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المؤلفون: Martin R. Larsen, Shiva Ganesan, Tobias Brünger, Nicolas Chassaing, Caroline Nava, Renzo Guerrini, Kim L. McBride, Anneke Kievit, Elena Parrini, Dennis Lal, Lisbeth Tranebjærg, Christel Depienne, Aleksandra Jezela-Stanek, Matthew Pastore, Carolina Fischinger Moura de Souza, Berten Ceulemans, Hannah Moore, Peter Krawitz, Gaetan Lesca, Ingo Helbig, Valerie Layet, Friedrich Bosch, Alexandra Afenjar, Rikke S. Møller, Carlos Ferreira, Sophie Naudion, Milda Endziniene, Alexej Knaus, Lilian Bomme Ousager, Marie-Christine Nougues, Caroline Karsenty, Johanne Kragh Hansen, Allan Bayat, Elena Gardella, Anne-Marie Guerrot, Marije Meuwissen, Tahsin Stefan Barakat, Mads Thomassen, Patrick Calvas, F Kooy, Jurgen H Schelhaas, Svetlana Gataullina, Lynne A. Wolfe, Bert Callewaert, Ashley Thomas, Steven A. Skinner, Lars Hansen, Manuela Pendziwiat, Cécile Freihuber, Cyril Mignot, Krzysztoł Szczałuba, Marjon van Slegtenhorst, Martino Montomoli, Christian Korff
المساهمون: Clinical Genetics
المصدر: Epilepsia
Epilepsia, 61(6), 1142-1155. Wiley-Blackwell Publishing Ltd
Bayat, A, Knaus, A, Pendziwiat, M, Afenjar, A, Stefan Barakat, T, Bosch, F, Callewaert, B, Calvas, P, Ceulemans, B, Chassaing, N, Depienne, C, Endziniene, M, Ferreira, C R, Moura de Souza, C F, Freihuber, C, Ganesan, S, Gataullina, S, Guerrini, R, Guerrot, A-M, Hansen, L, Jezela-Stanek, A, Karsenty, C, Kievit, A, Kooy, F R, Korff, C M, Kragh Hansen, J, Larsen, M, Layet, V, Lesca, G, McBride, K L, Meuwissen, M, Mignot, C, Montomoli, M, Moore, H, Naudion, S, Nava, C, Nougues, M-C, Parrini, E, Pastore, M, Schelhaas, J H, Skinner, S, Szczałuba, K, Thomas, A, Thomassen, M, Tranebjaerg, L, van Slegtenhorst, M, Wolfe, L A, Lal, D, Gardella, E, Bomme Ousager, L, Brünger, T, Helbig, I, Krawitz, P & Møller, R S 2020, ' Lessons learned from 40 novel PIGA patients and a review of the literature ', Epilepsia, vol. 61, no. 6, pp. 1142-1155 . https://doi.org/10.1111/epi.16545مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Fryns syndrome phenotype, bioinformatical comparison, Medizin, Limb Deformities, Congenital, Cardiomyopathy, genotype-phenotype correlation, Biology, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, medicine, Humans, Clinical significance, mild developmental delay, Amino Acid Sequence, Global developmental delay, Child, Hernia, Diaphragmatic, Genetics, Infant, Newborn, Facies, Genetic Variation, Membrane Proteins, Electroencephalography, PIGA, medicine.disease, Magnetic Resonance Imaging, Phenotype, Hypotonia, 030104 developmental biology, Neurology, Cohort, Neurology (clinical), Human medicine, medicine.symptom, Congenital disorder of glycosylation, 030217 neurology & neurosurgery
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