Resultados de procura - Alexander Pepler

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  1. 1
    Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis

    Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis por FAN, CHUNXIANG, KUHN, MARIUS, MBIOL, ALEXANDER PEPLER, GROOME, JAMES, WINSTON, VERN, BISKUP, SASKIA, LEHMANN-HORN, FRANK, JURKAT-ROTT, KARIN

    Publicado 2018
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  2. 2
    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

    De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies por Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria Teresa Bonati, Campbell K. Brasington, Megan T. Cho, Laurie Demmer, Tzipora C. Falik‐Zaccai, Candace Gamble, Yorck Hellenbroich, Maria Iascone, Fernando Kok, Sonal Mahida, Hanna Mandel, Thorsten Marquardt, Kirsty McWalter, Bianca Panis, Alexander Pepler, Hailey Pinz, Luiza Ramos, Deepali N. Shinde, Constance Smith‐Hicks, Alexander P.A. Stegmann, Petra Stöbe, Constance T. R. M. Stumpel, Carolyn M. Wilson, Johannes R. Lemke, Nataliya Di Donato, Kenneth G. Miller, Rami Abou Jamra

    Publicado 2019
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  3. 3
    Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations

    Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations por Sara Zagaglia, C. Selch, Jelena Radić Nišević, Davide Mei, Zuzanna Michalak, Laura Hernandez‐Hernandez, S. Krithika, Aikaterini Vezyroglou, Sophia Varadkar, Alexander Pepler, Saskia Biskup, Miguel Leão, Jutta Gärtner, Andreas Merkenschlager, Michaela Jaksch, Rikke S. Møller, Elena Gardella, Britta Schlott Kristiansen, Lars Kjærsgaard Hansen, Maria Stella Vari, Katherine L. Helbig, Sonal Desai, Constance Smith‐Hicks, Naomi Hino‐Fukuyo, Tiina Talvik, Rael Laugesaar, Pilvi Ilves, Katrin Õunap, Ingrid Körber, Till Hartlieb, Manfred Kudernatsch, Peter Winkler, Mareike Schimmel, A Hasse, Markus Knuf, Jan Heinemeyer, Christine Makowski, Sondhya Ghedia, Gopinath M. Subramanian, Pasquale Striano, Rhys H. Thomas, Caroline Micallef, Maria Thom, David J. Werring, Gerhard Kluger, J. Helen Cross, Renzo Guerrini, Simona Balestrini, Sanjay M. Sisodiya

    Publicado 2018
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  4. 4
    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome por Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften

    Publicado 2022
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