Risultati della ricerca - Schaper, Jörg

Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome di Distelmaier, Felix, Huppke, Peter, Pieperhoff, Peter, Amunts, Katrin, Schaper, Jörg, Morava, Eva, Mayatepek, Ertan, Kohlhase, Jürgen, Karenfort, Michael

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The Growing Spectrum of DADA2 Manifestations—Diagnostic and Therapeutic Challenges Revisited di Escherich, Carolin, Bötticher, Benedikt, Harmsen, Stefani, Hömberg, Marc, Schaper, Jörg, Lorenz, Myriam Ricarda, Schwarz, Klaus, Borkhardt, Arndt, Oommen, Prasad Thomas

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Lymphnode tuberculosis in a 4-year-old boy with relapsed ganglioneuroblastoma: a case report di van de Loo, Karoline, Balzer, Stefan, MacKenzie, Colin R., Boemers, Thomas M., Ortmann, Monika, Schaper, Jörg, Borkhardt, Arndt, Laws, Hans-Jürgen, Kuhlen, Michaela

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Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects di Filatova, Alina, Rey, Linda K., Lechler, Marion B., Schaper, Jörg, Hempel, Maja, Posmyk, Renata, Szczaluba, Krzysztof, Santen, Gijs W. E., Wieczorek, Dagmar, Nuber, Ulrike A.

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Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID di Redler, Silke, Strom, Tim M, Wieland, Thomas, Cremer, Kirsten, Engels, Hartmut, Distelmaier, Felix, Schaper, Jörg, Küchler, Alma, Lemke, Johannes R, Jeschke, Stephanie, Schreyer, Nicole, Sticht, Heinrich, Koch, Margarete, Lüdecke, Hermann-Josef, Wieczorek, Dagmar

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SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes di Kim, Jung-Hyun, Park, Eun Young, Chitayat, David, Stachura, David L., Schaper, Jörg, Lindstrom, Kristin, Jewett, Tamison, Wieczorek, Dagmar, Draaisma, Jos M., Sinnema, Margje, Hoeberigs, Christianne, Hempel, Maja, Bachman, Kristine K., Seeley, Andrea H., Stone, Joshua K., Kong, Hyun Kyung, Vukadin, Lana, Richard, Alexander, Shinde, Deepali N., McWalter, Kirsty, Si, Yue Cindy, Douglas, Ganka, Lim, Ssang-Taek Steve, Vissers, Lisenka E.L.M., Lemaire, Mathieu, Ahn, Eun-Young Erin

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