نتائج البحث - "Bley, Annette"

المصدر: Schoenmakers , D H , Beerepoot , S , van den Berg , S , Adang , L , Bley , A , Boelens , J-J , Fumagalli , F , Goettsch , W G , Grønborg , S , Groeschel , S , van Hasselt , P M , Hollak , C E M , Lindemans , C , Mochel , F , Mol , P G M , Sevin , C , Zerem , A , Schöls , L & Wolf , N I 2022 , ' Modified Delphi procedure-based expert consensus on endpoints for an international ....

العلاقة: https://research.vumc.nl/en/publications/d77d6490-e523-48bb-b674-b2525614b224Test

الإتاحة: https://doi.org/10.1186/s13023-022-02189-wTest
https://research.vumc.nl/en/publications/d77d6490-e523-48bb-b674-b2525614b224Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85124618706&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/35164810Test

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6

دورية أكاديمية

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

المؤلفون: Schoenmakers, Daphne H., Beerepoot, Shanice, van den Berg, Sibren, Adang, Laura, Bley, Annette, Boelens, Jaap Jan, Fumagalli, Francesca, Goettsch, Wim G., Grønborg, Sabine, Groeschel, Samuel, van Hasselt, Peter M., Hollak, Carla E.M., Lindemans, Caroline, Mochel, Fanny, Mol, Peter G.M., Sevin, Caroline, Zerem, Ayelet, Schöls, Ludger, Wolf, Nicole I.

المساهمون: CTI Nierkens, Infection & Immunity, Regenerative Medicine and Stem Cells, Metabole ziekten patientenzorg, Child Health

مصطلحات موضوعية: Consensus, Humans, Leukodystrophy, Metachromatic/genetics, Quality of Life, Registries, Retrospective Studies, Journal Article, Research Support, Non-U.S. Gov't

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/446000Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/446000Test

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النص الكامل

7

دورية أكاديمية

PIGN encephalopathy : characterizing the epileptology

المؤلفون: Bayat, Allan, Valles‐Ibáñez, Guillem, Pendziwiat, Manuela, Knaus, Alexej, Alt, Kerstin, Biamino, Elisa, Bley, Annette, Calvert, Sophie, Carney, Patrick, Caro‐Llopis, Alfonso, Ceulemans, Berten, Cousin, Janice, Davis, Suzanne, Portes, Vincent, Edery, Patrick, England, Eleina, Ferreira, Carlos, Freeman, Jeremy, Gener, Blanca, Gorce, Magali, Heron, Delphine, Hildebrand, Michael S., Jezela‐Stanek, Aleksandra, Jouk, Pierre‐Simon, Keren, Boris, Kloth, Katja, Kuhn, Marius, Lemke, Johannes R., Li, Hong, Martinez, Francisco, Maxton, Caroline, Mefford, Heather C., Merla, Giuseppe, Mierzewska, Hanna, Muir, Alison, Monfort, Sandra, Nicolai, Joost, Norman, Jennifer, O'Grady, Gina, Oleksy, Barbara, Orellana, Carmen, Orec, Laura Elena, Peinhardt, Charlotte, Pronicka, Ewa, Rosello, Monica, Santos‐Simarro, Fernando, Schwaibold, Eva Maria Christina, Stegmann, Alexander P.A., Stumpel, Constance T., Szczepanik, Elzbieta, Terczyńska, Iwona, Thevenon, Julien, Tzschach, Andreas, Van Bogaert, Patrick, Vittorini, Roberta, Walsh, Sonja, Weckhuysen, Sarah, Weissman, Barbara, Wolfe, Lynne, Reymond, Alexandre, De Nittis, Pasquelena, Poduri, Annapurna, Olson, Heather, Striano, Pasquale, Lesca, Gaetan, Scheffer, Ingrid E., Møller, Rikke S., Sadleir, Lynette G.

المصدر: 0013-9580 ; Epilepsia

مصطلحات موضوعية: Human medicine

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000757417200001

الإتاحة: https://doi.org/10.1111/EPI.17173Test
https://hdl.handle.net/10067/1861900151162165141Test
https://repository.uantwerpen.be/docstore/d:irua:10884Test

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8

دورية أكاديمية

PIGN encephalopathy:Characterizing the epileptology

المؤلفون: Bayat, Allan, de Valles-Ibáñez, Guillem, Pendziwiat, Manuela, Knaus, Alexej, Alt, Kerstin, Biamino, Elisa, Bley, Annette, Calvert, Sophie, Carney, Patrick, Caro-Llopis, Alfonso, Ceulemans, Berten, Cousin, Janice, Davis, Suzanne, des Portes, Vincent, Edery, Patrick, England, Eleina, Ferreira, Carlos, Freeman, Jeremy, Gener, Blanca, Gorce, Magali, Heron, Delphine, Hildebrand, Michael S., Jezela-Stanek, Aleksandra, Jouk, Pierre Simon, Keren, Boris, Kloth, Katja, Kluger, Gerhard, Kuhn, Marius, Lemke, Johannes R., Li, Hong, Martinez, Francisco, Maxton, Caroline, Mefford, Heather C., Merla, Giuseppe, Mierzewska, Hanna, Muir, Alison, Monfort, Sandra, Nicolai, Joost, Norman, Jennifer, O'Grady, Gina, Oleksy, Barbara, Orellana, Carmen, Orec, Laura Elena, Peinhardt, Charlotte, Pronicka, Ewa, Rosello, Monica, Santos-Simarro, Fernando, Schwaibold, Eva Maria Christina, Stegmann, Alexander P.A., Stumpel, Constance T, Szczepanik, Elzbieta, Terczyńska, Iwona, Thevenon, Julien, Tzschach, Andreas, Van Bogaert, Patrick, Vittorini, Roberta, Walsh, Sonja, Weckhuysen, Sarah, Weissman, Barbara, Wolfe, Lynne, Reymond, Alexandre, De Nittis, Pasquelena, Poduri, Annapurna, Olson, Heather, Striano, Pasquale, Lesca, Gaetan, Scheffer, Ingrid E., Møller, Rikke S., Sadleir, Lynette G.

المصدر: Bayat , A , de Valles-Ibáñez , G , Pendziwiat , M , Knaus , A , Alt , K , Biamino , E , Bley , A , Calvert , S , Carney , P , Caro-Llopis , A , Ceulemans , B , Cousin , J , Davis , S , des Portes , V , Edery , P , England , E , Ferreira , C , Freeman , J , Gener , B , Gorce , M , Heron , D , Hildebrand , M S , Jezela-Stanek , A , Jouk , P S ....

مصطلحات موضوعية: congenital disorder of glycosylation, developmental and epileptic encephalopathy, epilepsy, GPI-anchoring disorder, intellectual disability, Seizures/genetics, Humans, Epilepsy/diagnostic imaging, Electroencephalography, Intellectual Disability/diagnostic imaging, Drug Resistant Epilepsy, Phenotype, Female