نتائج البحث - Schmitt‐Mechelke, Thomas

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families حسب Spenger, Johannes, Maier, Esther M., Wechselberger, Katharina, Bauder, Florian, Kocher, Melanie, Sperl, Wolfgang, Preisel, Martin, Schiergens, Katharina A., Konstantopoulou, Vassiliki, Röschinger, Wulf, Häberle, Johannes, Schmitt-Mechelke, Thomas, Wortmann, Saskia B., Fingerhut, Ralph

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Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32 حسب Spenger, Johannes, Maier, Esther M., Wechselberger, Katharina, Bauder, Florian, Kocher, Melanie, Sperl, Wolfgang, Preisel, Martin, Schiergens, Katharina A., Konstantopoulou, Vassiliki, Röschinger, Wulf, Häberle, Johannes, Schmitt-Mechelke, Thomas, Wortmann, Saskia B., Fingerhut, Ralph

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Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects حسب Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G. M., van der Knaap, Marjo S., de Coo, Irenaeus F. M., Smeets, Hubert J. M.

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LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations حسب Stellingwerff, Menno D., Figuccia, Sonia, Bellacchio, Emanuele, Alvarez, Karin, Castiglioni, Claudia, Topaloglu, Pinar, Stutterd, Chloe A., Erasmus, Corrie E., Sanchez‐Valle, Amarilis, Lebon, Sebastien, Hughes, Sarah, Schmitt-Mechelke, Thomas, Vasco, Gessica, Chow, Gabriel, Rahikkala, Elisa, Dallabona, Cristina, Okuma, Cecilia, Aiello, Chiara, Goffrini, Paola, Abbink, Truus E.M., Bertini, Enrico S., Van der Knaap, Marjo S.

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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study حسب Papuc, Sorina M., Abela, Lucia, Steindl, Katharina, Begemann, Anaïs, Simmons, Thomas L., Schmitt, Bernhard, Zweier, Markus, Oneda, Beatrice, Socher, Eileen, Crowther, Lisa M., Wohlrab, Gabriele, Gogoll, Laura, Poms, Martin, Seiler, Michelle, Papik, Michael, Baldinger, Rosa, Baumer, Alessandra, Asadollahi, Reza, Kroell-Seger, Judith, Schmid, Regula, Iff, Tobias, Schmitt-Mechelke, Thomas, Otten, Karoline, Hackenberg, Annette, Addor, Marie-Claude, Klein, Andrea, Azzarello-Burri, Silvia, Sticht, Heinrich, Joset, Pascal, Plecko, Barbara, Rauch, Anita

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Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2 حسب Neilson, Derek E., Adams, Mark D., Orr, Caitlin M.D., Schelling, Deborah K., Eiben, Robert M., Kerr, Douglas S., Anderson, Jane, Bassuk, Alexander G., Bye, Ann M., Childs, Anne-Marie, Clarke, Antonia, Crow, Yanick J., Di Rocco, Maja, Dohna-Schwake, Christian, Dueckers, Gregor, Fasano, Alfonso E., Gika, Artemis D., Gionnis, Dimitris, Gorman, Mark P., Grattan-Smith, Padraic J., Hackenberg, Annette, Kuster, Alice, Lentschig, Markus G., Lopez-Laso, Eduardo, Marco, Elysa J., Mastroyianni, Sotiria, Perrier, Julie, Schmitt-Mechelke, Thomas, Servidei, Serenella, Skardoutsou, Angeliki, Uldall, Peter, van der Knaap, Marjo S., Goglin, Karrie C., Tefft, David L., Aubin, Cristin, de Jager, Philip, Hafler, David, Warman, Matthew L.

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Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatas... حسب Scala, Marcello, Wortmann, Saskia B., Kaya, Namik, Stellingwerff, Menno D., Pistorio, Angela, Glamuzina, Emma, van Karnebeek, Clara D., Skrypnyk, Cristina, Iwanicka‐Pronicka, Katarzyna, Piekutowska‐Abramczuk, Dorota, Ciara, Elżbieta, Tort, Frederic, Sheidley, Beth, Poduri, Annapurna, Jayakar, Parul, Jayakar, Anuj, Upadia, Jariya, Walano, Nicolette, Haack, Tobias B., Prokisch, Holger, Aldhalaan, Hesham, Karimiani, Ehsan G., Yildiz, Yilmaz, Ceylan, Ahmet C., Santiago‐Sim, Teresa, Dameron, Amy, Yang, Hui, Toosi, Mehran B., Ashrafzadeh, Farah, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh S., Maqbool, Shazia, Farid, Aisha, Al‐Muhaizea, Mohamed A., Alshwameen, Meznah O., Aldowsari, Lama, Alsagob, Maysoon, Alyousef, Ashwaq, AlMass, Rawan, AlHargan, Aljouhra, Alwadei, Ali H., AlRasheed, Maha M., Colak, Dilek, Alqudairy, Hanan, Khan, Sameena, Lines, Matthew A., García Cazorla, M. Ángeles, Ribes, Antonia, Morava, Eva, Bibi, Farah, Haider, Shahzad, Ferla, Matteo P., Taylor, Jenny C., Alsaif, Hessa S., Firdous, Abdulwahab, Hashem, Mais, Shashkin, Chingiz, Koneev, Kairgali, Kaiyrzhanov, Rauan, Efthymiou, Stephanie, Genomics, Queen Square, Schmitt‐Mechelke, Thomas, Ziegler, Andreas, Issa, Mahmoud Y., Elbendary, Hasnaa M., Striano, Pasquale, Alkuraya, Fowzan S., Zaki, Maha S., Gleeson, Joseph G., Barakat, Tahsin Stefan, Bierau, Jorgen, van der Knaap, Marjo S., Maroofian, Reza, Houlden, Henry

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