المؤلفون: Danielle L Blackwell, Sherri D Fraser, Oana Caluseriu, Claudia Vivori, Amanda V Tyndall, Ryan E Lamont, Jillian S Parboosingh, A Micheil Innes, François P Bernier, Sarah J Childs

المصدر: G3: Genes, Genomes, Genetics, Vol 12, Iss 5 (2022)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2160-1836

URL الوصول: https://doaj.org/article/366d8921841d47e799ad4eed47dc49fa

المؤلفون: Walaa Almutawa, Christopher Smith, Rasha Sabouny, Ryan B. Smit, Tian Zhao, Rachel Wong, Laurie Lee-Glover, Justine Desrochers-Goyette, Hema Saranya Ilamathi, Oksana Suchowersky, Marc Germain, Paul E. Mains, Jillian S. Parboosingh, Gerald Pfeffer, A. Micheil Innes, Timothy E. Shutt

المصدر: EBioMedicine, Vol 45, Iss , Pp 379-392 (2019)

مصطلحات موضوعية: Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396419303998; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/1419440341e14615abfb0148b8088d98

المؤلفون: Janet R. Zhou, Ross Ridsdale, Lauren MacNeil, Margaret Lilley, Stephanie Hoang, Susan Christian, Pamela Blumenschein, Vanessa Wolan, Aisha Bruce, Gurpreet Singh, Nicola Wright, Jillian S. Parboosingh, Ryan E. Lamont, Iveta Sosova

المصدر: International Journal of Neonatal Screening; Volume 7; Issue 4; Pages: 78

مصطلحات موضوعية: sickle cell disease, sickle cell trait, newborn screening

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns7040078

الاتاحة: https://doi.org/10.3390/ijns7040078

المؤلفون: Amanda V. Tyndall, R. Stewart Longman, Tolulope T. Sajobi, Jillian S. Parboosingh, Lauren L. Drogos, Margie H. Davenport, Gail A. Eskes, David B. Hogan, Michael D. Hill, Marc J. Poulin

المصدر: Frontiers in Integrative Neuroscience, Vol 14 (2020)

مصطلحات موضوعية: subjective memory complaints, cognitive aging, genetic risk, cerebrovascular circulation, objective cognitive function, exercise, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnint.2020.571683/full; https://doaj.org/toc/1662-5145

URL الوصول: https://doaj.org/article/0b2b7eca42f44d7a955af79e3b6662f4

المؤلفون: Michelle M. Axford, Ron Agatep, Marcos Clavier, Stacey Hume, Elizabeth Spriggs, Andrea K Vaags, George S. Charames, Harriet Feilotter, Nicholas A. Watkins, Amanda C. Smith, Tracy Tucker, Matthew S. Lebo, Vanessa Di Gioacchino, Jordan Lerner-Ellis, Ian Bosdet, Mohammad R. Akbari, William D. Foulkes, Chloe Mighton, Sean S. Young, Lorena Lazo de la Vega, Talia Silver, Ryan E. Lamont, Laura Semenuk, Robert Tomaszewski, Christian R. Marshall, Nancy Hamel, Justin Mayers, Henry K. Wong, Jillian S. Parboosingh, Marsha Speevak, Aly Karsan, George Chong, Sherryl Taylor

المصدر: J Med Genet

مصطلحات موضوعية: Canada, Concordance, Article, 03 medical and health sciences, Likely benign, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Clinical care, Uncertain significance, Genetics (clinical), Likely pathogenic, 030304 developmental biology, Genetic testing, 0303 health sciences, medicine.diagnostic_test, Information Dissemination, business.industry, 030305 genetics & heredity, Genetic Variation, Human genetics, Data sharing, Laboratories, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e79c0e1de128d207d5bd72db07f48359
https://doi.org/10.1136/jmedgenet-2021-107738

المؤلفون: Verena Klämbt, Youying Mao, Vimla Aggarwal, Arang Kim, Friedhelm Hildebrandt, Mohamad A. Mikati, Vandana Shashi, Anne H. O’Donnell-Luria, Vaidehi Jobanputra, Jeremiah Martino, Vivette D. D'Agati, Minxian Wang, Marcus R. Benz, Shoji Yano, Janine Altmüller, Ali G. Gharavi, Florian Buerger, Enrico Fiaccadori, Richard P. Lifton, Bodo B. Beck, Amy Kolb, Mordi Muorah, David Goldstein, Nina Mann, Martin R. Pollak, Dina Ahram, Heidi Cope, Gian Marco Ghiggeri, Jillian S. Parboosingh, Asmaa S. AbuMaziad, Kamal Khan, Ana C. Onuchic-Whitford, Louise Bier, Emma Pierce-Hoffman, Jonathan E. Zuckerman, Shrikant Mane, Moin A. Saleem, Amar J. Majmundar, Heidi L. Rehm, Ora Yadin, Erin L. Heinzen, Gina Y. Jin, Christelle Moufawad El Achkar, Konstantin Deutsch, Julia Hoefele, Ania Koziell, Gianluca Caridi, Talha Gunduz, Agnieszka Bierzynska, Korbinian M. Riedhammer, Monica Bodria, Ronen Schneider, Julian A. Martinez-Agosto, Thomas M. Kitzler, Shirlee Shril, Ulrike John-Kroegel, Howard Trachtman, Adele Mitrotti, Eleanor G. Seaby, Amanda V. Tyndall, Isabella Pisani, Patricia L. Weng, Tze Y Lim, A. Micheil Innes, John Musgrove, Simone Sanna-Cherchi, Erica E. Davis

المصدر: Am J Hum Genet

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, medicine.medical_specialty, Nephrotic Syndrome, Developmental Disabilities, 030232 urology & nephrology, Neurogenetics, Nerve Tissue Proteins, Biology, Kidney, Cell Line, Mice, 03 medical and health sciences, Exon, 0302 clinical medicine, Focal segmental glomerulosclerosis, Report, Exome Sequencing, Genetics, medicine, Animals, Humans, Child, Exome, Genetics (clinical), Exome sequencing, Epilepsy, Glomerulosclerosis, Focal Segmental, Podocytes, medicine.disease, 3. Good health, Phenotype, 030104 developmental biology, Codon, Nonsense, Child, Preschool, Mutation, Medical genetics, Female, Intranuclear Space, Carrier Proteins, Nephrotic syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7969111fa124c459f42b18f37374a18
https://doi.org/10.1016/j.ajhg.2021.01.008

المؤلفون: Mary Ann Thomas, Pamela Veale, Jillian S. Parboosingh, Lauren A. Borch

المصدر: Genetics in Medicine. 22:1036-1039

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Fragile x, medicine.diagnostic_test, business.industry, 030105 genetics & heredity, medicine.disease, Fragile X syndrome, 03 medical and health sciences, 030104 developmental biology, Autism spectrum disorder, Chart review, Intellectual disability, medicine, Global developmental delay, Family history, business, Genetics (clinical), Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::885b2c8ccdd6d25f97309045a2e8312a
https://doi.org/10.1038/s41436-020-0773-x

المؤلفون: Jillian S. Parboosingh, Vanessa Wolan, Stephanie Hoang, Gurpreet Singh, Iveta Sosova, Aisha Bruce, Ross Ridsdale, Margaret Lilley, Susan Christian, Nicola A.M. Wright, Janet R. Zhou, Pamela Blumenschein, Lauren Macneil, Ryan E. Lamont

المصدر: International Journal of Neonatal Screening
International Journal of Neonatal Screening; Volume 7; Issue 4; Pages: 78
International Journal of Neonatal Screening, Vol 7, Iss 78, p 78 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Blood transfusion, Thalassemia, medicine.medical_treatment, Disease, RJ1-570, sickle cell disease, sickle cell trait, newborn screening, Article, Immunology and Microbiology (miscellaneous), hemic and lymphatic diseases, medicine, Newborn screening, Sickle cell trait, business.industry, Incidence (epidemiology), Obstetrics and Gynecology, medicine.disease, Sickle cell anemia, Red blood cell, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38b888176388c1e8c0157dc81716bc7b
https://pubmed.ncbi.nlm.nih.gov/34842602

المؤلفون: Elizabeth McCready, Jillian S. Parboosingh, Marsha Speevak, Ron Agatep, Stacey Hume, Tracy Stockley, Sherryl Taylor, Tanya N. Nelson, Dimitri J. Stavropoulos, Harriet Feilotter

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Canada, medicine.medical_specialty, Genetics, Medical, Guidelines as Topic, DNA sequencing, diagnostics tests, 03 medical and health sciences, 0302 clinical medicine, Laboratory service, Genetics, Clinical genetic, medicine, Humans, Medical physics, guidelines, Genetic Testing, Diagnostics, Genetics (clinical), Massive parallel sequencing, business.industry, Genetic variants, High-Throughput Nucleotide Sequencing, Genomics, Guideline, Clinical Laboratory Services, Clinical Practice, 030104 developmental biology, 030220 oncology & carcinogenesis, molecular genetics, Medical genetics, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::820ad7d410afd16c605080d211454a64
https://doi.org/10.1136/jmedgenet-2019-106152

المؤلفون: Gerald Pfeffer, Tian Zhao, Walaa Almutawa, Marc Germain, Rachel Wong, Rasha Sabouny, Ryan B Smit, Justine Desrochers-Goyette, Hema Saranya Ilamathi, Oksana Suchowersky, Laurie Lee-Glover, Timothy E. Shutt, Jillian S. Parboosingh, A. Micheil Innes, Paul E Mains, Christopher Smith

المصدر: EBioMedicine

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Research paper, Peripheral neuropathy, Mitochondrion, Biology, Gene mutation, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Myosin, medicine, Non-muscle myosin, Caenorhabditis elegans, Loss function, Mutation, Mitochondrial fission, mtDNA, General Medicine, medicine.disease, Cell biology, Mitochondria, 030104 developmental biology, 030220 oncology & carcinogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a59fc4b298a1ce1a9de8fc8890dc509
http://europepmc.org/articles/PMC6642256

المؤلفون: Marc J. Poulin, Veronica Guadagni, Jillian S. Parboosingh, Amanda V. Tyndall, Magdy Younes, Hannah Byles, David B. Hogan, Patrick J. Hanly, Richard Stewart Longman

المصدر: Journal of Sleep Research. 30

مصطلحات موضوعية: Male, medicine.medical_specialty, Polysomnography, Cognitive Neuroscience, Sleep spindle, Non-rapid eye movement sleep, Executive Function, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, Physical medicine and rehabilitation, medicine, Humans, Cognitive decline, medicine.diagnostic_test, business.industry, Montreal Cognitive Assessment, Electroencephalography, Cognition, General Medicine, Mental Status and Dementia Tests, Healthy Volunteers, Cross-Sectional Studies, 030228 respiratory system, Apnea–hypopnea index, Female, Sedentary Behavior, business, Body mass index, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5119bd1454633b3aba0cb13b82444c0b
https://doi.org/10.1111/jsr.13037

المؤلفون: Jill K. Raneri, Veronica Guadagni, Cameron M. Clark, Jillian S. Parboosingh, Amanda V. Tyndall, Patrick J. Hanly, David B. Hogan, Marc J. Poulin

المصدر: Journal of Alzheimer's Disease Reports. 2:229-238

مصطلحات موضوعية: 0301 basic medicine, Apolipoprotein E, medicine.medical_specialty, medicine.diagnostic_test, business.industry, General Neuroscience, Polysomnography, medicine.disease, Sleep in non-human animals, 3. Good health, Pittsburgh Sleep Quality Index, 03 medical and health sciences, Psychiatry and Mental health, Clinical Psychology, 030104 developmental biology, 0302 clinical medicine, Internal medicine, medicine, Dementia, Aerobic exercise, Sleep onset latency, Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::564c21939efb18e5ddc82279180b6c17
https://doi.org/10.3233/adr-180079

المؤلفون: Caitlin Goedhart, A. Micheil Innes, Alison Eaton, Oana Caluseriu, Jillian S. Parboosingh, Ryan E. Lamont, Kym M. Boycott, Francois P. Bernier

المصدر: American Journal of Medical Genetics Part A. 176:2487-2493

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Ataxia, Hearing loss, Hearing Loss, Sensorineural, Mitochondrial disease, 030105 genetics & heredity, 03 medical and health sciences, Exome Sequencing, otorhinolaryngologic diseases, Genetics, medicine, Humans, RNA, Messenger, Cognitive decline, Genetics (clinical), Exome sequencing, Dystonia, business.industry, Siblings, Middle Aged, medicine.disease, Pedigree, Natural history, Exoribonucleases, Female, Sensorineural hearing loss, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d52a998e34bd5b6c40fb909a7c69a4c
https://doi.org/10.1002/ajmg.a.40516

المؤلفون: Antonie D. Kline, Carolina I. Galarreta, Usha Kini, Jeroen Breckpot, Jillian S. Parboosingh, P.Y. Billie Au, Klaas J. Wierenga, Dorothy K. Grange, Elizabeth A. Fanning, Gail E. Graham, Caitlin Goedhart, Marilyn C. Jones, Marcia Ferguson, A. Micheil Innes, Helen Stewart, Koenraad Devriendt

المصدر: European Journal of Human Genetics. 26:1272-1281

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Heart malformation, Mutation, Missense, Article, Craniosynostosis, Heterogeneous-Nuclear Ribonucleoprotein K, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Ptosis, Loss of Function Mutation, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Child, Genetics (clinical), business.industry, Infant, Syndrome, medicine.disease, Phenotype, Dermatology, 030104 developmental biology, AU-KLINE SYNDROME, medicine.symptom, business, Kabuki syndrome, Gene Deletion, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4d3050c328973487c595313ab0feba9
https://doi.org/10.1038/s41431-018-0187-2

المؤلفون: Jillian S. Parboosingh, Kym M. Boycott, M. Kerr, Jessica L. Zambonin, Elka Miller, Yanwei Xi, Sunita Venkateswaran, Taila Hartley, Ryan E. Lamont, David A. Dyment

المصدر: neurogenetics. 19:61-65

مصطلحات موضوعية: 0301 basic medicine, Adolescent, Nonsense mutation, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, Epilepsy, 0302 clinical medicine, Neurodevelopmental disorder, Cortex (anatomy), Genetics, medicine, Polymicrogyria, Humans, Genetics (clinical), Pachygyria, Brain, High-Throughput Nucleotide Sequencing, medicine.disease, Phenotype, Human genetics, 030104 developmental biology, medicine.anatomical_structure, Codon, Nonsense, Female, Laminin, Neuroscience, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::409e345018de5097e6cbe649d923c134
https://doi.org/10.1007/s10048-017-0534-4

المؤلفون: Siegfried Hekimi, Aneal Khan, Christopher Smith, Micheil Innes, Ying Wang, Jillian S. Parboosingh

المصدر: Journal of Cellular and Molecular Medicine

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Ubiquinone, Hearing loss, DNA Mutational Analysis, COQ7, Biology, medicine.disease_cause, DNA, Mitochondrial, Cell Line, Mixed Function Oxygenases, Mitochondrial Proteins, Consanguinity, 03 medical and health sciences, 0302 clinical medicine, Cytochrome P-450 Enzyme System, Polymorphism (computer science), mitochondrial dysfunction, Hydroxybenzoates, medicine, Animals, Humans, Child, Hearing Loss, Gene, primary ubiquinone deficiency, Mice, Knockout, Mutation, Base Sequence, Spastic Paraplegia, Hereditary, 2,4‐dihydroxybenzoic acid, Membrane Proteins, Original Articles, Cell Biology, Fibroblasts, Molecular biology, 3. Good health, 030104 developmental biology, Coenzyme Q – cytochrome c reductase, Molecular Medicine, Female, Original Article, Heterologous expression, coenzyme Q, medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5b8485a6b60eff6353ae3ac01de5c5e
https://doi.org/10.1111/jcmm.13154

المؤلفون: Raehee Park, Ryan E. Lamont, Christopher Smith, Alexander P.A. Stegmann, Seonhee Kim, Jillian S. Parboosingh, Kirsty McWalter, Seo-Hee Cho, Grace E. VanNoy, Francois P. Bernier, Paul J. Benke, Jane Juusola, Casie A. Genetti, Jiahai Shi, Patricia Ellen Grant, Noelle A. Sterling, A. Micheil Innes, Pankaj B. Agrawal, David A. Koolen, David J. Harris, Anna R. Duncan

المساهمون: MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output

المصدر: Human Molecular Genetics, 29(20), 3388-3401. Oxford University Press
Human Molecular Genetics, 29, 3388-3401
Human Molecular Genetics, 29, 20, pp. 3388-3401
Hum Mol Genet

مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Cerebellum, Developmental Disabilities, Mice, 0302 clinical medicine, Global developmental delay, Child, MUTATION, Genetics (clinical), Mice, Knockout, education.field_of_study, C57BL/6N MICE, Neurogenesis, General Medicine, Cell biology, medicine.anatomical_structure, Female, General Article, Neural development, Adult, Adolescent, Population, Biology, Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, CRB1, Genetics, medicine, Animals, Humans, education, Molecular Biology, PROTEIN PALS1, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], COMPLEX, Membrane Proteins, medicine.disease, GENE, Mice, Inbred C57BL, 030104 developmental biology, PROGENITOR CELLS, CRUMBS, Neuron, Nervous System Diseases, Apical complex, Nucleoside-Phosphate Kinase, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a77154656af408e82db9316bbafcc63a
https://doi.org/10.1093/hmg/ddaa224

المؤلفون: A. Micheil Innes, Yoko Ito, Alison Eaton, Jillian S. Parboosingh, Kristin D. Kernohan, Ryan E. Lamont, Taila Hartley, Nick Barrowman, Kym M. Boycott

المصدر: Clinical geneticsREFERENCES. 97(6)

مصطلحات موضوعية: 0301 basic medicine, Male, Canada, Consanguinity, 030105 genetics & heredity, Biology, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Humans, Exome, Genetic Testing, Genetics (clinical), Exome sequencing, Genetic testing, medicine.diagnostic_test, Family structure, Significant difference, Homozygote, Genetic Diseases, Inborn, Pedigree, 030104 developmental biology, Genetics, Population, Mutation, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4049a98f8fce5bf44fecebf42b2eca0
https://pubmed.ncbi.nlm.nih.gov/32162313

المؤلفون: Tian Zhao, Caitlin Goedhart, Jillian S. Parboosingh, Jean E. Vance, Timothy E. Shutt, David S. Sinasac, Ryan E. Lamont, Adam J Cornish, A. Micheil Innes, Pingdewinde N. Sam, Steven M. Claypool, Rasha Sabouny, Susanne Lingrell, Francois P. Bernier

المصدر: Life Science Alliance

مصطلحات موضوعية: Health, Toxicology and Mutagenesis, Mitochondrial disease, Plant Science, Biology, Compound heterozygosity, Biochemistry, Genetics and Molecular Biology (miscellaneous), 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Lysosome, medicine, Inner mitochondrial membrane, Research Articles, 030304 developmental biology, Phosphatidylethanolamine, 0303 health sciences, Ecology, Phosphatidylserine, Transfection, medicine.disease, Cell biology, medicine.anatomical_structure, chemistry, sense organs, 030217 neurology & neurosurgery, Phosphatidylserine decarboxylase, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b1d342a9f16fc3f311f436a1ce6a477
http://europepmc.org/articles/PMC6412922

المؤلفون: Amanda V. Tyndall, R. Stewart Longman, Tolulope T. Sajobi, Jillian S. Parboosingh, Lauren L. Drogos, Margie H. Davenport, Gail A. Eskes, David B. Hogan, Michael D. Hill, Marc J. Poulin

مصطلحات موضوعية: Neuroscience, Central Nervous System, Animal Physiology - Biophysics, Animal Neurobiology, subjective memory complaints, cognitive aging, genetic risk, cerebrovascular circulation, objective cognitive function, exercise, Alzheiemer’s disease

Relation: https://figshare.com/articles/dataset/Table_1_Genetic_Risk_Vascular_Function_and_Subjective_Cognitive_Complaints_Predict_Objective_Cognitive_Function_in_Healthy_Older_Adults_Results_From_the_Brain_in_Motion_Study_docx/13180703

الاتاحة: https://doi.org/10.3389/fnint.2020.571683.s001
https://figshare.com/articles/dataset/Table_1_Genetic_Risk_Vascular_Function_and_Subjective_Cognitive_Complaints_Predict_Objective_Cognitive_Function_in_Healthy_Older_Adults_Results_From_the_Brain_in_Motion_Study_docx/13180703