen, Olga Kelemen, Armin Neumann, Darja Gauck, Dieter Gläser, Karl Oliver Kagan, Tobias B. Haack, Rebecca Buchert, Stefanie Beck-Wödl, Nicola Dikow, Christoph Schmidt, Ismail Tekesin, Sabine Hentze, Denise Horn, Olaf Riess, Martin Kehrer, Joohyun Park, Stephan Ossowski, Felix Distelmaier, Stephanie Spranger, Reiner Siebert, Luisa Averdunk

المصدر: Journal of Medical Genetics. 60:48-56

مصطلحات موضوعية: Genetics, Arthrogryposis, Medizin, Neuropathologie, Disease, Biology, Neuromuscular diseases, medicine.disease, Phenotype, Pathogenesis, Neuromuskuläre Krankheit, Pulmonary hypoplasia, DDC 570 / Life sciences, Locus heterogeneity, ddc:570, Nervous system diseases, medicine, ddc:610, Genetik, medicine.symptom, DDC 610 / Medicine & health, Gene, Genetics (clinical), Exome sequencing

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fc67063fced297732b175a2a131ead1Test
https://doi.org/10.1136/jmedgenet-2021-108064Test

المؤلفون: Ulrich Müller

المصدر: Neurogenetics

مصطلحات موضوعية: Genotype, Ca2+ homeostasis, Review Article, Biology, Common mutations, Cellular and Molecular Neuroscience, Locus heterogeneity, Genetics, medicine, Humans, Genetics (clinical), Arthrogryposis, Genetic heterogeneity, Point mutation, medicine.disease, Phenotype, Human genetics, Spinocerebellar ataxias, Disease mechanisms, Genes, Mitochondrial, Mutation, Spinocerebellar ataxia, Gait Ataxia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8b413f548ff42428ddfed9b4c80bc10Test
https://doi.org/10.1007/s10048-021-00662-5Test

المؤلفون: Neda Golchin, Yeganeh Eshaghkhani, Arezou Karamzade, Mohammad Keramatipour, Aysun Khalil Nejad Sani Banaei, Mohammad Reza Saberi, Zahra Golchehre, Meisam Babaei

المصدر: Molecular Biology Reports. 48:5339-5345

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Genotype, Genomics, Iran, Biology, medicine.disease_cause, Retina, Joubert syndrome, 03 medical and health sciences, 0302 clinical medicine, Locus heterogeneity, Cerebellum, Exome Sequencing, Genetics, medicine, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Molecular Biology, Gene, Exome sequencing, Adaptor Proteins, Signal Transducing, Mutation, Genetic heterogeneity, Homozygote, Infant, General Medicine, Kidney Diseases, Cystic, Middle Aged, medicine.disease, Pedigree, Adaptor Proteins, Vesicular Transport, Phenotype, 030104 developmental biology, 030220 oncology & carcinogenesis, Medical genetics, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d13b75627e23d9392d54e001394fdd26Test
https://doi.org/10.1007/s11033-021-06508-5Test

المؤلفون: Subbulakshmi Chidambaram, Jayamuruga Pandian Arunachalam, Dhandayuthapani Sudha, Umashankar Vetrivel, Hemavathy Nagarajan, Rahini Rajendran

المصدر: BMC Research Notes, Vol 14, Iss 1, Pp 1-7 (2021)
BMC Research Notes

مصطلحات موضوعية: 0301 basic medicine, Retinal Disorder, Science (General), FZD4, RS1, Retinoschisis, QH301-705.5, In silico, Biology, Blindness, Interactome, Retina, General Biochemistry, Genetics and Molecular Biology, Mice, 03 medical and health sciences, Q1-390, 0302 clinical medicine, Locus heterogeneity, NDP, Functional association, medicine, Animals, Humans, Biology (General), Eye Proteins, Genetics, Retinal Degeneration, MALDI-TOF mass spectrometry, Genetic Diseases, X-Linked, General Medicine, medicine.disease, Protein–protein interaction, Research Note, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, Medicine, Norrie disease, Nervous System Diseases, RETINOSCHISIN, Spasms, Infantile

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::365e1e4c99cf5755fa6f414d14075203Test
https://doaj.org/article/3aa8cae132ad4238822d3b956746910bTest

المؤلفون: Wade, Emma M., Jenkins, Zandra A., Daniel, Philip B., Morgan, Tim, Addor, Marie C., Ades, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, de Geus, Christa M., Duba, Hans-Christoph, Fletcher, Elaine, Hadzsiev, Kinga, Hennekam, Raoul C. M., Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Sillence, David, Superti-Furga, Andrea, Veenstra-Knol, Hermine E., Wieczorek, Dagmar, Wilson, Louise C., Markie, David M., Robertson, Stephen P.

المصدر: Wade , E M , Jenkins , Z A , Daniel , P B , Morgan , T , Addor , M C , Ades , L C , Bertola , D , Bohring , A , Carter , E , Cho , T-J , de Geus , C M , Duba , H-C , Fletcher , E , Hadzsiev , K , Hennekam , R C M , Kim , C A , Krakow , D , Morava , E , Neuhann , T , Sillence , D , Superti-Furga , A , Veenstra-Knol , H E , ....

مصطلحات موضوعية: Frontometaphyseal dysplasia, keloid, locus heterogeneity, scoliosis, TAB2, TAK1, MUTATIONS, DEFECTS, HUMANS, MAP3K7, FLNA

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/0b321545-2b61-40b5-91cd-aee2ef46df8bTest

الإتاحة: https://doi.org/10.1002/ajmg.a.38267Test
https://hdl.handle.net/11370/0b321545-2b61-40b5-91cd-aee2ef46df8bTest
https://research.rug.nl/en/publications/0b321545-2b61-40b5-91cd-aee2ef46df8bTest
https://pure.rug.nl/ws/files/48406507/Wade_et_al_2017_American_Journal_of_Medical_Genetics_Part_A.pdfTest

المؤلفون: Christopher M. Grochowski, Richard A. Gibbs, Jesper Eisfeldt, Anna Lindstrand, Juliana F. Mazzeu, James R. Lupski, Donna M. Muzny, Chaofan Zhang, Claudia M.B. Carvalho, V. Reid Sutton, Shalini N. Jhangiani, Janson White, Zeynep Coban Akdemir

المصدر: Am J Med Genet A

مصطلحات موضوعية: Male, Dishevelled Proteins, Limb Deformities, Congenital, Dwarfism, Genes, Recessive, Locus (genetics), Biology, Receptor Tyrosine Kinase-like Orphan Receptors, Article, Craniofacial Abnormalities, Genetic Heterogeneity, symbols.namesake, Locus heterogeneity, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Wnt Signaling Pathway, Genetics (clinical), Exome sequencing, Genes, Dominant, Sanger sequencing, Comparative Genomic Hybridization, Whole Genome Sequencing, Genetic heterogeneity, Wnt signaling pathway, ROR2, medicine.disease, Robinow syndrome, Urogenital Abnormalities, Genomic Structural Variation, symbols, Female, Oxidoreductases, Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd658249eddde139dbc36927c81af436Test
https://doi.org/10.1002/ajmg.a.61908Test