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1دورية أكاديميةRare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
المؤلفون: Farah Qaiser, Yue Yin, Carolyn B. Mervis, Colleen A. Morris, Bonita P. Klein-Tasman, Elaine Tam, Lucy R. Osborne, Ryan K. C. Yuen
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
مصطلحات موضوعية: 7q11.23 duplication syndrome, Autism spectrum disorder, Phenotypic variability, Single nucleotide variant, Copy number variant, Whole genome sequencing, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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المؤلفون: Emanuel Cassou, Luciano De Paola, Salmo Raskin, Paula Marques, Quratulain Zulfiqar Ali, Farah Qaiser, Danielle Andrade, Helio Afonso Teive
المصدر: Tuesday, April 25.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e6c16aaa5f9435f5590b0356a2a271eb
https://doi.org/10.1212/wnl.0000000000203394 -
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المؤلفون: Bahareh A. Mojarad, Farah Qaiser, Ryan K. C. Yuen
المصدر: Neurodevelopmental Pediatrics ISBN: 9783031207914
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::802793b94300107cebebc413b8925320
https://doi.org/10.1007/978-3-031-20792-1_18 -
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المؤلفون: Farah Qaiser, Maryam Zaringhalam, Francesca Bernardi, Jess Wade, Emily Pinckney
المصدر: Nature.
مصطلحات موضوعية: Multidisciplinary
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المؤلفون: Quratulain Zulfiqar Ali, Farah Qaiser, Christopher E. Pearson, Charlotte Nguyen, Ryan K. C. Yuen, Yue Yin, Danielle M. Andrade, Tara Sadoway, Sepideh Tabarestani, Renato P. Munhoz, Timo Krings, Ian Backstrom, Natalie Shum, Paula T Marques
المصدر: Brain Communications
مصطلحات موضوعية: Biology, Genome, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Tandem repeat, Genetic variation, medicine, Copy-number variation, DIP2B, Exome sequencing, 030304 developmental biology, Genetics, Whole genome sequencing, 0303 health sciences, AcademicSubjects/SCI01870, General Engineering, medicine.disease, tandem repeats, ATXN80S, whole-genome sequencing, Spinocerebellar ataxia, Original Article, AcademicSubjects/MED00310, 030217 neurology & neurosurgery, Lennox–Gastaut syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcea450d302430d42825a1e4bdf5ac64
http://europepmc.org/articles/PMC8491034 -
6Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
المؤلفون: Elaine Tam, Farah Qaiser, Ryan K. C. Yuen, Bonita P. Klein-Tasman, Lucy R. Osborne, Colleen A. Morris, Carolyn B. Mervis, Yue Yin
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: DNA Copy Number Variations, genetic structures, lcsh:Medicine, Biology, Copy number variant, behavioral disciplines and activities, 03 medical and health sciences, Phenotypic variability, 0302 clinical medicine, Pregnancy, 7q11.23 duplication syndrome, mental disorders, Gene duplication, medicine, Humans, Missense mutation, Pharmacology (medical), Copy-number variation, Autism spectrum disorder, Gene, Genetics (clinical), 030304 developmental biology, Genetics, Whole genome sequencing, 0303 health sciences, Research, lcsh:R, Genomics, General Medicine, medicine.disease, Phenotype, Human genetics, Single nucleotide variant, Female, Chromosome Deletion, 030217 neurology & neurosurgery
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المؤلفون: Rana Dajani, Elham Kateeb, Yara Saifi, Maha Samman, Rosie Dutt, Farah Qaiser
المصدر: Nature. 602:211-211
مصطلحات موضوعية: Multidisciplinary, International Cooperation, Politics, Humans, Female, Research Personnel, Arabs
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المؤلفون: Ryan K. C. Yuen, Farah Qaiser, Danielle M. Andrade
المصدر: Current neurology and neuroscience reports. 20(10)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Neurology, Biology, Germline, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Genetic variation, medicine, Humans, Gene, Genetics, Mechanism (biology), General Neuroscience, Tumor Suppressor Proteins, GTPase-Activating Proteins, medicine.disease, NPRL3, DEPDC5, Repressor Proteins, 030104 developmental biology, Mutation, Epilepsy, Generalized, Neurology (clinical), 030217 neurology & neurosurgery