未登录The effect of the COMT val158met polymorphism on neural correlates of semantic verbal fluency (vol 259, pg 459, 2009)
Krug, Axel; Markov, Valentin; Sheldrick, Abigail; Krach, Soeren; Jansen, Andreas; Zerres, Klaus; Eggermann, Thomas; Stoecker, Tony; Jon Shah, N.; Kircher, Tilo
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收藏Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
Burgmaier, Kathrin; Brinker, Leonie; Erger, Florian; Beck, Bodo B.; Benz, Marcus R.; Bergmann, Carsten; Boyer, Olivia; Collard, Laure; Dafinger, Claudia; Fila, Marc; Kowalewska, Claudia; Lange-Sperandio, Baerbel; Massella, Laura; Mastrangelo, Antonio; Mekahli, Djalila; Miklaszewska, Monika; Ortiz-Bruechle, Nadina; Patzer, Ludwig; Prikhodina, Larisa; Ranchin, Bruno; Ranguelov, Nadejda; Schild, Raphael; Seeman, Tomas; Sever, Lale; Sikora, Przemyslaw; Szczepanska, Maria; Teixeira, Ana; Thumfart, Julia; Uetz, Barbara; Weber, Lutz Thorsten; Wuehl, Elke; Zerres, Klaus; Doetsch, Joerg; Schaefer, Franz; Liebau, Max Christoph
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收藏Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
Burgmaier, Kathrin; Kunzmann, Kevin; Ariceta, Gema; Bergmann, Carsten; Buescher, Anja Katrin; Burgmaier, Mathias; Dursun, Ismail; Duzova, Ali; Eid, Loai; Erger, Florian; Feldkoetter, Markus; Galiano, Matthias; Gessner, Michaela; Goebel, Heike; Gokce, Ibrahim; Haffner, Dieter; Hooman, Nakysa; Hoppe, Bernd; Jankauskiene, Augustina; Klaus, Guenter; Koenig, Jens; Litwin, Mieczyslaw; Massella, Laura; Mekahli, Djalila; Melek, Engin; Mir, Sevgi; Pape, Lars; Prikhodina, Larisa; Ranchin, Bruno; Schild, Raphael; Seeman, Tomas; Sever, Late; Shroff, Rukshana; Soliman, Neveen A.; Stabouli, Stella; Stanczyk, Malgorzata; Tabel, Yilmaz; Taranta-Janusz, Katarzyna; Testa, Sara; Thumfart, Julia; Topaloglu, Rezan; Weber, Lutz Thorsten; Wicher, Dorota; Wuehl, Elke; Wygoda, Simone; Yilmaz, Alev; Zachwieja, Katarzyna; Zagozdzon, Ilona; Zerres, Klaus; Doetsch, Joerg; Schaefer, Franz; Liebau, Max Christoph
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收藏Cortico-Limbic Connectivity in MAOA-L Carriers is Vulnerable to Acute Tryptophan Depletion
Eisner, Patrick; Klasen, Martin; Wolf, Dhana; Zerres, Klaus; Eggermann, Thomas; Eisert, Albrecht; Zvyagintsev, Mikhail; Sarkheil, Pegah; Mathiak, Krystyna A.; Zepf, Florian; Mathiak, Klaus
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收藏Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia
Wan, Jijun; Steffen, Janos; Yourshaw, Michael; Mamsa, Hafsa; Andersen, Erik; Rudnik-Schoeneborn, Sabine; Pope, Kate; Howell, Katherine B.; McLean, Catriona A.; Kornberg, Andrew J.; Joseph, Joerg; Lockhart, Paul J.; Zerres, Klaus; Ryan, Monique M.; Nelson, Stanley F.; Koehler, Carla M.; Jen, Joanna C.
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收藏Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
Knierim, Ellen; Hirata, Hiromi; Wolf, Nicole I.; Morales-Gonzalez, Susanne; Schottmann, Gudrun; Tanaka, Yu; Rudnik-Schoeneborn, Sabine; Orgeur, Mickael; Zerres, Klaus; Vogt, Stefanie; van Riesen, Anne; Gill, Esther; Seifert, Franziska; Zwirner, Angelika; Kirschner, Janbernd; Goebel, Hans Hilmar; Huebner, Christoph; Stricker, Sigmar; Meierhofer, David; Stenzel, Werner; Schuelke, Markus
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收藏DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
Schueler, Markus; Braun, Daniela A.; Chandrasekar, Gayathri; Gee, Heon Yung; Klasson, Timothy D.; Halbritter, Jan; Bieder, Andrea; Porath, Jonathan D.; Airik, Rannar; Zhou, Weibin; LoTurco, Joseph J.; Che, Alicia; Otto, Edgar A.; Boeckenhauer, Detlef; Sebire, Neil J.; Honzik, Tomas; Harris, Peter C.; Koon, Sarah J.; Gunay-Aygun, Meral; Saunier, Sophie; Zerres, Klaus; Bruechle, Nadina Ortiz; Drenth, Joost P. H.; Pelletier, Laurence; Tapia-Paez, Isabel; Lifton, Richard P.; Giles, Rachel H.; Kere, Juha; Hildebrandt, Friedhelm
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收藏Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome (vol 35, pg 1221, 2014)
Morin, Gilles; Bruechle, Nadina Ortiz; Singh, Amrathlal Rabbind; Knopp, Cordula; Jedraszak, Guillaume; Elbracht, Miriam; Bremond-Gignac, Dominique; Hartmann, Kathi; Sevestre, Henri; Deutz, Peter; Herent, Didier; Nuernberg, Peter; Romeo, Bernard; Konrad, Kerstin; Mathieu-Dramard, Michele; Oldenburg, Johannes; Bourges-Petit, Elisabeth; Shen, Yuequan; Zerres, Klaus; Ouadid-Ahidouch, Halima; Rochette, Jacques
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收藏Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome
Morin, Gilles; Bruechle, Nadina Ortiz; Singh, Amrathlal Rabbind; Knopp, Cordula; Jedraszak, Guillaume; Elbracht, Miriam; Bremond-Gignac, Dominique; Hartmann, Kathi; Sevestre, Henri; Deutz, Peter; Herent, Didier; Nuernberg, Peter; Romeo, Bernard; Konrad, Kerstin; Mathieu-Dramard, Michele; Oldenburg, Johannes; Bourges-Petit, Elisabeth; Shen, Yuequan; Zerres, Klaus; Ouadid-Ahidouch, Halima; Rochette, Jacques
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收藏Genetic variation in the G72 gene is associated with increased frontotemporal fiber tract integrity
Nickl-Jockschat, Thomas; Stoecker, Tony; Krug, Axel; Markov, Valentin; Maximov, Ivan I.; Huang, Ruiwang; Schneider, Frank; Habel, Ute; Eickhoff, Simon B.; Zerres, Klaus; Noethen, Markus M.; Rietschel, Marcella; Shah, N. Jon; Treutlein, Jens; Kircher, Tilo
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收藏SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome
Krieger, Michael; Roos, Andreas; Stendel, Claudia; Claeys, Kristl G.; Sonmez, Fatma Mujgan; Baudis, Michael; Bauer, Peter; Bornemann, Antje; de Goede, Christian; Dufke, Andreas; Finkel, Richard S.; Goebel, Hans H.; Haeussler, Martin; Kingston, Helen; Kirschner, Janbernd; Medne, Livija; Muschke, Petra; Rivier, Francois; Rudnik-Schoeneborn, Sabine; Spengler, Sabrina; Inzana, Francesca; Stanzial, Franco; Benedicenti, Francesco; Synofzik, Matthis; Lia Taratuto, Ana; Pirra, Laura; Tay, Stacey Kiat-Hong; Topaloglu, Haluk; Uyanik, Goekhan; Wand, Dorothea; Williams, Denise; Zerres, Klaus; Weis, Joachim; Senderek, Jan
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收藏Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Neveling, Kornelia; Martinez-Carrera, Lilian A.; Hoelker, Irmgard; Heister, Angelien; Verrips, Aad; Hosseini-Barkooie, Seyyed Mohsen; Gilissen, Christian; Vermeer, Sascha; Pennings, Maartje; Meijer, Rowdy; te Riele, Margot; Frijns, Catharina J. M.; Suchowersky, Oksana; MacLaren, Linda; Rudnik-Schoeneborn, Sabine; Sinke, Richard J.; Zerres, Klaus; Lowry, R. Brian; Lemmink, Henny H.; Garbes, Lutz; Veltman, Joris A.; Schelhaas, Helenius J.; Scheffer, Hans; Wirth, Brunhilde
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收藏Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
Rudnik-Schoeneborn, Sabine; Senderek, Jan; Jen, Joanna C.; Houge, Gunnar; Seeman, Pavel; Puchmajerova, Alena; Graul-Neumann, Luitgard; Seidel, Ulrich; Korinthenberg, Rudolf; Kirschner, Janbernd; Seeger, Juergen; Ryan, Monique M.; Muntoni, Francesco; Steinlin, Maja; Sztriha, Laszlo; Colomer, Jaume; Huebner, Christoph; Brockmann, Knut; Van Maldergem, Lionel; Schiff, Manuel; Holzinger, Andreas; Barth, Peter; Reardon, William; Yourshaw, Michael; Nelson, Stanley F.; Eggermann, Thomas; Zerres, Klaus
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收藏Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features
Spengler, Sabrina; Begemann, Matthias; Bruechle, Nadina Ortiz; Baudis, Michael; Denecke, Bernd; Kroisel, Peter Michael; Oehl-Jaschkowitz, Barbara; Schulze, Bernd; Raabe-Meyer, Gisela; Spaich, Christiane; Bluemel, Peter; Jauch, Anna; Moog, Ute; Zerres, Klaus; Eggermann, Thomas
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