المؤلفون: Lara M. Marten, Florian Brinkert, Desirée E.C. Smith, Holger Prokisch, Maja Hempel, René Santer

المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100681- (2020)

مصطلحات موضوعية: Recurrent acute liver failure, Protein biosynthesis, Aminoacylation, AARS1, Metabolic disease, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426920301270Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/42aaac435fe944d188832e1ad210f595Test

المؤلفون: Anja Pfau, Karen I. López-Cayuqueo, Nora Scherer, Matthias Wuttke, Annekatrin Wernstedt, Daniela González Fassrainer, Desiree E.C. Smith, Jiddeke M. van de Kamp, Katharina Ziegeler, Kai-Uwe Eckardt, Friedrich C. Luft, Peter S. Aronson, Anna Köttgen, Thomas J. Jentsch, Felix Knauf

المصدر: The Journal of Clinical Investigation, Vol 133, Iss 3 (2023)

مصطلحات موضوعية: Genetics, Nephrology, Medicine

العلاقة: https://doi.org/10.1172/JCI161849Test; https://doaj.org/toc/1558-8238Test; https://doaj.org/article/c70d5d8f3506419b8e69ebb496d32f97Test

الإتاحة: https://doi.org/10.1172/JCI161849Test
https://doaj.org/article/c70d5d8f3506419b8e69ebb496d32f97Test

المؤلفون: Jean-Marie Ravel, Jean-Louis Guéant, Natacha Dreumont, Marc Polivka, Jean-Baptiste Rivière, Frédéric Tran Mau-Them, Julien Thevenon, David Coelho, Gajja S. Salomons, Desirée E.C. Smith, Pauline Mosca, Emmanuelle Schmitt, Laurence Faivre, Gautam Kok, Marisa I. Mendes, Christel Thauvin-Robinet, Sabine A. Fuchs, Paul Kuentz, Arnaud Wiedemann, François Feillet

المساهمون: Clinical chemistry, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Laboratory Genetic Metabolic Diseases, Amsterdam Neuroscience

المصدر: Human Mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Human mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Ravel, J-M, Dreumont, N, Mosca, P, Smith, D E C, Mendes, M I, Wiedemann, A, Coelho, D, Schmitt, E, Rivière, J-B, Tran Mau-Them, F, Thevenon, J, Kuentz, P, Polivka, M, Fuchs, S A, Kok, G, Thauvin-Robinet, C, Guéant, J-L, Salomons, G S, Faivre, L & Feillet, F 2021, ' A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever ', Human Mutation, vol. 42, no. 12, pp. 1576-1583 . https://doi.org/10.1002/humu.24285Test

مصطلحات موضوعية: Ataxia, brain, Cardiomyopathy, SARS1, Loss of Heterozygosity, Biology, Amino Acyl-tRNA Synthetases, chemistry.chemical_compound, deafness, death, Genetics, medicine, Protein biosynthesis, Missense mutation, Humans, Decompensation, aminoacyl-tRNA synthetase, Child, tRNA, Genetics (clinical), aminoacylation, Aminoacyl tRNA synthetase, medicine.disease, Elongation factor, chemistry, intellectual disability, Transfer RNA, medicine.symptom, Cardiomyopathies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02c2348fc9d2866c9be5ca55eaa73a8aTest
https://doi.org/10.1002/humu.24285Test

المؤلفون: Donata Orioli, Maria Accadia, Anja Raams, Sarah Giachetti, Sigrid M.A. Swagemakers, Wim Vermeulen, Dhanya Yesodharan, Arjan F. Theil, Giuseppina Caligiuri, Elena Botta, Alan R. Lehmann, Desirée E.C. Smith, Tomoo Ogi, Marisa I. Mendes, Sheela Nampoothiri, Silvia Bione, Gajja S. Salomons, Anita Lombardi, Peter J. van der Spek, Jan H.J. Hoeijmakers

المساهمون: 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), Molecular Genetics, Pathology, Laboratory Genetic Metabolic Diseases, ANS - Amsterdam Neuroscience

المصدر: Human Molecular Genetics, 30(18), 1711-1720. Oxford University Press
Botta, E, Theil, A F, Raams, A, Caligiuri, G, Giachetti, S, Bione, S, Accadia, M, Lombardi, A, Smith, D E C, Mendes, M I, Swagemakers, S M A, van der Spek, P J, Salomons, G S, Hoeijmakers, J H J, Yesodharan, D, Nampoothiri, S, Ogi, T, Lehmann, A R, Orioli, D & Vermeulen, W 2021, ' Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy ', Human Molecular Genetics, vol. 30, no. 18, pp. 1711-1720 . https://doi.org/10.1093/hmg/ddab123Test
Human molecular genetics, 30(18), 1711-1720. Oxford University Press
Human Molecular Genetics

مصطلحات موضوعية: AcademicSubjects/SCI01140, Premature aging, Trichothiodystrophy, Methionine-tRNA Ligase, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Transcription (biology), Enzyme Stability, Gene expression, Genetics, medicine, Humans, Trichothiodystrophy Syndromes, Child, Molecular Biology, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Whole Genome Sequencing, Alanine-tRNA Ligase, Translation (biology), General Medicine, medicine.disease, Female, General Article, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b80ac1532350b23f224d8cc845fca680Test
http://www.scopus.com/inward/record.url?scp=85115957950&partnerID=8YFLogxKTest

المؤلفون: Florent Delhommel, Michael Gerstlauer, Maximilian Hastreiter, Maria Forstner, Meino Rohlfs, Tim Jeske, Christina K Rapp, Alba Torrent-Vernetta, Antonio Moreno-Galdó, Birgit Kammer, Nagehan Emiralioglu, Marisa I. Mendes, Yang Li, Michael Sattler, Desirée E.C. Smith, Diclehan Orhan, Matthias Griese, Luise A. Schuch, Frank Brasch, Nural Kiper, Simone Reu-Hofer, Ekim Z. Taskiran

المساهمون: Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms

المصدر: Clinical Genetics, 99(6), 789-801. Wiley-Blackwell
Schuch, L A, Forstner, M, Rapp, C K, Li, Y, Smith, D E C, Mendes, M I, Delhommel, F, Sattler, M, Emiralioğlu, N, Taskiran, E Z, Orhan, D, Kiper, N, Rohlfs, M, Jeske, T, Hastreiter, M, Gerstlauer, M, Torrent-Vernetta, A, Moreno-Galdó, A, Kammer, B, Brasch, F, Reu-Hofer, S & Griese, M 2021, ' FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes : Look beyond the lungs! ', Clinical Genetics, vol. 99, no. 6, pp. 789-801 . https://doi.org/10.1111/cge.13943Test

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Genes, Recessive, Aminoacylation, 030105 genetics & heredity, Biology, 03 medical and health sciences, chemistry.chemical_compound, Charcot-Marie-Tooth Disease, Genetics, Protein biosynthesis, Humans, Missense mutation, ddc:610, Allele, Child, Lung, Gene, Alleles, Genetics (clinical), G alpha subunit, Aminoacyl tRNA synthetase, Infant, Newborn, Infant, Translation (biology), Pedigree, ddc, Phenotype, 030104 developmental biology, chemistry, Child, Preschool, Mutation, Female, Phenylalanine-tRNA Ligase, Lung Diseases, Interstitial

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f5fab26fa1d0a162b6e323085ef2387Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85101856190&origin=inwardTest

المؤلفون: Ayca Dilruba Aslanger, Zhen Li, Valentina Stanley, Dillon Y. Chen, Joseph G. Gleeson, Gajja S. Salomons, David Sievert, Desirée E.C. Smith, Rasim Ozgur Rosti, Shereen G. Ghosh, Henry Houlden, Yulu Wang, Lu Wang, Marisa I. Mendes, Majdi Kara

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-4 (2021)

مصطلحات موضوعية: Microcephaly, Multidisciplinary, business.industry, Science, General Physics and Astronomy, General Chemistry, Biology, medicine.disease, General Biochemistry, Genetics and Molecular Biology, Text mining, Organoid, medicine, business, Neuroscience, Progenitor

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50acb484dd65ed15d5e5cb33095abe51Test
https://doaj.org/article/47fc7e25d01448cf87274ea536ba865fTest

المؤلفون: Dominik Schöndorf, Karl Reiter, Dominic Lenz, Carola Schön, Matias Wagner, Heiko Brennenstuhl, Florian Gesenhues, Gajja S. Salomons, Matthias Griese, Jens H Westhoff, Elias Seidl, Tina Heinzmann, Marisa I. Mendes, Mirjam Stahl, Desirée E.C. Smith, Christian Staufner, Thomas Longerich, Holger Prokisch, Olaf Sommerburg

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D)

المصدر: Pediatric pulmonology, 55(11), 3057-3066. Wiley-Liss Inc.
Pediatr. Pulmonol. 55, 3057-3066 (2020)
Pediatric Pulmonology, 55(11), 3057-3066. Wiley-Liss Inc.
Lenz, D, Stahl, M, Seidl, E, Schöndorf, D, Brennenstuhl, H, Gesenhues, F, Heinzmann, T, Longerich, T, Mendes, M I, Prokisch, H, Salomons, G S, Schön, C, Smith, D E C, Sommerburg, O, Wagner, M, Westhoff, J H, Reiter, K, Staufner, C & Griese, M 2020, ' Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants ', Pediatric Pulmonology, vol. 55, no. 11, pp. 3057-3066 . https://doi.org/10.1002/ppul.25031Test

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Male, medicine.medical_specialty, Anemia, Methionine-tRNA Ligase, Hypoglycemia, Pulmonary Alveolar Proteinosis, Gastroenterology, Bronchoalveolar Lavage, 03 medical and health sciences, Liver disease, 0302 clinical medicine, Methionine, 030225 pediatrics, Internal medicine, medicine, Humans, MARS1, Respiratory system, Child, Exome sequencing, Interstitial Lung And Liver Disease, Mars1, Whole Lung Lavage, interstitial lung and liver disease, Lung, business.industry, whole lung lavage, Liver Diseases, medicine.disease, ddc, medicine.anatomical_structure, 030228 respiratory system, Respiratory failure, Child, Preschool, Pediatrics, Perinatology and Child Health, Dietary Proteins, Pulmonary alveolar proteinosis, business, Lung Diseases, Interstitial, Respiratory Insufficiency

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fc7093bf152485b881b8465b810e87eTest
http://www.scopus.com/inward/record.url?scp=85090311851&partnerID=8YFLogxKTest

المؤلفون: Nicola Dikow, Alyssa Bianzano, Robert Kopajtich, James R. Lupski, Gajja S. Salomons, Jennifer E. Posey, Saskia Biskup, Jill A. Rosenfeld, Bruce H. R. Wolffenbuttel, Dominic Lenz, Saskia B. Wortmann, Denise Horn, Urania Kotzaeridou, Joanne Hughes, Maya Huijberts, Simone Kathemann, Tobias B. Haack, Stefan Kölker, Elke Lainka, Ralf A. Husain, Fleur Vansenne, Sébastien Küry, Andrea Hanson-Kahn, Bertrand Isidor, Matias Wagner, Ellen Crushell, Inga Harting, Jonathan A. Bernstein, Lucia Laugwitz, Dominique Caldari, Desirée E.C. Smith, Marisa I. Mendes, Christian Staufner, Julian Schröter, Claire Reynolds, Heiko Brennenstuhl, Claudia Weiß, Bader Alhaddad, Holger Prokisch, Georg F. Hoffmann

المساهمون: Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, 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: Genet. Med. 22, 1863-1873 (2020)
Genetics in Medicine, 22(11), 1863-1873. Nature Publishing Group
Lenz, D, Smith, D E C, Crushell, E, Husain, R A, Salomons, G S, Alhaddad, B, Bernstein, J A, Bianzano, A, Biskup, S, Brennenstuhl, H, Caldari, D, Dikow, N, Haack, T B, Hanson-Kahn, A, Harting, I, Horn, D, Hughes, J, Huijberts, M, Isidor, B, Kathemann, S, Kopajtich, R, Kotzaeridou, U, Küry, S, Lainka, E, Laugwitz, L, Lupski, J R, Posey, J E, Reynolds, C, Rosenfeld, J A, Schröter, J, Vansenne, F, Wagner, M, Weiß, C, Wolffenbuttel, B H R, Wortmann, S B, Kölker, S, Hoffmann, G F, Prokisch, H, Mendes, M I & Staufner, C 2020, ' Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 ', Genetics in Medicine, vol. 22, no. 11, pp. 1863-1873 . https://doi.org/10.1038/s41436-020-0904-4Test
Genetics in medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins

مصطلحات موضوعية: medicine.medical_specialty, HOMEOSTASIS, Microcytic anemia, Medizin, Disease, Gastroenterology, DISEASE, MECHANISMS, TRANSFER-RNA SYNTHETASES, Seizures, Internal medicine, Genotype, medicine, Humans, Stroke, Genetics (clinical), RECESSIVE MUTATIONS, medicine.diagnostic_test, Muscular hypotonia, business.industry, infantile liver failure syndrome type 1, Magnetic resonance imaging, LARS1, acute liver failure, medicine.disease, Phenotype, aminoacyl-tRNA synthetase deficiency, Mutation, ONSET, Muscle Hypotonia, business, Lars1, Infantile Liver Failure Syndrome Type 1, Acute Liver Failure, Aminoacyl-trna Synthetase Deficiency, Metabolic Stroke, metabolic stroke, Liver Failure, Homeostasis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79a283fec073d0bfac9ee14639992eedTest
https://research.rug.nl/en/publications/03f5a315-5c5a-4d2f-8e51-7646d711e249Test

المؤلفون: Cheryl Cytrynbaum, Francesca Mattioli, Maria J. Guillen Sacoto, Federico Santoni, Rosanna Weksberg, Amina Nasar, Annemarie Fock, Henry Houlden, Shaikh Riazuddin, Tobias B. Haack, Roisin Sullivan, Mona Grimmel, Helen Griffin, Stylianos E. Antonarakis, Nuzhat Rana, Andreea Manole, Marisa I. Mendes, Ayca Dilruba Aslanger, Justyna Iwaszkiewicz, Julia Mohr, Rolph Pfundt, Muhammed Ilyas, Tina Duelund Hjortshøj, Kshitij Mankad, Muhammad Ansar, Katherine M. Christensen, Sonal Desai, Aida Telegrafi, Faisal Zafar, Helena Gásdal Karstensen, Dagan Jenkins, Yue Si, John F. Mantovani, Alice Goldenberg, Sylvain Debard, Muhammad T. Sarwar, Jagdeep S. Walia, Stephanie Efthymiou, Rita Horvath, Vincenzo Salpietro, Reza Maroofian, Jawad Ahmed, Joost Raaphorst, Lindsay B. Henderson, Benyekhlef Kara, Lauren Badalato, Adnan Y. Manzur, Desirée E.C. Smith, Ruben Portier, Marwan Shinawi, Marisa V. Andrews, Gajja S. Salomons, John B. Vincent, Amélie Piton, Felix Distelmaier, Emmanuelle Ranza, Jean-Louis Mandel, Sohail A. Paracha, Marybeth Hummel, Jürg Bähler, Dustin Baldridge, Muhammad A. Usmani, Lu Wang, Maria Rodriguez Lopez, Frédéric Fischer, Annette Seibt, Servi J. C. Stevens, Matthew J. Jennings, Majdi Kara, Amelia Kirby, Hubert Dominique Becker, Kristin W. Barañano, Christopher S. Francklyn, Saima Riazuddin, Rasim Ozgur Rosti, Emer O'Connor, Yalda Jamshidi, Barbara Oehl-Jaschkowitz, Ricardo Harripaul, Anne Marie Jelsig, Anna Sarkozy, Indran Davagnanam, Zubair M. Ahmed, David A. Koolen, Joseph G. Gleeson, Heinz Gabriel, Alkyoni Athanasiou-Fragkouli, Muhammad Ayub, Alejandro Horga, Conny van Ravenwaaij, Bruno Senger, Ingrid M. Wentzensen

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

المؤلفون: Gajja S. Salomons, Urania Kotzaeridou, Travis Moore, Chiara Aiello, Frances Elmslie, Isabelle Thiffault, Francesco Nicita, Saskia Biskup, Paola Goffrini, Karen Stals, Ralf A. Husain, Sonia Figuccia, Amy Pizzino, Rosalba Carrozzo, Cas Simons, Enrico Bertini, Alessandra Torraco, Guy Helman, Ulrich Brandl, Geneviève Bernard, Desirée E.C. Smith, Ryan J. Taft, Rajat Gupta, Tobias B. Haack, Alexa Derksen, Adeline Vanderver, Theresa A. Grebe, Michela Catteruccia, Raphael Schiffmann, Marisa I. Mendes, Marjo S. van der Knaap, Darja Gauck, Andreas Hahn, Lama Darbelli, Omar Sherbini, Ines Brösse, Kinga Hadzsiev

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, ANS - Amsterdam Neuroscience, Functional Genomics, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Pediatric surgery

المصدر: Genetics in medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins
Helman, G, Mendes, M I, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, P, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, D E C, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, T A, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, R J, Schiffmann, R, Brandl, U, Haack, T B, Salomons, G S, Simons, C, Bernard, G, van der Knaap, M S, Vanderver, A & Husain, R A 2021, ' Expanded phenotype of AARS1-related white matter disease ', Genetics in Medicine, vol. 23, no. 12, pp. 2352-2359 . https://doi.org/10.1038/s41436-021-01286-8Test
Genetics in Medicine, 23(12), 2352-2359. Lippincott Williams and Wilkins

مصطلحات موضوعية: medicine.diagnostic_test, business.industry, Epileptic encephalopathy, Disease progression, Disease, medicine.disease, Phenotype, White matter, Leukoencephalopathy, Cross-Sectional Studies, medicine.anatomical_structure, Neuroimaging, SDG 3 - Good Health and Well-being, Leukoencephalopathies, Immunology, Disease Progression, medicine, Humans, business, Genetics (clinical), Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca95affd452f17a6c485d3de16d5b85bTest
https://pure.amc.nl/en/publications/expanded-phenotype-of-aars1related-white-matter-diseaseTest(f8099511-a150-409f-89b2-4af617ac64f8).html