檢索結果 - Shoukier, Moneef

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia 由 Shoukier, Moneef, Neesen, Juergen, Sauter, Simone M, Argyriou, Loukas, Doerwald, Nadine, Pantakani, DV Krishna, Mannan, Ashraf U

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Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia 由 Shoukier, Moneef, Neesen, Juergen, Sauter, Simone M, Argyriou, Loukas, Doerwald, Nadine, Pantakani, DV Krishna, Mannan, Ashraf U

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Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases 由 Behnes, Carl Ludwig, Schlegel, Christina, Shoukier, Moneef, Magiera, Isabella, Henschke, Frank, Schwarz, Alexander, Bremmer, Felix, Loertzer, Hagen

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Germline deletion of CIN85 in humans with X chromosome–linked antibody deficiency 由 Keller, Baerbel, Shoukier, Moneef, Schulz, Kathrin, Bhatt, Arshiya, Heine, Ines, Strohmeier, Valentina, Speckmann, Carsten, Engels, Niklas, Warnatz, Klaus, Wienands, Jürgen

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LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death 由 Keil, Laura, Berisha, Filip, Knappe, Dorit, Kubisch, Christian, Shoukier, Moneef, Kirchhof, Paulus, Fabritz, Larissa, Hellenbroich, Yorck, Woitschach, Rixa, Magnussen, Christina

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Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)) 由 Bulfamante, Gaetano Pietro, Carpenito, Laura, Bragantini, Emma, Graziani, Silvia, Bellizzi, Maria, Bagowski, Christoph Peter, Shoukier, Moneef, Rivieri, Francesca, Soffiati, Massimo, Barbareschi, Mattia

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The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation 由 Holmes, Tim D., Pandey, Ram Vinay, Helm, Eric Y., Schlums, Heinrich, Han, Hongya, Campbell, Tessa M., Drashansky, Theodore T., Chiang, Samuel, Wu, Cheng-Ying, Tao, Christine, Shoukier, Moneef, Tolosa, Eva, Von Hardenberg, Sandra, Sun, Miao, Klemann, Christian, Marsh, Rebecca A., Lau, Colleen M., Lin, Yin, Sun, Joseph C., Månsson, Robert, Cichocki, Frank, Avram, Dorina, Bryceson, Yenan T.

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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells 由 Lessel, Davor, Gehbauer, Christina, Bramswig, Nuria C, Schluth-Bolard, Caroline, Venkataramanappa, Sathish, van Gassen, Koen L I, Hempel, Maja, Haack, Tobias B, Baresic, Anja, Genetti, Casie A, Funari, Mariana F A, Lessel, Ivana, Kuhlmann, Leonie, Simon, Ruth, Liu, Pentao, Denecke, Jonas, Kuechler, Alma, de Kruijff, Ineke, Shoukier, Moneef, Lek, Monkol, Mullen, Thomas, Lüdecke, Hermann-Josef, Lerario, Antonio M, Kobbe, Robin, Krieger, Thorsten, Demeer, Benedicte, Lebrun, Marine, Keren, Boris, Nava, Caroline, Buratti, Julien, Afenjar, Alexandra, Shinawi, Marwan, Guillen Sacoto, Maria J, Gauthier, Julie, Hamdan, Fadi F, Laberge, Anne-Marie, Campeau, Philippe M, Louie, Raymond J, Cathey, Sara S, Prinz, Immo, Jorge, Alexander A L, Terhal, Paulien A, Lenhard, Boris, Wieczorek, Dagmar, Strom, Tim M, Agrawal, Pankaj B, Britsch, Stefan, Tolosa, Eva, Kubisch, Christian

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