نتائج البحث - "Gopinath M. Subramanian"

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 BV

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a1c046b02fa1870d7b9cb9b1d6aed73
https://pure.eur.nl/en/publications/15af8d51-7430-4e63-bbce-74824120e8fa

View record in OpenAIRE

5

Expansion of phenotype of DDX3X syndrome: six new cases

المؤلفون: Victoria E. Jackson, Julie McGaughran, David J. Amor, Olivia van Reyk, Michael S. Hildebrand, Gopinath M. Subramanian, Himanshu Goel, Bryony Beal, Ian Hayes, Christina Miteff, Angela T Morgan

المصدر: Clinical Dysmorphology. 28:169-174

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70104fc8b481657d505c14b41b5bbe93
https://doi.org/10.1097/mcd.0000000000000289

View record in OpenAIRE

6

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

المؤلفون: Calvin Soh, Sophie Calvert, Ram L. Kumar, Isabelle Desguerre, Kevin Talbot, Evangeline Wassmer, Axel Panzer, Andrea Berger, Anna de Burca, Anu Jacob, Andrea Whitney, Andrew P. Badrock, Frances Gibbon, Shelley MacDonald, Rhys H. Thomas, Reza Maroofian, Heather Burnett, Elizabeth Jones, Thomas Blauwblomme, Francois V. Bolduc, Jamal Ghoumid, Mickaël Ferrand, Yanick J. Crow, Emma M. Jenkinson, Camilo Toro, Diana Chiang, Roseline Caumes, Gillian I. Rice, Gemma Fisher, Gopinath M. Subramanian, Edoardo Monfrini, Renaud Touraine, Hilde T. Hilmarsen, Sarju G. Mehta, Imelda Hughes, Sumit Parikh, Edward Blair, Mary O'Driscoll, Sarah Dyack, Himanshu Goel, Kristin W. Barañano, Prab Prabhakar, Luis Seabra, Roberta Battini, John H. Livingston, Russell P. Saneto, Richard J. Leventer, Katrin Õunap, Heather Marshall, Andy Cheuk Him Ng, Duccio Maria Cordelli, Natasha Demic, Daniela Neumann, Natalie Boddaert, Michael J. Noetzel, S. Richard Dunham, Ehsan Ghayoor Karimiani, Johannes A. Buckard, Frances Elmslie, Raymond T. O'Keefe, Chloe A Stutterd, Richard Sandford, Imke Metz, Francis Ramond, Liesbeth De Waele, Alessio Di Fonzo, Emma Wakeling, David B. Clifford

المساهمون: Crow Y.J., Marshall H., Rice G.I., Seabra L., Jenkinson E.M., Baranano K., Battini R., Berger A., Blair E., Blauwblomme T., Bolduc F., Boddaert N., Buckard J., Burnett H., Calvert S., Caumes R., Ng A.C.-H., Chiang D., Clifford D.B., Cordelli D.M., de Burca A., Demic N., Desguerre I., De Waele L., Di Fonzo A., Dunham S.R., Dyack S., Elmslie F., Ferrand M., Fisher G., Karimiani E.G., Ghoumid J., Gibbon F., Goel H., Hilmarsen H.T., Hughes I., Jacob A., Jones E.A., Kumar R., Leventer R.J., MacDonald S., Maroofian R., Mehta S.G., Metz I., Monfrini E., Neumann D., Noetzel M., O'Driscoll M., Ounap K., Panzer A., Parikh S., Prabhakar P., Ramond F., Sandford R., Saneto R., Soh C., Stutterd C.A., Subramanian G.M., Talbot K., Thomas R.H., Toro C., Touraine R., Wakeling E., Wassmer E., Whitney A., Livingston J.H., O'Keefe R.T., Badrock A.P.

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, 030105 genetics & heredity, Gene mutation, ribosomopathy, Compound heterozygosity, Genetic analysis, Loss of heterozygosity, Leukoencephalopathy, Consanguinity, Leukoencephalopathies, Pathology, Molecular, Child, Zebrafish, Genetics (clinical), Genetics, Molecular pathology, C/D box snoRNA U8, coats plus, Labrune syndrome, leukoencephalopathy with calcifications and cysts, SNORD118, Calcinosis, Middle Aged, 3. Good health, Child, Preschool, Female, Adult, Heterozygote, Adolescent, coats plu, Biology, Young Adult, 03 medical and health sciences, medicine, Animals, Humans, RNA, Small Nucleolar, Genetic Association Studies, Aged, leukoencephalopathy with calcifications and cyst, Infant, Newborn, Infant, medicine.disease, Disease Models, Animal, 030104 developmental biology