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المؤلفون: Deepika Kour Sodhi, Randi Hagerman
المصدر: Pharmacogenomics and Personalized Medicine
مصطلحات موضوعية: Pharmacology, congenital, hereditary, and neonatal diseases and abnormalities, exercise, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, fragile X premutation, Pharmacology and Pharmaceutical Sciences, Review, fragile X mental retardation 1, FXAND, Brain Disorders, Rare Diseases, Mental Health, antioxidants, Clinical Research, Fragile X Syndrome, Genetics, Molecular Medicine, medication, FXTAS, FMR1, FXPOI
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbbccf4e4ac82cf5237a946ac94eb577Test
http://europepmc.org/articles/PMC8721286Test -
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المؤلفون: Tatsushi Toda, Atsuhiko Sugiyama, Shoji Tsuji, Hiroyuki Ishiura, Takashi Matsukawa, Asem Almansour, Jun Mitsui, Miho Matsukawa, Hideaki Shimizu
المصدر: The Cerebellum. 21:954-962
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Ataxia, Cerebellar ataxia, business.industry, Pcr cloning, Japanese population, medicine.disease, FMR1, Atrophy, Neurology, medicine, In patient, Neurology (clinical), Allele, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a765288fe98543d2662de3021a5cfb9dTest
https://doi.org/10.1007/s12311-021-01329-5Test -
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المؤلفون: Tatsuaki Kurosaki, Lynne E. Maquat, Alexander Hewko, Jason Wheeler, Hitomi Sakano, Christoph Pröschel
المصدر: Genome Biology, Vol 22, Iss 1, Pp 1-13 (2021)
Genome Biologyمصطلحات موضوعية: Cerebellum, congenital, hereditary, and neonatal diseases and abnormalities, Mouse brain development, QH301-705.5, Short Report, Hippocampus, Biology, QH426-470, Fragile X Mental Retardation Protein, Mice, medicine, Genetics, Animals, Humans, Biology (General), Fragile X protein (FMRP), Upframeshift protein 1 (UPF1), Cerebral Cortex, Mice, Knockout, Neurons, Brain Diseases, Brain, medicine.disease, FMR1, Nonsense Mediated mRNA Decay, Cell biology, Cortex (botany), nervous system diseases, Mice, Inbred C57BL, Fragile X syndrome, Fmr1-KO mouse, Disease Models, Animal, medicine.anatomical_structure, Cerebral cortex, Fragile X Syndrome, Knockout mouse, Cortex, Stem cell, Nonsense-mediated mRNA decay (NMD)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3829ea948e80493e7de2d6390dc1d3bTest
https://doaj.org/article/a0a799aab3524b98be9f5f34a7a8b37cTest -
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المؤلفون: Bruce Bennetts, David Francis, David J. Amor, Alison D Archibald, Rob Thomas, Gladys Ho, Essra Bartlett, Martin B. Delatycki, Gemma O'Farrell, Gabrielle Chandler, Emma Baker, Alison Pandelache, Katrina Fisk, Ling Ling, David E. Godler, Lisa Ward
المصدر: American Journal of Medical Genetics Part A. 188:304-309
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Fragile x, Daughter, Ataxia, Offspring, media_common.quotation_subject, Normal function, Biology, medicine.disease, FMR1, nervous system diseases, Andrology, Fragile X syndrome, Genetics, medicine, medicine.symptom, Allele, Genetics (clinical), media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9b73de4df537d7d524617fc5d9db6baaTest
https://doi.org/10.1002/ajmg.a.62500Test -
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المؤلفون: Rozita Abdoli, Subha Karumuthil-Melethil, Yosuke Niibori, Alexander W.M. Hooper, David R. Hampson, Olivier Danos, Hayes Wong, Chunping Qiao, Joseph T. Bruder
المصدر: Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 22, Iss, Pp 196-209 (2021)مصطلحات موضوعية: Gene isoform, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Knockout rat, Transgene, autism, virus, QH426-470, Biology, cerebrospinal fluid, GABA, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Internal medicine, Genetics, medicine, EEG, sleep, Molecular Biology, 030304 developmental biology, Dominance (genetics), 0303 health sciences, QH573-671, interneurons, viral vector, AAV, medicine.disease, FMR1, Phenotype, nervous system diseases, 3. Good health, Fragile X syndrome, Endocrinology, epilepsy, Molecular Medicine, Original Article, Cytology, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57bc7c918cc34d19f59dd4201f282537Test
https://doi.org/10.1016/j.omtm.2021.06.013Test -
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المؤلفون: Adele Grasmane, Zane Vitina, Valerija Magomedova, Dmitrijs Rots, Linda Gailite
المصدر: Archives of Medical Science : AMS
مصطلحات موضوعية: Infertility, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, business.industry, Female infertility, General Medicine, medicine.disease, FMR1, nervous system diseases, Genotype frequency, Premature ovarian failure, Fragile X syndrome, Clinical Research, secondary infertility, FMR1gene, medicine, Allele, infertility, business, Gene, diminished ovarian reserve
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4793616ab9ae511382be6827df81bd71Test
https://doi.org/10.5114/aoms.2019.85154Test -
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المؤلفون: Chikara Dohno, Daria Niewiadomska, Anna Baud, Katarzyna Taylor, Krzysztof Sobczak, Patryk Konieczny, Agnieszka Walczak, Ewa Stepniak-Konieczna, Sanjukta Mukherjee, Agnieszka Piasecka, Kazuhiko Nakatani
المصدر: Nucleic Acids Research
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, AcademicSubjects/SCI00010, Cell, Apoptosis, Biology, Ligands, Fragile X Mental Retardation Protein, Trinucleotide Repeats, Tremor, RNA and RNA-protein complexes, Genetics, medicine, Humans, Naphthyridines, Nucleic acid structure, Cell Proliferation, Neurons, Messenger RNA, RNA, Translation (biology), Transfection, Surface Plasmon Resonance, FMR1, nervous system diseases, Cell biology, medicine.anatomical_structure, Fragile X Syndrome, Protein Biosynthesis, medicine.symptom, Peptides, Trinucleotide Repeat Expansion, HeLa Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c19261f4c341322535888439d1dcec98Test
https://doi.org/10.1093/nar/gkab669Test -
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المؤلفون: Furene S. Wang, Caroline G.L. Lee, Samuel S. Chong, Yanghong Gu, Jozef Gecz, Hai-Yang Law, David L. Nelson, Timing Liu, Marie Shaw, Felicia S.H. Cheah, Stacey K.H. Tay
المصدر: The Journal of Molecular Diagnostics. 23:941-951
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Population, Biology, Pathology and Forensic Medicine, Fragile X Mental Retardation Protein, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Polymorphism (computer science), Genotype, Humans, Genetic Predisposition to Disease, Genetic Testing, education, Alleles, Genetic Association Studies, Southern blot, Genetics, Sanger sequencing, education.field_of_study, Chromosomal fragile site, Electrophoresis, Capillary, Nuclear Proteins, Reproducibility of Results, FMR1, 030104 developmental biology, Fragile X Syndrome, 030220 oncology & carcinogenesis, symbols, Molecular Medicine, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Multiplex Polymerase Chain Reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7340d5ecabb8760c923c2f7a3b93a9d7Test
https://doi.org/10.1016/j.jmoldx.2021.04.015Test -
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المؤلفون: Carly Moser, Jessica Klusek, Katherine Bangert, Laura Friedman
المصدر: Seminars in Speech and Language. 42:277-286
مصطلحات موضوعية: Parents, congenital, hereditary, and neonatal diseases and abnormalities, Mothers, Context (language use), Developmental psychology, Fragile X Mental Retardation Protein, 03 medical and health sciences, Speech and Hearing, 0302 clinical medicine, medicine, Humans, 0501 psychology and cognitive sciences, Depression (differential diagnoses), 05 social sciences, Genetic disorder, Cognition, LPN and LVN, medicine.disease, FMR1, Child development, Fragile X syndrome, Phenotype, Fragile X Syndrome, Anxiety, Female, medicine.symptom, Psychology, 030217 neurology & neurosurgery, 050104 developmental & child psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac8746d5b5611a2473d7aaf3ca829a58Test
https://doi.org/10.1055/s-0041-1730988Test -
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المؤلفون: César Payán-Gómez, Wilmar Saldarriaga, Julián Ramírez-Cheyne
المصدر: The Application of Clinical Genetics
مصطلحات موضوعية: Genetics, modifier, congenital, hereditary, and neonatal diseases and abnormalities, mosaicisms, Macroorchidism, Review, Biology, medicine.disease, FMR1, Penetrance, Fragile X syndrome, Autism spectrum disorder, Intellectual disability, medicine, Autism, methylation, Allele, FMRP, genes, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff70a77a8c247f68d520fcaeb1ee576cTest
https://doi.org/10.2147/tacg.s265835Test