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المؤلفون: Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche, Sarah Chorfi, Saquib A. Lakhani, Weizhen Ji, Laurie Steiner, Julien Marcadier, Philip R. Jansen, Laura A. van de Pol, Johanna M. van Hagen, Alvaro Serrano Russi, Gwenaël Le Guyader, Magnus Nordenskjöld, Ann Nordgren, Britt-Marie Anderlid, Julie Plaisancié, Corinna Stoltenburg, Denise Horn, Anne Drenckhahn, Fadi F. Hamdan, Mathilde Lefebvre, Tania Attie-Bitach, Peggy Forey, Vasily Smirnov, Françoise Ernould, Marie-Line Jacquemont, Sarah Grotto, Alberto Alcantud, Alicia Coret, Rosario Ferrer-Avargues, Siddharth Srivastava, Catherine Vincent-Delorme, Shelby Romoser, Nicole Safina, Dimah Saade, James R. Lupski, Daniel G. Calame, David Geneviève, Nicolas Chatron, Caroline Schluth-Bolard, Kenneth A. Myers, William B. Dobyns, Patrick Calvas, Caroline Salmon, Richard Holt, Frances Elmslie, Marc Allaire, Daniil M. Prigozhin, André Tremblay, Jacques L. Michaud
المساهمون: Pediatrics, Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: The DDD study 2023, ' Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta ', Genetics in Medicine, vol. 25, no. 8, 100856 . https://doi.org/10.1016/j.gim.2023.100856
Genetics in Medicine, 25(8):100856. Lippincott Williams and Wilkinsمصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c20681a78b2c744a3e6e6190d86d13ec
https://doi.org/10.1016/j.gim.2023.100856 -
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المؤلفون: Anina Enderli, Krishna Chatterjee, David A. Koolen, Jana Malikova, Paul Dimitri, Roelineke J. Lunsing, Patricia Crock, Charles Marques Lourenço, Corstiaan A. den Uil, Ferdy S van Geest, Jan Lebl, Christine M. Armour, Michaela Linder-Lucht, Tony Huynh, Annette Hackenberg, Zita Halász, Jan Fairchild, Francesco Porta, Adri van der Walt, Verónica Mericq, Gautem P. Ambegaonkar, Nitash Zwaveling-Soonawala, Daniel Konrad, D Barca, Barbara Castellotti, Cláudia Fernandes Lorea, Anna Dolcetta-Capuzzo, Peter J Simm, Heiko Krude, Evelien F. Gevers, Ayhan Abaci, Claudia Castiglioni, Jet van der Spek, Jolante Wierzba, Carla Moran, Serap Turan, Isabelle Oliver-Petit, Felipe Monti Lora, Amnon Zung, Klara Rozenkova, Nicola Brunetti-Pierri, Fabiano de Oliveira Poswar, W. Edward Visser, Gopinath M. Subramanian, Bianka Heinrich, Irenaeus F.M. de Coo, Milou A.M. Stals, Belinda George, Michael Wurm, Alice Dica, Amy Lawson-Yuen, Rachana Dubey, Christina Reinauer, Athanasia Stoupa, Stefan Groeneweg, Joel Vanderniet, Marjolein H G Dremmen, Marie Claire Y. de Wit, Marjo S. van der Knaap, Edna E. Mancilla, Dana Craiu, Korcan Demir, Greta Lyons, Gerarda Cappuccio, Jean Louis Wémeau, Yogen Singh, Anne McGowan, Alberto Alcantud, Praveen G. Paul, Enrico Bertini, Laura Paone, Marco Spada, Régis Coutant, Marco Cappa, Ingrid M. van Beynum, Jonathan Gallichan, Nicole I. Wolf, Michel Polak, Marieke M. van der Knoop, Christian DeGoede, Davide Tonduti, Federica Zibordi, Tuba Seven Menevse, Katalin Eszter Müller, Anna Simon, Marianna Bugiani, Priyanka Bakhtiani, Anna Kłosowska
المساهمون: Internal Medicine, Pediatrics, Neurology, Radiology & Nuclear Medicine, Cardiology, Intensive Care, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pathology, Pediatric surgery, Paediatric Endocrinology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Functional Genomics, Groeneweg, S., van Geest, F. S., Abaci, A., Alcantud, A., Ambegaonkar, G. P., Armour, C. M., Bakhtiani, P., Barca, D., Bertini, E. S., van Beynum, I. M., Brunetti-Pierri, Nicola, Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., de Coo, I. F. M., Coutant, R., Craiu, D., Crock, P., Degoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M. H. G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E. F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., van der Knaap, M. S., van der Knoop, M. M., Konrad, D., Koolen, D. A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C. F., Lourenco, C. M., Lunsing, R. J., Lyons, G., Malikova, J., Mancilla, E. E., Mcgowan, A., Mericq, V., Lora, F. M., Moran, C., Muller, K. E., Oliver-Petit, I., Paone, L., Paul, P. G., Polak, M., Porta, F., Poswar, F. O., Reinauer, C., Rozenkova, K., Menevse, T. S., Simm, P., Simon, A., Singh, Y., Spada, M., van der Spek, J., Stals, M. A. M., Stoupa, A., Subramanian, G. M., Tonduti, D., Turan, S., den Uil, C. A., Vanderniet, J., van der Walt, A., Wemeau, J. -L., Wierzba, J., de Wit, M. -C. Y., Wolf, N. I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., Visser, W. E.
المصدر: The Lancet Diabetes and Endocrinology, 8(7), 594-605. Elsevier
Groeneweg, S, van Geest, F S, Abacı, A, Alcantud, A, Ambegaonkar, G P, Armour, C M, Bakhtiani, P, Barca, D, Bertini, E S, van Beynum, I M, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, I F M, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, M H G, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, E F, Hackenberg, A, Halász, Z, Heinrich, B, Huynh, T, Kłosowska, A, van der Knaap, M S, van der Knoop, M M, Konrad, D, Koolen, D A, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, C F, Lourenço, C M, Lunsing, R J, Lyons, G, Malikova, J, Mancilla, E E, McGowan, A, Mericq, V, Lora, F M, Moran, C, Müller, K E, Oliver-Petit, I, Paone, L, Paul, P G, Polak, M, Porta, F, Poswar, F O, Reinauer, C, Rozenkova, K, Menevse, T S, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, M A M, Stoupa, A, Subramanian, G M, Tonduti, D, Turan, S, den Uil, C A, Vanderniet, J, van der Walt, A, Wémeau, J L, Wierzba, J, de Wit, M C Y, Wolf, N I, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N & Visser, W E 2020, ' Disease characteristics of MCT8 deficiency : an international, retrospective, multicentre cohort study ', The Lancet Diabetes and Endocrinology, vol. 8, no. 7, pp. 594-605 . https://doi.org/10.1016/S2213-8587(20)30153-4
LANCET DIABETES & ENDOCRINOLOGY
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Lancet Diabetes & Endocrinology, 8, 594-605
Lancet Diabetes & Endocrinology, 8, 7, pp. 594-605
Lancet Diabetes & Endocrinology, 8(7), 594-605. ELSEVIER SCIENCE INC
The Lancet Diabetes and Endocrinology, 8(7), 594-605. Elsevier BV
Lancet. Diabetes and endocrinology, 8(7), 594-605. Elsevier BVمصطلحات موضوعية: Male, Pediatrics, Endocrinology, Diabetes and Metabolism, Bayley Scales of Infant Development, Monocarboxylic Acid Transporter, 0302 clinical medicine, Endocrinology, Retrospective Studie, Neurodevelopmental Disorder, Medicine, 030212 general & internal medicine, Child, Thyroid hormone transport, Symporters, Mental Disorders, Hazard ratio, SDG 10 - Reduced Inequalities, Middle Aged, Prognosis, Survival Rate, International Agencie, Child, Preschool, Cohort, Mental Disorder, Female, Disease characteristics, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Human, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Cohort study, Adult, Monocarboxylic Acid Transporters, medicine.medical_specialty, Adolescent, Prognosi, HEART-RATE, 030209 endocrinology & metabolism, Sudden death, Follow-Up Studie, MONOCARBOXYLATE TRANSPORTER-8, Young Adult, 03 medical and health sciences, HORMONE, Muscular Diseases, Internal Medicine, Humans, PSYCHOMOTOR RETARDATION, Survival rate, Aged, Retrospective Studies, Muscular Disease, business.industry, MUTATIONS, Symporter, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Infant, International Agencies, Retrospective cohort study, Biomarker, Neurodevelopmental Disorders, Mutation, business, Biomarkers, Follow-Up Studies
وصف الملف: application/pdf
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المؤلفون: Hilario Gómez-Martín, Rocío Calvo, Cesar Ruiz, Cristina Auger, Maria D M Mendibe, Berta Pujol-Soler, Josep Dalmau, Alberto Alcantud, Albert Saiz, Gabriela Orellana, Xavier Montalban, Teresa Bermejo, Ana Camacho Salas, Lourdes Aquino Fariña, Desire Gonzalez-Barrios, Lorena Monge-Galindo, Raquel Ruiz-García, Ana Felipe-Rucián, Miguel Tomás-Vila, Maria Vázquez-López, Gema Arriola-Pereda, Diana Alvarez Demanuel, Natalia Juliá-Palacios, Elena Miravet, Ainhoa García-Ribes, Marta Muñoz-Batista, Gemma Aznar-Laín, Elena Maqueda-Castellote, Maria Jesús Martínez-González, Ignacio Málaga, Mar Tintoré, Eva Caballero, Eulàlia Turon-Viñas, Maite Benavides-Medina, Eduardo López-Laso, Verónica Delgadillo-Chilavert, Sara Jimena-Garcia, María Jiménez-Legido, Adeline Vanderver, Maria Concepción Miranda-Herrero, Cristina Villar-Vera, Maria Sepúlveda, Amagoia Elosegi-Castellanos, Verónica Cantarín-Extremera, Montserrat Garcia-Puig, Helena Ariño, Vanesa Esteban Canto, Maria D Mora-Ramírez, Maria I Rodriguez-Lucenilla, Sergio Aguilera-Albesa, Luis Querol, Tania Nunes-Cabrera, Joaquín A. Fernández-Ramos, Beatriz Muñoz-Cabello, Verónica González-Álvarez, Francesc Graus, Alfredo Ramírez, Simone Mattozi, Marta Martínez González, Eugenia Martinez-Hernandez, Laura Toledo Bravo de Laguna, Lucía Martín-Viota, Mireia Alvarez Molinero, Georgina Arrambide, Víctor Soto-Insuga, Gemma Olivé-Cirera, Raquel Blanco-Lago, Itxaso Martí-Carrera, David Conejo-Moreno, Luisa Arrabal, Thaís Armangue, Luis González-Gutiérrez-Solana, Juan Navarro-Morón
المصدر: LANCET NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: Male, 0301 basic medicine, REVISIONS, CHILDREN, Pediatrics, DISEASE, Cohort Studies, 0302 clinical medicine, immune system diseases, Medicine, CRITERIA, Prospective Studies, Child, Prospective cohort study, DISSEMINATED ENCEPHALOMYELITIS, First episode, NEUROMYELITIS-OPTICA, biology, Neuromyelitis Optica, Immunoglobulins, Intravenous, hemic and immune systems, Syndrome, MULTIPLE-SCLEROSIS, Magnetic Resonance Imaging, Child, Preschool, Acute disseminated encephalomyelitis, Encephalitis, Female, Rituximab, medicine.drug, medicine.medical_specialty, DIAGNOSIS, Myelin oligodendrocyte glycoprotein, 03 medical and health sciences, Internal medicine, Humans, MOG, Optic neuritis, Autoantibodies, Autoimmune encephalitis, RECEPTOR, business.industry, medicine.disease, nervous system diseases, 030104 developmental biology, nervous system, Spain, Immunoglobulin G, biology.protein, Myelin-Oligodendrocyte Glycoprotein, Neurology (clinical), business, 030217 neurology & neurosurgery, Demyelinating Diseases
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