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1دورية أكاديمية
المؤلفون: Patricia J. Sullivan, Velimir Gayevskiy, Ryan L. Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J. McCabe, Sarah Beecroft, Matilda R. Jackson, Peer Arts, Andrew Dubowsky, Nigel Laing, Marcel E. Dinger, Hamish S. Scott, Emily Oates, Mark Pinese, Mark J. Cowley
المصدر: Genome Biology, Vol 24, Iss 1, Pp 1-18 (2023)
مصطلحات موضوعية: Splicing, Variant interpretation, Deep intronic, Splice region, Splice site, Intronic variant, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1474-760X
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2دورية أكاديمية
المؤلفون: Karagh E. Loring, Tessa Mattiske, Kristie Lee, Aneta Zysk, Matilda R. Jackson, Jeffrey L. Noebels, Cheryl Shoubridge
المصدر: Neurobiology of Disease, Vol 153, Iss , Pp 105329- (2021)
مصطلحات موضوعية: Childhood epilepsy, Genetics: epilepsy, Genetics: learning disability, Epilepsy: co-morbidity, Molecular genetics, Transcriptomics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Matilda R. Jackson, Kristie Lee, Tessa Mattiske, Emily J. Jaehne, Ezgi Ozturk, Bernhard T. Baune, Terence J. O'Brien, Nigel Jones, Cheryl Shoubridge
المصدر: Neurobiology of Disease, Vol 105, Iss , Pp 245-256 (2017)
مصطلحات موضوعية: Aristaless-related homeobox gene, Polyalanine tract expansion, Seizure phenotype, Intellectual disability, ISSX, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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4دورية أكاديمية
المصدر: Diseases, Vol 5, Iss 1, p 5 (2017)
مصطلحات موضوعية: mucopolysaccharidosis type I, substrate deprivation, rhodamine B, lysosomal storage disorder, glycosaminoglycans, Medicine
وصف الملف: electronic resource
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5
المؤلفون: Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek‐Kiper, Sarah M Nikkel, Hirofumi Ohashi, Roger E Stevenson, Thuong Ha, Denise P Cavalcanti, Hiroyuki Miyahara, Steven A Skinner, Miguel A Aguirre, Zühal Akçören, Gulen Eda Utine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray Boduroglu, Hannah W Moore, Raymond J Louie, Peer Arts, Allie N Merrihew, Milena Babic, Matilda R Jackson, Nikos Papadogiannakis, Anna Lindstrand, Ann Nordgren, Christopher P Barnett, Hamish S Scott, Andrei S Chagin, Gen Nishimura, Giedre Grigelioniene
المساهمون: Batkovskyte, Dominyka, McKenzie, Fiona, Taylan, Fulya, Simsek-Kiper, Pelin Ozlem, Ha, Thuong, Arts, Peer, Babic, Milena, Jackson, Matilda R., Scott, Hamish S., Grigelioniene, Giedre
المصدر: Journal of Bone and Mineral Research. 38:692-706
مصطلحات موضوعية: neonatal, Endocrinology, Diabetes and Metabolism, ADAMTSL2, Orthopedics and Sports Medicine, skeletal dysplasia
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6
المؤلفون: Wan Chin Liaw, Janice M. Fletcher, Peter Sharp, Matilda R. Jackson, Xiaodan Ding, Chun Ong, Xenia Kaidonis, Enzo Ranieri, Sharon Byers, Ainslie L.K. Derrick-Roberts
المساهمون: Derrick-Roberts, Ainslie, Kaidonis, Xenia, Jackson, Matilda R, Liaw, Wan Chin, Ding, XiaoDan, Ong, Chun, Ranieri, Enzo, Sharp, Peter, Fletcher, Janice, Byers, Sharon
المصدر: Molecular Genetics and Metabolism. 131:197-205
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Mucopolysaccharidosis I, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, G(M2) Ganglioside, Neuropathology, 030105 genetics & heredity, Biochemistry, Glycosaminoglycan, Mice, Mucopolysaccharidosis III, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Genetics, Animals, G(M3) Ganglioside, Humans, Medicine, Maze Learning, skin and connective tissue diseases, Molecular Biology, Glucuronidase, Glycosaminoglycans, Ganglioside, business.industry, Neurodegeneration, Mucopolysaccharidosis VII, Brain, medicine.disease, Disease Models, Animal, Heparitin Sulfate, business, 030217 neurology & neurosurgery
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7
المؤلفون: Jodie Ingles, Kathy H C Wu, Desiree Hilton, Michelle G. de Silva, Linda J. Wornham, Sophie Devery, Matilda R. Jackson, Michael C.J. Quinn, Clifford Afoakwah, Stefanie Elbracht-Leong, Alejandro Metke-Jimenez, Christopher Semsarian, Julie McGaughran, Angela Overkov, Gemma Correnti, Jaye S. Brown, Hugo Leroux, Ellenore M. Martin, John Atherton, Rachel Austin, Ivan Macciocca, Paul Anthony Scuffham, T. Thompson
المساهمون: Austin, Rachel, Quinn, Michael CJ, Afoakwah, Clifford, Metke-Jimenez, Alejandro, Jackson, Matilda R, McGaughran, Julie
مصطلحات موضوعية: Clinical audit, medicine.medical_specialty, Heart Diseases, Heart disease, Cardiomyopathy, audit, Telehealth, Audit, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Health care, medicine, Humans, 030212 general & internal medicine, cardiovascular genetics, Likely pathogenic, Clinical Audit, business.industry, Australia, Baseline data, medicine.disease, Telemedicine, Emergency medicine, genomic sequencing, Queensland, Cardiology and Cardiovascular Medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b9def0bf9b0f6a440bf2919f660ec2
https://hdl.handle.net/11541.2/147358 -
8
المؤلفون: Carlos H. Vieira-Vieira, Ajay Taranath, Achim Dickmanns, Ramona Jühlen, Sylvie Picker-Minh, Nuno Martins, Yuval Salzberg, Hamish S. Scott, Peer Arts, Thuong Ha, Paraskevi Bessa, Ethiraj Ravindran, Na Li, Gisela Stoltenburg-Didinger, Matilda R. Jackson, Boris Fichtman, Angela M. Kaindl, Birthe Fahrenkrog, Amnon Harel, Benjamin Kamien, Lena Luise-Becker, Hao Hu, Matthias Selbach, Victor Tarabykin, Christopher Barnett
المصدر: Human Molecular Genetics.
مصطلحات موضوعية: Genetics, 0303 health sciences, Microcephaly, Mutant, General Medicine, Biology, medicine.disease, Phenotype, Short stature, 03 medical and health sciences, 0302 clinical medicine, Seckel syndrome, medicine, Nucleoporin, medicine.symptom, Molecular Biology, Nephrotic syndrome, Gene, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cc21b12d915fc61434d361bca0460169
https://doi.org/10.1093/hmg/ddab160 -
9
المؤلفون: Ainslie Derrick-Roberts, Xenia Kaidonis, Matilda R. Jackson, Wan Chin Liaw, XiaoDan Ding, Chun Ong, Enzo Ranieri, Peter Sharp, Janice Fletcher, Sharon Byers
المصدر: Molecular Genetics and Metabolism. 135:114
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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10
المؤلفون: Aneta Zysk, Tessa Mattiske, Karagh E. Loring, Kristie Lee, Matilda R. Jackson, Cheryl Shoubridge, Jeffrey L. Noebels
المصدر: Neurobiology of Disease, Vol 153, Iss, Pp 105329-(2021)
مصطلحات موضوعية: 0301 basic medicine, Refractory seizures, medicine.medical_specialty, Childhood epilepsy, Genetics: learning disability, lcsh:RC321-571, Transcriptome, 03 medical and health sciences, Mice, 0302 clinical medicine, Seizures, Molecular genetics, Internal medicine, Early Medical Intervention, Intellectual Disability, Genotype, medicine, Genetics: epilepsy, Aristaless Related Homeobox Gene, Transcriptome Profiles, Animals, Humans, Transcriptomics, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Homeodomain Proteins, Epilepsy: co-morbidity, Behavior, Animal, Estradiol, business.industry, Infant, Newborn, Estrogens, 030104 developmental biology, Endocrinology, Neurology, Animals, Newborn, Gene Expression Regulation, Neurodevelopmental Disorders, Homeobox, business, Peptides, Estradiol treatment, Spasms, Infantile, 030217 neurology & neurosurgery, Transcription Factors