検索結果 - Rudnik-Schöneborn, Sabine

Genetic tests in sports medicine - many studies, little impact 著者: Rudnik-Schöneborn, Sabine

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Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease? 著者: Shababi, Monir, Lorson, Christian L, Rudnik-Schöneborn, Sabine S

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The genetic counseling profession in Austria: Stakeholders’ perspectives 著者: Schwaninger, Gunda, Benjamin, Caroline, Rudnik‐Schöneborn, Sabine, Zschocke, Johannes

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Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction 著者: Soupene, Eric, Schatz, Ulrich A., Rudnik-Schöneborn, Sabine, Kuypers, Frans A.

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Correction: Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction 著者: Soupene, Eric, Schatz, Ulrich A., Rudnik-Schöneborn, Sabine, Kuypers, Frans A.

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Low‐level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways 著者: Manzanilla‐Romero, Héctor Hugo, Weis, Denisa, Schnaiter, Simon, Rudnik‐Schöneborn, Sabine

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A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye 著者: Pölsler, Laura, Schatz, Ulrich A., Simma, Burkhard, Zschocke, Johannes, Rudnik‐Schöneborn, Sabine

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Clinical utility gene card for: proximal spinal muscular atrophy 著者: Rudnik–Schöneborn, Sabine, Eggermann, Thomas, Kress, Wolfram, Lemmink, Henny H, Cobben, Jan-Maarten, Zerres, Klaus

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Recurrent Spontaneous Miscarriage: a Comparison of International Guidelines 著者: Vomstein, Kilian, Aulitzky, Anna, Strobel, Laura, Bohlmann, Michael, Feil, Katharina, Rudnik-Schöneborn, Sabine, Zschocke, Johannes, Toth, Bettina

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Myofiber Degeneration in Autosomal Dominant Emery–Dreifuss Muscular Dystrophy (AD‐EDMD) (LGMD1B) 著者: Mittelbronn, Michel, Hanisch, Frank, Gleichmann, Marc, Stötter, Mechthild, Korinthenberg, Rudolf, Wehnert, Manfred, Bonne, Gisèle, Rudnik‐Schöneborn, Sabine, Bornemann, Antje

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Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents—Consensus-Based Practice Guidelines 著者: Korinthenberg, Rudolf, Trollmann, Regina, Plecko, Barbara, Stettner, Georg M., Blankenburg, Markus, Weis, Joachim, Schoser, Benedikt, Müller-Felber, Wolfgang, Lochbuehler, Nina, Hahn, Gabriele, Rudnik-Schöneborn, Sabine

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Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21 著者: Grohmann, Katja, Wienker, Thomas F., Saar, Kathrin, Rudnik-Schöneborn, Sabine, Stoltenburg-Didinger, Gisela, Rossi, Rainer, Novelli, Giuseppe, Nürnberg, Gudrun, Pfeufer, Arne, Wirth, Brunhilde, Reis, André, Zerres, Klaus, Hübner, Christoph

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Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies 著者: Reuter, Miriam S., Zech, Michael, Hempel, Maja, Altmüller, Janine, Heung, Tracy, Pölsler, Laura, Santer, René, Thiele, Holger, Trost, Brett, Kubisch, Christian, Scherer, Stephen W., Rudnik-Schöneborn, Sabine, Bassett, Anne S., Lessel, Davor

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Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050) 著者: Toth, Bettina, Würfel, Wolfgang, Bohlmann, Michael, Zschocke, Johannes, Rudnik-Schöneborn, Sabine, Nawroth, Frank, Schleußner, Ekkehard, Rogenhofer, Nina, Wischmann, Tewes, von Wolff, Michael, Hancke, Katharina, von Otte, Sören, Kuon, Ruben, Feil, Katharina, Tempfer, Clemens

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PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta... 著者: Onuchic, Luiz F., Furu, Laszlo, Nagasawa, Yasuyuki, Hou, Xiaoying, Eggermann, Thomas, Ren, Zhiyong, Bergmann, Carsten, Senderek, Jan, Esquivel, Ernie, Zeltner, Raoul, Rudnik-Schöneborn, Sabine, Mrug, Michael, Sweeney, William, Avner, Ellis D., Zerres, Klaus, Guay-Woodford, Lisa M., Somlo, Stefan, Germino, Gregory G.

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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum 著者: Synofzik, Matthis, Soehn, Anne S, Gburek-Augustat, Janina, Schicks, Julia, Karle, Kathrin N, Schüle, Rebecca, Haack, Tobias B, Schöning, Martin, Biskup, Saskia, Rudnik-Schöneborn, Sabine, Senderek, Jan, Hoffmann, Karl-Titus, MacLeod, Patrick, Schwarz, Johannes, Bender, Benjamin, Krüger, Stefan, Kreuz, Friedmar, Bauer, Peter, Schöls, Ludger

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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia 著者: Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B., McLean, Catriona A., Kornberg, Andrew J., Joseph, Jörg, Lockhart, Paul J., Zerres, Klaus, Ryan, Monique M., Nelson, Stanley F., Koehler, Carla M., Jen, Joanna C.

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Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures 著者: Knierim, Ellen, Hirata, Hiromi, Wolf, Nicole I., Morales-Gonzalez, Susanne, Schottmann, Gudrun, Tanaka, Yu, Rudnik-Schöneborn, Sabine, Orgeur, Mickael, Zerres, Klaus, Vogt, Stefanie, van Riesen, Anne, Gill, Esther, Seifert, Franziska, Zwirner, Angelika, Kirschner, Janbernd, Goebel, Hans Hilmar, Hübner, Christoph, Stricker, Sigmar, Meierhofer, David, Stenzel, Werner, Schuelke, Markus

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Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3 著者: Senderek, Jan, Garvey, Sean M., Krieger, Michael, Guergueltcheva, Velina, Urtizberea, Andoni, Roos, Andreas, Elbracht, Miriam, Stendel, Claudia, Tournev, Ivailo, Mihailova, Violeta, Feit, Howard, Tramonte, Jeff, Hedera, Peter, Crooks, Kristy, Bergmann, Carsten, Rudnik-Schöneborn, Sabine, Zerres, Klaus, Lochmüller, Hanns, Seboun, Eric, Weis, Joachim, Beckmann, Jacques S., Hauser, Michael A., Jackson, Charles E.

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Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4 著者: Stendel, Claudia , Roos, Andreas , Deconinck, Tine , Pereira, Jorge , Castagner, François , Niemann, Axel , Kirschner, Janbernd , Korinthenberg, Rudolf , Ketelsen, Uwe-Peter , Battaloglu, Esra , Parman, Yesim , Nicholson, Garth , Ouvrier, Robert , Seeger, Jürgen , Jonghe, Peter De , Weis, Joachim , Krüttgen, Alexander , Rudnik-Schöneborn, Sabine , Bergmann, Carsten , Suter, Ueli , Zerres, Klaus , Timmerman, Vincent , Relvas, João B. , Senderek, Jan 

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