المؤلفون: Nina S. McCarthy, Spencer M. Allan, David Chandler, Assen Jablensky, Bharti Morar

المصدر: Genomics Data, Vol 9, Iss C, Pp 18-21 (2016)

مصطلحات موضوعية: Lymphoblastoid cell line, Genotyping, Single nucleotide polymorphism, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213596016300654; https://doaj.org/toc/2213-5960

URL الوصول: https://doaj.org/article/7ef4103bad0246b4b2600d23cc8e42f6

المؤلفون: Mohammed Akli Ayoub, Dora Angelicheva, David Vile, David Chandler, Bharti Morar, Juleen A Cavanaugh, Peter M Visscher, Assen Jablensky, Kevin D G Pfleger, Luba Kalaydjieva

المصدر: PLoS ONE, Vol 7, Iss 3, p e32849 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22448230/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/bcb99bb2a31f46f09b9bce709f1ef34a

المؤلفون: Johanna C. Badcock, Bharti Morar, Osvaldo P. Almeida, Assen Jablensky, Michael Phillips

المصدر: Schizophrenia Research. 193:348-353

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Premature aging, Oncology, medicine.medical_specialty, Genotype, media_common.quotation_subject, Neuropsychological Tests, Loss of heterozygosity, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Cognitive decline, Psychiatry, Klotho Proteins, Klotho, Genetic Association Studies, Biological Psychiatry, Aged, Glucuronidase, media_common, Memory Disorders, Australia, Longevity, Cognition, Middle Aged, medicine.disease, Psychiatry and Mental health, 030104 developmental biology, Schizophrenia, Endophenotype, Mutation, Female, Cognition Disorders, Psychology, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81b824e6294aa89e467be6ab082c249
https://doi.org/10.1016/j.schres.2017.06.054

المؤلفون: Jonathan Golledge, Bharti Morar, Leon Flicker, Assen Jablensky, Osvaldo P. Almeida, Bu B. Yeap, Graeme J. Hankey

المصدر: Maturitas. 101:1-5

مصطلحات موضوعية: Male, Risk, 0301 basic medicine, Gerontology, medicine.medical_specialty, Genotype, Longevity, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Cognition, 0302 clinical medicine, Polymorphism (computer science), Internal medicine, Epidemiology, Humans, Medicine, Dementia, Risk factor, Klotho Proteins, Klotho, Aged, Glucuronidase, Aged, 80 and over, Polymorphism, Genetic, business.industry, Incidence, Incidence (epidemiology), Obstetrics and Gynecology, medicine.disease, 030104 developmental biology, business, 030217 neurology & neurosurgery, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1fa7a46c0c4ce0f967a573c27dd1619
https://doi.org/10.1016/j.maturitas.2017.04.005

المؤلفون: Dimitar N. Azmanov, Ara Kaprelyan, Teodora Chamova, Ivailo Tournev, Stefan J. Siira, Anne-Marie J. Shearwood, Ganqiang Liu, Margarita Grudkova, Zdravko Kamenov, Oliver Rackham, Luba Kalaydjieva, Vassil Svechtarov, Bharti Morar, Aleksandra Filipovska, Velina Guergueltcheva, Michael Bynevelt

المصدر: Human Molecular Genetics. 25:4302-4314

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Transcription, Genetic, RNA Splicing, RNA polymerase II, Gene mutation, RNA polymerase III, Transcriptome, 03 medical and health sciences, RNA, Transfer, Cerebellum, Genetics, Humans, Small nucleolar RNA, Child, Molecular Biology, Gene, Genetics (clinical), biology, RNA Polymerase III, RNA, General Medicine, Middle Aged, Corpus Striatum, Neostriatum, Phenotype, 030104 developmental biology, Mutation, Nerve Degeneration, RNA splicing, biology.protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46b69649e68fd2a3ad514accb0847d20
https://doi.org/10.1093/hmg/ddw263

المؤلفون: Michael T. Ryan, David A. Stroud, Nicole J. Lake, Vamsi K. Mootha, John Christodoulou, David R. Thorburn, Bharti Morar, Peter Procopis, Luke E. Formosa, Alison G. Compton, Sarah E. Calvo

المصدر: Hum Mutat

مصطلحات موضوعية: medicine.medical_specialty, Mitochondrial disease, media_common.quotation_subject, Nonsense, Pyruvate Dehydrogenase Complex, Biology, medicine.disease_cause, Mitochondrial Membrane Transport Proteins, Article, 03 medical and health sciences, Gene Knockout Techniques, Mutant protein, Mitochondrial Precursor Protein Import Complex Proteins, Exome Sequencing, Genetics, medicine, Humans, Leigh disease, Gene, Genetics (clinical), Exome sequencing, 030304 developmental biology, media_common, Sequence Deletion, 0303 health sciences, Mutation, 030305 genetics & heredity, Homozygote, medicine.disease, 3. Good health, Early Diagnosis, HEK293 Cells, Medical genetics, Leigh Disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94eefbeab58d9f77f91c8cc2ef9da6ea
https://pubmed.ncbi.nlm.nih.gov/30981218

المؤلفون: Eloy Rivas, Juan J. Vílchez, Cristina Domínguez, Nigel G. Laing, Valérie Biancalana, Pablo Quiroga, Montse Olivé, Aurelio Hernández-Lain, Fabiola Mavillard, Macarena Cabrera-Serrano, Eduardo Khan, Luba Kalaydjieva, Nuria Muelas, Carmen Paradas, Jocelyn Laporte, Alejandra Carvajal, Jordi Díaz-Manera, Norma B. Romero, Bharti Morar, Mark M. Davis, David Comas, Rainiero Ávila

المساهمون: Instituto de Biomedicina de Sevilla [Sevilla, Spain] (IBIS/HUVR), Universidad de Sevilla-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospital Universitario Virgen del Rocío [Sevilla], The University of Western Australia (UWA), Health Research Institute [Madrid, Espagne], L’Hospitalet de Llobregat [Barcelona, Spain], CIBER de Enfermedades Raras (CIBERER), Hospital General Universitario Santa Lucía (Cartagena), Hospital Universitario Virgen de las Nieves [Granada, Spain] (HUVN), Universitat Autònoma de Barcelona (UAB), PathWest Laboratory Medicine, Royal Perth Hospital, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Immunologie humaine, physiopathologie & immunothérapie (HIPI (UMR_S_976 / U976)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), Universitat Pompeu Fabra [Barcelona] (UPF), Universidad de Sevilla / University of Sevilla-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)

المصدر: Neurology
Neurology, American Academy of Neurology, 2018, 91 (4), pp.339-348. ⟨10.1212/WNL.0000000000005862⟩
Neurology, 2018, 91 (4), pp.339-348. ⟨10.1212/WNL.0000000000005862⟩
NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Roma, Neuromuscular disease, Adolescent, Population, Mallory Bodies, Compound heterozygosity, Article, Muscular Dystrophies, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Prospective Studies, Centronuclear myopathy, Child, education, Prospective cohort study, Adaptor Proteins, Signal Transducing, Retrospective Studies, education.field_of_study, business.industry, Tumor Suppressor Proteins, Haplotype, Nuclear Proteins, Retrospective cohort study, Middle Aged, medicine.disease, Founder Effect, Phenotype, 030104 developmental biology, Scoliosis, Spain, Mutation, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), business, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e213788b7dc0c1c6ee86bdb461641667
https://hal.archives-ouvertes.fr/hal-03671919

المؤلفون: Enrico Bertini, Lorenzo Pinelli, Marjo S. van der Knaap, Claudia M. Persoon, Truus E.M. Abbink, Adeline Vanderver, Barbara Plecko, Julian Curiel, Eline M. Hamilton, Luba Kalaydjieva, Judy S. Liu, Susan Blaser, Nathalie L. van der Meij, Bharti Morar, Nicole I. Wolf, Quinten Waisfisz, Daria Diodato, Dana Dojčaková

المساهمون: Functional Genomics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Human genetics, Pediatric surgery, Amsterdam Reproduction & Development (AR&D)

المصدر: Neurology, 89(17), 1821-1828. American Academy of Neurology
Hamilton, E M C, Bertini, E, Kalaydjieva, L, Morar, B, Dojčáková, D, Liu, J, Vanderver, A, Curiel, J, Persoon, C M, Diodato, D, Pinelli, L, Van Der Meij, N L, Plecko, B, Blaser, S, Wolf, N I, Waisfisz, Q, Abbink, T E M & Van Der Knaap, M S 2017, ' UFM1 founder mutation in the Roma population causes recessive variant of H-ABC ', Neurology, vol. 89, no. 17, pp. 1821-1828 . https://doi.org/10.1212/WNL.0000000000004578
Neurology, 89(17), 1821-1828. Lippincott Williams and Wilkins
Neurology

مصطلحات موضوعية: 0301 basic medicine, Population, Biology, medicine.disease_cause, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, SDG 3 - Good Health and Well-being, medicine, education, Exome sequencing, Chromosome 13, Genetics, Sanger sequencing, Mutation, education.field_of_study, Haplotype, Disease gene identification, 030104 developmental biology, symbols, Neurology (clinical), 030217 neurology & neurosurgery, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d2644e5e74966c1252adbe9bc7ba401
https://research.vu.nl/en/publications/db23120d-576b-44cf-b659-82f0caf10534

المؤلفون: Assen Jablensky, Bharti Morar, Nina S. McCarthy, Phillip E. Melton, Fayeza F. Khan, Eric K. Moses, John Blangero

المصدر: Schizophrenia research. 197

مصطلحات موضوعية: 0301 basic medicine, Proband, Parents, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, DNA Copy Number Variations, Schizoaffective disorder, Biology, Cohort Studies, 03 medical and health sciences, Genetic Heterogeneity, mental disorders, medicine, Humans, Multiplex, Copy-number variation, Gene, Biological Psychiatry, Whole genome sequencing, Genetics, Whole Genome Sequencing, Genetic heterogeneity, Siblings, Exons, Western Australia, medicine.disease, Pedigree, Psychiatry and Mental health, 030104 developmental biology, Psychotic Disorders, Schizophrenia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7038442fe94f035278fcc52df9df6379
https://pubmed.ncbi.nlm.nih.gov/29486958

المؤلفون: Philippe Khau Van Kien, Flora Silbermann, Cécile Jeanpierre, Bharti Morar, Alexandre Benmerah, Camille Humbert, Rémi Salomon, Marie-José Perez, Luba Kalaydjieva, Mohammed Zarhrate, Cécile Masson, Patricia Blanchet, Corinne Antignac, Joelle Roume, Brigitte Leroy, Laurence Heidet, Sophie Saunier, Yuliya Petrov, Frédéric Tores, Olivier Gribouval, Mélanie Parisot

المساهمون: Benmerah, Alexandre, Néphropathies héréditaires et rein en développement (UMR_S 983), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), The University of Western Australia (UWA), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Universitaire Carémeau [Nîmes] (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte [CHU-Necker] (MARHEA)

المصدر: The American Journal of Human Genetics; Vol 94
American Journal of Human Genetics
American Journal of Human Genetics, 2014, 94 (2), pp.288-294. ⟨10.1016/j.ajhg.2013.12.017⟩

مصطلحات موضوعية: Male, Pathology, 030232 urology & nephrology, Kidney development, [SDV.GEN] Life Sciences [q-bio]/Genetics, Kidney, medicine.disease_cause, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, 0302 clinical medicine, Genetics(clinical), [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Genetics, 0303 health sciences, Mutation, Homozygote, Hypoplasia, Pedigree, 3. Good health, Bilateral Renal Agenesis, medicine.anatomical_structure, Female, Kidney Diseases, Erratum, Integrin alpha Chains, medicine.medical_specialty, Genes, Recessive, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Congenital Abnormalities, 03 medical and health sciences, Fetus, Report, [SDV.BDD] Life Sciences [q-bio]/Development Biology, medicine, Humans, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Renal agenesis, Gene, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, medicine.disease, [SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Dysplasia, Urogenital Abnormalities, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c742cbd72d103526d1ff19e23cc0ad86