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Publications by Zanoteli, Edmar

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Number of items: 2.

Journal article

Cruz, Pedro M. Rodriguez; Cossins, Judith; Estephan, Eduardo de Paula; Munell, Francina; Selby, Kathryn; Hirano, Michio; Maroofin, Reza; Mehrjardi, Mohammad Yahya Vahidi; Chow, Gabriel; Carr, Aisling; Manzur, Adnan; Robb, Stephanie; Munot, Pinki; Liu, Wei Wei; Banka, Siddharth; Fraser, Harry; De Goede, Christian; Zanoteli, Edmar; Reed, Umbertina Conti; Sage, Abigail; Gratacos, Margarida; Macaya, Alfons; Dusl, Marina; Senderek, Jan; Topf, Ana; Hofer, Monika; Knight, Ravi; Ramdas, Sithara; Jayawant, Sandeep; Lochmüller, Hans; Palace, Jacqueline; Beeson, David (2019): The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. In: Brain, Vol. 142: pp. 1547-1560

Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bönnemann, Carsten G.; Neto, Osorio Abath; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araujo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; Goede, Christian de; Silva, Tamiris Borges da; Hathazi, Denisa; Dell'Aica, Margherita; Zahedi, Rene P.; Thiele, Simone; Müller, Juliane; Kingston, Helen; Müller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmüller, Hanns; Senderek, Jan (2017): Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. In: American Journal of Human Genetics, Vol. 100, No. 3: pp. 523-536 [PDF, 2MB]

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