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المؤلفون: Miya Kudo Høffding, Eva Hoffmann, Vallari Shukla
المصدر: Shukla, V, Høffding, M K & Hoffmann, E R 2021, ' Genome diversity and instability in human germ cells and preimplantation embryos ', Seminars in Cell and Developmental Biology, vol. 113, pp. 132-147 . https://doi.org/10.1016/j.semcdb.2020.12.007Test
Seminars in Cell & Developmental Biologyمصطلحات موضوعية: 0301 basic medicine, Genome instability, Infertility, Rearrangements, DNA repair, DNA damage, Embryonic Development, Aneuploidy, Biology, DNA damage response, Genome, Article, Genomic Instability, 03 medical and health sciences, 0302 clinical medicine, Genome editing, medicine, Humans, Human oocytes and embryos, CNVs, Genetics, Genomic disorders, Cell Biology, medicine.disease, Germ Cells, 030104 developmental biology, Homologous recombination, 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::993ccc5178d17c191d6f8a25e2f2ca12Test
https://doi.org/10.1016/j.semcdb.2020.12.007Test -
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المؤلفون: Flora Y. Wong, Nicole J. Lake, Michael T. Ryan, Anne Marie E. Welch, Kazuhiro R. Nitta, Sarah E. Calvo, Yoshihito Kishita, Daniella H Hock, David A. Stroud, Simone Tregoning, Gareth Baynam, Michael Rodriguez, André E. Minoche, Susan Arbuckle, Kaustuv Bhattacharya, Yasushi Okazaki, David J. Amor, Akira Ohtake, George McGillivray, John Christodoulou, R. Jeroen Vermeulen, Mary Louise Freckmann, Atsuko Imai-Okazaki, Shanti Balasubramaniam, Carolyn Ellaway, Luke E. Formosa, David R. Thorburn, Marjo S van der Knaap, Alison G. Compton, Rocio Rius, Janice M. Fletcher, Mark J. Cowley, Cas Simons, Ann E. Frazier, Kei Murayama, Alexis Lucattini, Ryan J. Taft, Barry Lewis, David Francis, Simon Sadedin, Sumudu S.C. Amarasekera, Jafar S. Jabbari, Vamsi K. Mootha, Min Wang, Esko Wiltshire
المساهمون: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatric surgery, Functional Genomics, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience
المصدر: Frazier, A E, Compton, A G, Kishita, Y, Hock, D H, Welch, A M E, Amarasekera, S S C, Rius, R, Formosa, L E, Imai-Okazaki, A, Francis, D, Wang, M, Lake, N J, Tregoning, S, Jabbari, J S, Lucattini, A, Nitta, K R, Ohtake, A, Murayama, K, Amor, D J, McGillivray, G, Wong, F Y, van der Knaap, M S, Vermeulen, R J, Wiltshire, E J, Fletcher, J M, Lewis, B, Baynam, G, Ellaway, C, Balasubramaniam, S, Bhattacharya, K, Freckmann, M L, Arbuckle, S, Rodriguez, M, Taft, R J, Sadedin, S, Cowley, M J, Minoche, A E, Calvo, S E, Mootha, V K, Ryan, M T, Okazaki, Y, Stroud, D A, Simons, C, Christodoulou, J & Thorburn, D R 2021, ' Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus ', Med, vol. 2, no. 1, pp. 49-73.e10 . https://doi.org/10.1016/j.medj.2020.06.004Test
Med, 2(1), 49-73.e10. Cell Pressمصطلحات موضوعية: quantitative proteomics, COMPUTATIONAL PLATFORM, Translation to Patients, Mitochondrial disease, Pontocerebellar hypoplasia, segmental duplication, Locus (genetics), Biology, HIGH-THROUGHPUT, Genome, GENOMIC DISORDERS, SDG 3 - Good Health and Well-being, medicine, de novo duplication, genomics, Copy-number variation, COPY-NUMBER VARIANTS, ATAD3, Exome sequencing, Segmental duplication, Genetics, ARCHITECTURE, MEMBRANE-PROTEIN, MUTATIONS, CHOLESTEROL, General Medicine, DNA, medicine.disease, COMPLEX I DEFICIENCY, mitochondrial disease, perinatal death, Human genome, cardiomyopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b50f10f2b85c45465523a075c89ba3ffTest
https://research.vumc.nl/en/publications/1832e9e2-32f9-4c73-848a-8df349686c9dTest -
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المؤلفون: Brittany Grommisch, Michele Spencer-Manzon, Qinghua Zhou, Peining Li, James L. McGrath, Allen E. Bale, Hongyan Chai, Maurice J. Mahoney, Jiadi Wen, Fang Xu, Hui Zhang, Autumn DiAdamo
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 10 (2019)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Down syndrome, pathogenic copy number variants, lcsh:QH426-470, Population, 03 medical and health sciences, 0302 clinical medicine, microdeletions and microduplications, DiGeorge syndrome, Turner syndrome, Genetics, medicine, diagnostic accuracy and efficacy, Copy-number variation, prenatal and pediatric diagnosis, education, Genetics (clinical), Original Research, Fetus, education.field_of_study, medicine.diagnostic_test, business.industry, recurrent genomic disorders, medicine.disease, relative frequency, lcsh:Genetics, chromosomal abnormalities, 030104 developmental biology, 030220 oncology & carcinogenesis, Molecular Medicine, abnormality detection rate, business, Fluorescence in situ hybridization, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a0e89ec6d6e5493ca4359bb6826d1eTest
https://doi.org/10.3389/fgene.2019.01162Test -
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المؤلفون: Enrico Grosso, A. Maffe, Malte Spielmann, L Sorasio, G. Zacchetti, E. Di Gregorio, Elisa Savin, Roberto Keller, A. Guala, Irene Bagnasco, M. Cirillo Silengo, Marina Gandione, Cecilia Mancini, S De Rubeis, Marta Ferrero, Elisa Giorgio, Giorgia Mandrile, Alessandro Calcia, F. Talarico, Giorgia Gai, Fabio Sirchia, Paolo Provero, V. G. Naretto, Simona Cavalieri, Alessandro Brussino, Daniela Giachino, S. Ungari, Evelise Riberi, Gabriella Restagno, Alfredo Brusco, Patrizia Pappi, Barbara Pasini, Elga Fabia Belligni, Andrea Zonta, M. De Marchi, Mara Giordano, Joseph D. Buxbaum, Diana Carli, Elisa Biamino, Alessandra Pelle, Giovanni Battista Ferrero, Ugo Ala, C. Arduino
المصدر: Clinical Genetics. 92:415-422
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Adolescent, DNA Copy Number Variations, Developmental Disabilities, CNV, autism spectrum disorder, Biology, Chromosomal Position Effects, Young Adult, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Child, genomic disorders, Gene, Genetic Association Studies, Genetics (clinical), Sequence Deletion, Chromosome Aberrations, Comparative Genomic Hybridization, array-CGH, developmental delay, intellectual disability, Infant, Genomics, medicine.disease, Phenotype, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Autism spectrum disorder, Child, Preschool, Cohort, Female, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a801c78f604f6776fe5565bea502f4Test
https://doi.org/10.1111/cge.13009Test -
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المؤلفون: Adele Mitrotti, David Fasel, Nan Wu, Joanna A.E. van Wijk, Monica Bodria, Jeremiah Martino, Alejandra Perez, Marcin Tkaczyk, Loreto Gesualdo, Katarzyna Zachwieja, Marcin Zaniew, Giorgio Piaggio, Miguel Verbitsky, Brynn Levy, Virginia E. Papaioannou, Zoran Gucev, Marijan Saraga, Piotr Adamczyk, David E. Barton, Velibor Tasic, Craig S. Wong, Maria Szczepańska, Rik Westland, Valeria Manca, Jun Zhang, Alba Carrea, Fangming Lin, Robert Pawluch, Pasquale Casale, Landino Allegri, Krzysztof Kiryluk, Matthew G. Sampson, Daniele Cusi, Charlly Kao, Max Werth, Shumyle Alam, Young Ji Na, Claudia Izzi, Isabella Pisani, Mark G Dobson, Grażyna Krzemień, Giovanni Conti, Dorota Drozdz, John M Darlow, Shirlee Shril, Patricia L. Weng, Tze Y Lim, Friedhelm Hildebrandt, Monika Miklaszewska, Giuseppe Masnata, Domenico Santoro, Ana Cristina Simões-e-Silva, Byum Hee Kil, Cathy Mendelsohn, Hakon Hakonarson, Przemysław Sikora, Anna Latos-Bielenska, Simone Sanna-Cherchi, Josep M. Campistol, Anna Krakowska, Cécile Jeanpierre, Pasquale Zamboli, Débora Marques de Miranda, Hope White, Francesco Scolari, Dina Ahram, Ekaterina Batourina, Anna Materna-Kiryluk, Valentina P Capone, Eduardo A. Oliveira, Maddalena Marasa, Tomasz Jarmoliński, Jonathan Barasch, Asaf Vivante, Prem Puri, Ali G. Gharavi, Feng Zhang, Priya Krithivasan, Małgorzata Mizerska-Wasiak, Erin L. Heinzen, Maria K Borszewska-Kornacka, Lida Rodas, Bradley A. Warady, Maddalena Gigante, Agnieszka Szmigielska, Qingxue Liu, Susan L. Furth, Vladimir J Lozanovski, Gian Marco Ghiggeri, Daria Tomczyk
المساهمون: Amsterdam Reproduction & Development (AR&D), ACS - Microcirculation, Paediatric Nephrology
المصدر: Nature genetics
51 (2019): 117–+. doi:10.1038/s41588-018-0281-y
info:cnr-pdr/source/autori:Verbitsky, Miguel; Westland, Rik; Perez, Alejandra; Kiryluk, Krzysztof; Liu, Qingxue; Krithivasan, Priya; Mitrotti, Adele; Fasel, David A.; Batourina, Ekaterina; Sampson, Matthew G.; Bodria, Monica; Werth, Max; Kao, Charlly; Martino, Jeremiah; Capone, Valentina P.; Vivante, Asaf; Shril, Shirlee; Kil, Byum Hee; Marasa, Maddalena; Zhang, Jun Y.; Na, Young-Ji; Lim, Tze Y.; Ahram, Dina; Weng, Patricia L.; Heinzen, Erin L.; Carrea, Alba; Piaggio, Giorgio; Gesualdo, Loreto; Manca, Valeria; Masnata, Giuseppe; Gigante, Maddalena; Cusi, Daniele; Izzi, Claudia; Scolari, Francesco; van Wijk, Joanna A. E.; Saraga, Marijan; Santoro, Domenico; Conti, Giovanni; Zamboli, Pasquale; White, Hope; Drozdz, Dorota; Zachwieja, Katarzyna; Miklaszewska, Monika; Tkaczyk, Marcin; Tomczyk, Daria; Krakowska, Anna; Sikora, Przemyslaw; Jarmolinski, Tomasz; Borszewska-Kornacka, Maria K.; Pawluch, Robert; Szczepanska, Maria; Adamczyk, Piotr; Mizerska-Wasiak, Malgorzata; Krzemien, Grazyna; Szmigielska, Agnieszka; Zaniew, Marcin; Dobson, Mark G.; Darlow, John M.; Puri, Prem; Barton, David E.; Furth, Susan L.; Warady, Bradley A.; Gucev, Zoran; Lozanovski, Vladimir J.; Tasic, Velibor; Pisani, Isabella; Allegri, Landino; Rodas, Lida M.; Campistol, Josep M.; Jeanpierre, Cecile; Alam, Shumyle; Casale, Pasquale; Wong, Craig S.; Lin, Fangming; Miranda, Debora M.; Oliveira, Eduardo A.; Simoes-e-Silva, Ana Cristina; Barasch, Jonathan M.; Levy, Brynn; Wu, Nan; Hildebrandt, Friedhelm; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Zhang, Feng; Hakonarson, Hakon; Papaioannou, Virginia E.; Mendelsohn, Cathy L.; Gharavi, Ali G.; Sanna-Cherchi, Simone/titolo:The copy number variation landscape of congenital anomalies of the kidney and urinary tract/doi:10.1038%2Fs41588-018-0281-y/rivista:Nature genetics (Print)/anno:2019/pagina_da:117/pagina_a:+/intervallo_pagine:117–+/volume:51
Volume 51
Issue 1
Nature Genetics, 51(1), 117-127. Nature Publishing Group
Nature genetics, 51(1), 117-127. Nature Publishing Groupمصطلحات موضوعية: Male, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, endocrine system diseases, Kidney, 0302 clinical medicine, Copy-number variation, deletion, Urinary Tract, Obstructive uropathy, Genetics, 0303 health sciences, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Genomics, digeorge-syndrome, Microdeletion syndrome, 3. Good health, medicine.anatomical_structure, Female, vitamin-a, branching morphogenesis, Chromosome Deletion, candidate genes, renal replacement therapy, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Urinary system, Locus (genetics), Biology, Vesicoureteral reflux, Article, 03 medical and health sciences, mental disorders, medicine, Humans, Genetic Predisposition to Disease, genomic disorders, 030304 developmental biology, Vesico-Ureteral Reflux, disease, Extramural, rare variants, medicine.disease, mutations, Urogenital Abnormalities, 030217 neurology & neurosurgery, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48219869787b36614865b1a53822277Test
https://ruj.uj.edu.pl/xmlui/handle/item/108818Test -
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المؤلفون: Lies H. Hoefsloot, P. Martin van Hagen, L. Ingeborgh van den Born, Carel B. Hoyng, Kornelia Neveling, Frans P.M. Cremers, Mieke Kipping-Geertsema, Anna M. Siemiatkowska, Anneke I. den Hollander, Rob W.J. Collin, Monique Stoffels, Anna Simon, Arjen Henkes
المساهمون: Immunology, Ophthalmology
المصدر: Ophthalmology, 120, 2697-705
Ophthalmology, 120(12), 2697-2705. Elsevier Inc.
Ophthalmology, 120, 12, pp. 2697-705مصطلحات موضوعية: Adult, Male, Proband, Oncology, medicine.medical_specialty, Pathology, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Visual Acuity, Mevalonic Acid, Compound heterozygosity, Genomic disorders and inherited multi-system disorders [IGMD 3], Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Internal medicine, Retinitis pigmentosa, Electroretinography, medicine, Humans, Exome, Fluorescein Angiography, Exome sequencing, Mevalonate kinase deficiency, biology, business.industry, Genetic heterogeneity, Mevalonate kinase, Middle Aged, medicine.disease, Pedigree, Pathogenesis and modulation of inflammation [N4i 1], Phosphotransferases (Alcohol Group Acceptor), Ophthalmology, Mutation, biology.protein, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Retinitis Pigmentosa, Tomography, Optical Coherence
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b23a34004ac4b791b1b83b121055c17Test
https://doi.org/10.1016/j.ophtha.2013.07.052Test -
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المؤلفون: Hannes Helgason, Asbjorg Geirsdottir, Unnur Thorsteinsdottir, Haraldur Sigurdsson, Yaojun Song, Yaou Duan, G. Bragi Walters, Johannes P. H. van de Ven, Hongrong Luo, Tina Ristau, Frederieke E. Schoenmaker-Koller, Kang Zhang, Carel B. Hoyng, Ling Zhao, Paul S. Bernstein, Lambertus A. Kiemeney, Shirrina Patel, Camiel J. F. Boon, Sascha Fauser, Hreinn Stefansson, Olafur T. Magnusson, Gudleif Helgadottir, Gisli Masson, Kari Stefansson, Patrick Sulem, Ingileif Jonsdottir, Michelle Pei, Henry Ferreyra, Einar Stefánsson, Fridbert Jonasson, Thorunn Rafnar, Sandra Liakopoulos, Daniel F. Gudbjartsson, Anneke I. den Hollander, Gudmar Thorleifsson, Maheswara R Duvvari, Augustine Kong
المصدر: Nature Genetics, 45, 1371-4
Nature Genetics, 45, 11, pp. 1371-4
Nature Genetics, 45(11), 1371-U153مصطلحات موضوعية: Risk, Nonsynonymous substitution, medicine.medical_specialty, Genotype, Iceland, Aetiology, screening and detection [ONCOL 5], Complement factor I, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders [IGMD 3], Macular Degeneration, Gene Frequency, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Molecular genetics, Genetic variation, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Complement Activation, Molecular epidemiology Aetiology, screening and detection [NCEBP 1], Sequence (medicine), Base Sequence, Genetic Variation, Complement C3, Sequence Analysis, DNA, Macular degeneration, medicine.disease, Amino Acid Substitution, Complement Factor H, Complement C3b, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a384c0fcdb1e74be68da544ed189cccTest
https://doi.org/10.1038/ng.2740Test -
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المؤلفون: Ad R. M. M. Hermus, K. Freriks, Hanneke Mieloo, Maaike A.F. Traas, Henri J L M Timmers, Dominique Smeets, Romana T. Netea-Maier, Janiëlle A E M van Alfen-van der Velden, Barto J. Otten, Catharina C. M. Beerendonk, Guillaume van de Zande, Lies H. Hoefsloot
المصدر: European Journal of Medical Genetics, 56, 9, pp. 497-501
European Journal of Medical Genetics, 56, 497-501مصطلحات موضوعية: Adult, Monosomy, Pathology, medicine.medical_specialty, Buccal swab, Turner Syndrome, Gonadoblastoma, Biology, Real-Time Polymerase Chain Reaction, Y chromosome, Genomic disorders and inherited multi-system disorders [IGMD 3], Turner syndrome, Tissue mosaicism, Genetics, medicine, Humans, Hormonal regulation Translational research [IGMD 6], Genetic Predisposition to Disease, Lymphocytes, In Situ Hybridization, Fluorescence, Genetics (clinical), X chromosome, Ovarian Neoplasms, Chromosomes, Human, X, Chromosomes, Human, Y, Mosaicism, Hormonal regulation [IGMD 6], Mouth Mucosa, Karyotype, General Medicine, medicine.disease, Human Reproduction [NCEBP 12], Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::116177bcd37fd78bae5eb92f1fd873efTest
https://doi.org/10.1016/j.ejmg.2013.07.008Test -
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المؤلفون: Arjan P.M. de Brouwer, Angel Ashikov, Rita Gerardy-Schahn, Samuel Schmidt, Joris H. Robben, Miski Mohamed, Maïlys Guillard, Ron A. Wevers, B. van den Heuvel, Peter M.T. Deen, Eva Morava, Dirk Lefeber
المصدر: Neurology, 81, 7, pp. 681-7
Neurology, 81, 681-7مصطلحات موضوعية: Male, Chemical and physical biology [NCMLS 7], medicine.medical_specialty, Glycosylation, Ataxia, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], DCN MP - Plasticity and memory, Blotting, Western, DNA Mutational Analysis, Mutant, Mutation, Missense, Biology, Hemorrhagic Disorders, medicine.disease_cause, Polymorphism, Single Nucleotide, Renal disorder Energy and redox metabolism [IGMD 9], Abnormal protein glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Intellectual Disability, Internal medicine, medicine, Humans, Missense mutation, Child, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Genetics, Mutation, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], medicine.disease, Disease gene identification, Pedigree, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Renal disorder Membrane transport and intracellular motility [IGMD 9], carbohydrates (lipids), Bleeding diathesis, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Endocrinology, Cytidine Monophosphate N-Acetylneuraminic Acid, Nucleotide Transport Proteins, Mutation testing, Female, Neurology (clinical), medicine.symptom
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd2210be2243f322d3a0fb594dd4238Test
https://doi.org/10.1212/wnl.0b013e3182a08f53Test -
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المؤلفون: Arjen R. Mensenkamp, Ron A. Wevers, Jyotsna U. Rao, Angelina G. Goudswaard, Henricus P.M. Kunst, Udo F. H. Engelke, Karel Pacak, Graeme Eisenhofer, Nan Qin, Ad Hermus, Jacques W. M. Lenders, Richard J. Rodenburg, Henri J. L. M. Timmers, Benno Kusters, Fred C.G.J. Sweep
المصدر: Clinical Cancer Research; Vol 19
Clinical Cancer Research, 19, 3787-95
Clinical Cancer Research, 19, 14, pp. 3787-95مصطلحات موضوعية: Male, Cancer Research, SDHB, Adrenal Gland Neoplasms, Succinic Acid, DCN PAC - Perception action and control, Mitochondrion, Catecholamines, 0302 clinical medicine, Paraganglioma, Citrate synthase, 0303 health sciences, Cardiovascular diseases [NCEBP 14], Electron Transport Complex II, Succinate dehydrogenase, Middle Aged, Mitochondria, 3. Good health, Mitochondrial medicine [IGMD 8], Oncology, 030220 oncology & carcinogenesis, Female, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Genotype, Pheochromocytoma, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, Internal medicine, ONCOL 3 - Translational research DCN MP - Plasticity and memory, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3], Hormonal regulation [IGMD 6], Glycostation disorders [IGMD 4], medicine.disease, Endocrinology, Hereditary cancer and cancer-related syndromes Genomic disorders and inherited multi-system disorders [ONCOL 1], biology.protein, Catecholamine, Hormonal regulation Aetiology, screening and detection [IGMD 6], SDHD, Energy Metabolism
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8b55612d5f34a85347800592c9f568Test
https://doi.org/10.1158/1078-0432.ccr-12-3922Test