نتائج البحث - "Helen Griffin"

المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP), Neurology, Laboratory Genetic Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ASLANGER, Ayça Dilruba, Université de Strasbourg (UNISTRA), MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D)

المصدر: American Journal of Human Genetics, 107, 2, pp. 311-324
American Journal of Human Genetics, 107(2), 311-324. CELL PRESS
American journal of human genetics, 107(2), 311-324. Cell Press
American Journal of Human Genetics, 107, 311-324
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.311-324. ⟨10.1016/j.ajhg.2020.06.016⟩
American Journal of Human Genetics, 107(2), 311-324. Cell Press
Manole, A, Efthymiou, S, O'Connor, E, Mendes, M I, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, M R, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, C S, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, L B, Kara, B, Aslanger, A D, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, K M, Wang, L, Rosti, R O, Paracha, S A, Sarwar, M T, Jenkins, D, Ahmed, J, Santoni, F A, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, I M, Guillen Sacoto, M J, Si, Y, Telegrafi, A, Andrews, M V, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, A J M, Stevens, S J C, Bähler, J, Nasar, A, Mantovani, J F, Manzur, A, Sarkozy, A, Smith, D E C, Salomons, G S, Ahmed, Z M, Riazuddin, S, Riazuddin, S, Usmani, M A, Seibt, A, Ansar, M, Antonarakis, S E, Vincent, J B, Ayub, M, Grimmel, M, Jelsig, A M, Hjortshøj, T D, Karstensen, H G, Hummel, M, Haack, T B, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, J G, Becker, H, Mandel, J L, Koolen, D A, Houlden, H & SYNAPS Study Group 2020, ' De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects ', American journal of human genetics, vol. 107, no. 2, pp. 311-324 . https://doi.org/10.1016/j.ajhg.2020.06.016Test
Am J Hum Genet

مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Developmental delay, [SDV]Life Sciences [q-bio], Aspartate-tRNA Ligase, TRANSFER-RNA SYNTHETASE, RNA, Transfer, Amino Acyl, 0302 clinical medicine, RNA, Transfer, Loss of Function Mutation, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), next generation sequencing, chemistry.chemical_classification, Genetics, neurodevelopment, Stem Cells, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Neural stem cell, Pedigree, Amino acid, developmental delay, Gain of Function Mutation, Transfer RNA, Female, Amino Acyl, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], EXPRESSION, Ataxia, Biology, Article, Cell Line, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, aminoacyl-tRNA synthetase, epilepsy, neuropathy, Alleles, Genetic Predisposition to Disease, Humans, Neurodevelopmental Disorders, 2 SIBLINGS, medicine, Allele, Epilepsy, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, medicine.disease, Transfer, 030104 developmental biology, Enzyme, chemistry, Aminoacyl-tRNA synthetase, RNA, 030217 neurology & neurosurgery, Function (biology)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a52bcefda63010f9428f83b46704ce25Test
https://doi.org/10.1016/j.ajhg.2020.06.016Test

5

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

المؤلفون: Amelia, Shoemark, Helen, Griffin, Gabrielle, Wheway, Claire, Hogg, Jane S, Lucas, Carme, Camps, Jenny, Taylor, Mary, Carroll, Michael R, Loebinger, James D, Chalmers, Deborah, Morris-Rosendahl, Hannah M, Mitchison, Anthony, De Soyza, D, Brown, J C, Ambrose, P, Arumugam, R, Bevers, M, Bleda, F, Boardman-Pretty, C R, Boustred, H, Brittain, M J, Caulfield, G C, Chan, T, Fowler, A, Giess, A, Hamblin, S, Henderson, T J P, Hubbard, R, Jackson, L J, Jones, D, Kasperaviciute, M, Kayikci, A, Kousathanas, L, Lahnstein, S E A, Leigh, I U S, Leong, F J, Lopez, F, Maleady-Crowe, M, McEntagart, F, Minneci, L, Moutsianas, M, Mueller, N, Murugaesu, A C, Need, P, O'Donovan, C A, Odhams, C, Patch, D, Perez-Gil, M B, Pereira, J, Pullinger, T, Rahim, A, Rendon, T, Rogers, K, Savage, K, Sawant, R H, Scott, A, Siddiq, A, Sieghart, S C, Smith, A, Sosinsky, A, Stuckey, M, Tanguy, A L, Taylor Tavares, E R A, Thomas, S R, Thompson, A, Tucci, M J, Welland, E, Williams, K, Witkowska, S M, Wood

المصدر: The European respiratory journal. 60(5)

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Kartagener Syndrome, Mutation, Humans, Cilia, Ciliopathies, Bronchiectasis, Ciliary Motility Disorders

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74d86413d894f99a8f8c718a94a0c223Test
https://pubmed.ncbi.nlm.nih.gov/35728977Test

6

Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency

المؤلفون: Florian Gothe, Jarmila Stremenova Spegarova, Catherine F. Hatton, Helen Griffin, Thomas Sargent, Sally A. Cowley, William James, Anna Roppelt, Anna Shcherbina, Fabian Hauck, Hugh T. Reyburn, Christopher J.A. Duncan, Sophie Hambleton

المصدر: The Journal of allergy and clinical immunology. 150(4)

مصطلحات موضوعية: Factor IX, STAT1 Transcription Factor, Immunology, Interferon Type I, Immunology and Allergy, Humans, Interferon-alpha, STAT2 Transcription Factor, Ubiquitin-Specific Proteases, Ubiquitin Thiolesterase, Interferon-Stimulated Gene Factor 3, gamma Subunit

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a16403a3f5aad639873ed5c5807348c9Test
https://pubmed.ncbi.nlm.nih.gov/35182547Test

7

Congenital Nephrotic Syndrome in IL7Rα-SCID: A Rare Feature of Maternofetal Graft-Versus-Host Disease

المؤلفون: Christo Tsilifis, Ana Cordeiro, Andrew R. Gennery, João Farela Neves, Mary Slatter, Sophie Hambleton, Helen Griffin, Karin R. Engelhardt

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Proteinuria, Nephrotic Syndrome, business.industry, Graft vs Host Disease, Congenital nephrotic syndrome, medicine.disease, Graft-versus-host disease, Feature (computer vision), medicine, HDE PED, Immunology and Allergy, Humans, medicine.symptom, business, Nephrotic syndrome, IL7Rα-SCID

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46f0719154cfc354b7d6c6a4a8b93ad1Test
https://hdl.handle.net/10400.17/4071Test

8

A Whole-School Approach to Gender Equality: Rationale and Country Contexts

المؤلفون: Dorottya Rédai, Helen Griffin, Valentina Guerrini

المصدر: Gender Equality and Stereotyping in Secondary Schools ISBN: 9783030641252

مصطلحات موضوعية: Value (ethics), Structure (mathematical logic), Gender equality, Politics, Work (electrical), Whole school, business.industry, Charter, Sociology, Public relations, business, Terminology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0ddc35e0efc7784ffee35112da3aa36aTest
https://doi.org/10.1007/978-3-030-64126-9_1Test

9

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

المساهمون: Powell, Christopher [0000-0001-7501-0586], Joost, Kairit [0000-0003-2544-3230], Minczuk, Michal [0000-0001-8242-1420], Chinnery, Patrick F [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: The EMBO Journal

مصطلحات موضوعية: Male, Proteomics, reversible infantile respiratory chain deficiency, Mitochondrial Diseases, Medizin, Gene Expression, medicine.disease_cause, igenic inheritance, digenic inheritance, Quadriceps Muscle, 0302 clinical medicine, Mitochondrial myopathy, Membrane & Intracellular Transport, 0303 health sciences, Mutation, tRNA Methyltransferases, General Neuroscience, Mitochondrial Myopathies, Articles, Digenic inheritance, Penetrance, 3. Good health, Mitochondria, Pedigree, homoplasmic tRNA mutation, Female, medicine.medical_specialty, Mitochondrial DNA, Adolescent, Mitochondrial disease, Biology, DNA, Mitochondrial, General Biochemistry, Genetics and Molecular Biology, Article, Cell Line, Mitochondrial Proteins, 03 medical and health sciences, Lipid oxidation, Internal medicine, medicine, Humans, Molecular Biology, 030304 developmental biology, General Immunology and Microbiology, mitochondrial myopathy, Infant, medicine.disease, Endocrinology, Metabolism, Mitochondrial biogenesis, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7702b627553ef1fc91f44444ca1ad45dTest
http://europepmc.org/articles/PMC7705457Test

10

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels

المؤلفون: Benjamin Munro, Claudia Schneider, Romance A Zendah, Juliane S Müller, Rita Horvath, Helen Griffin, Graeme R. Wells, David T. Burns

المساهمون: Griffin, Helen [0000-0002-5288-3322], Zendah, Romance A [0000-0001-8184-3074], Munro, Benjamin [0000-0003-4506-7092], Schneider, Claudia [0000-0001-5597-2489], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Life Science Alliance

مصطلحات موضوعية: Adult, Male, Exosome complex, Health, Toxicology and Mutagenesis, Mutant, Pontocerebellar hypoplasia, Ribosome biogenesis, Plant Science, Biology, Exosomes, Biochemistry, Genetics and Molecular Biology (miscellaneous), Exosome, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Cerebellar Diseases, Cell Line, Tumor, medicine, Animals, Humans, Zebrafish, Research Articles, 030304 developmental biology, 0303 health sciences, Ecology, Exosome Multienzyme Ribonuclease Complex, Homozygote, RNA-Binding Proteins, Zebrafish Proteins, medicine.disease, biology.organism_classification, Cell biology, Apoptosis, Mutation, Female, Tumor Suppressor Protein p53, Ribosomes, 030217 neurology & neurosurgery, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e690db510ea8ab7f7238fa28ac702aeTest

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