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Search Results - Lauerer, Robert J
Search Results - Lauerer, Robert J
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Voltage‐gated calcium channels in genetic epilepsies
by
Lauerer, Robert J.
,
Lerche, Holger
Published in
Journal of neurochemistry
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Rapid Diagnosis of Central Nervous System Scedosporiosis by Specific Quantitative Polymerase Chain Reaction Applied to Formalin-Fixed, Paraffin-Embedded Tissue
by
Lauerer, Robert J
,
Rosenow, Emely
,
Beschorner, Rudi
,
Hempel, Johann-Martin
,
Naros, Georgios
,
Hofmann, Anna
,
Berger, Katharina
,
Sartor-Pfeiffer, Jennifer
,
Mengel, Annerose
,
Ziemann, Ulf
,
Rickerts, Volker
,
Feil, Katharina
Published in
Journal of fungi (Basel)
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"Mein Urin ist lila - was ist denn da los?"
by
Lauerer, Robert J.
,
Wilpert, Jochen
Published in
MMW Fortschritte der Medizin
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
by
Helbig, Katherine L.
,
Lauerer, Robert J.
,
Bahr, Jacqueline C.
,
Souza, Ivana A.
,
Uysal, Betül
,
Gandini, Maria A.
,
Huang, Sun
,
Keren, Boris
,
Mignot, Cyril
,
Billette de Villemeur, Thierry
,
Nava, Caroline
,
Valence, Stéphanie
,
Buratti, Julien
,
Fagerberg, Christina R.
,
Soerensen, Kristina P.
,
Kamsteeg, Erik-Jan
,
Koolen, David A.
,
Gunning, Boudewijn
,
Schelhaas, H. Jurgen
,
Fox, Jordana
,
Bakhtiari, Somayeh
,
Jarrar, Randa
,
Lindstrom, Kristin
,
Jin, Sheng Chih
,
Zeng, Xue
,
Bilguvar, Kaya
,
Papavasileiou, Antigone
,
Xing, Qinghe
,
Zhu, Changlian
,
Boysen, Katja
,
Vairo, Filippo
,
Klee, Eric W.
,
Tillema, Jan-Mendelt
,
Payne, Eric T.
,
Cousin, Margot A.
,
Kruisselbrink, Teresa M.
,
Wick, Myra J.
,
Baker, Joshua
,
Smith, Nicholas
,
Angrist, Misha
,
Ashley, Patricia
,
Bidegain, Margarita
,
Chambers, Eileen
,
Cope, Heidi
,
Cotten, C. Michael
,
Curington, Theresa
,
Davis, Erica E.
,
Fisher, Kimberley
,
French, Amanda
,
Gallentine, William
,
Hill, Kevin
,
Kansagra, Sujay
,
Katsanis, Sara
,
Kurtzberg, Joanne
,
Marcus, Jeffrey
,
McDonald, Marie
,
Mikati, Mohammed
,
Miller, Stephen
,
Murtha, Amy
,
Perilla, Yezmin
,
Pizoli, Carolyn
,
Ross, Sherry
,
Sadeghpour, Azita
,
Smith, Edward
,
Wiener, John
,
Corbett, Mark A.
,
Goldmann, Eva
,
Kichula, Elizabeth
,
Segal, Eric
,
Jackson, Kelly E.
,
Asamoah, Alexander
,
McCarrier, Julie
,
Botto, Lorenzo D.
,
Tvrdik, Tatiana
,
Cascino, Gregory D.
,
Klingerman, Sherry
,
Neumann, Catherine
,
Nolan, Melinda A.
,
Snell, Russell G.
,
Lehnert, Klaus
,
Sadleir, Lynette G.
,
Kvarnung, Malin
,
Guerrini, Renzo
,
Friez, Michael J.
,
Lyons, Michael J.
,
Leonhard, Jennifer
,
Kringlen, Gabriel
,
El Achkar, Christelle M.
,
Smith, Lacey A.
,
Carss, Keren J.
,
Rankin, Julia
,
Zeman, Adam
,
Blyth, Moira
,
Kerr, Bronwyn
,
Ruiz, Karla
,
Urquhart, Jill
,
Banka, Siddharth
,
Scheffer, Ingrid E.
,
Zamponi, Gerald W.
,
Mefford, Heather C.
Published in
American journal of human genetics
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
by
Lauerer, Robert J.
,
Bahr, Jacqueline C.
,
Souza, Ivana A.
,
Myers, Candace T.
,
Schwarz, Niklas
,
Gandini, Maria A.
,
Keren, Boris
,
Mignot, Cyril
,
Afenjar, Alexandra
,
Billette de Villemeur, Thierry
,
Héron, Delphine
,
Nava, Caroline
,
Buratti, Julien
,
Fagerberg, Christina R.
,
Soerensen, Kristina P.
,
Kibaek, Maria
,
Kamsteeg, Erik-Jan
,
Schelhaas, H. Jurgen
,
Fox, Jordana
,
Bakhtiari, Somayeh
,
Jarrar, Randa
,
Padilla-Lopez, Sergio
,
Lindstrom, Kristin
,
Bilguvar, Kaya
,
Papavasileiou, Antigone
,
Xing, Qinghe
,
Boysen, Katja
,
Vairo, Filippo
,
Lanpher, Brendan C.
,
Klee, Eric W.
,
Tillema, Jan-Mendelt
,
Cousin, Margot A.
,
Baker, Joshua
,
Haan, Eric
,
Smith, Nicholas
,
Davis, Erica E.
,
Katsanis, Nicholas
,
Angrist, Misha
,
Ashley, Patricia
,
Bidegain, Margarita
,
Chambers, Eileen
,
Cope, Heidi
,
Cotten, C. Michael
,
Curington, Theresa
,
Fisher, Kimberley
,
French, Amanda
,
Gallentine, William
,
Hill, Kevin
,
Kansagra, Sujay
,
Katsanis, Sara
,
Kurtzberg, Joanne
,
Marcus, Jeffrey
,
McDonald, Marie
,
Mikati, Mohammed
,
Miller, Stephen
,
Murtha, Amy
,
Perilla, Yezmin
,
Pizoli, Carolyn
,
Ross, Sherry
,
Smith, Edward
,
Wiener, John
,
Corbett, Mark A.
,
MacLennan, Alastair H.
,
Biskup, Saskia
,
Rodan, Lance H.
,
Segal, Eric
,
Dimmock, David
,
McCarrier, Julie
,
Botto, Lorenzo D.
,
Filloux, Francis
,
Klingerman, Sherry
,
Neumann, Catherine
,
Wang, Raymond
,
Jacobsen, Jessie C.
,
Snell, Russell G.
,
Lehnert, Klaus
,
Anderlid, Britt-Marie
,
Kvarnung, Malin
,
Guerrini, Renzo
,
Lyons, Michael J.
,
Leonhard, Jennifer
,
Kringlen, Gabriel
,
Smith, Lacey A.
,
Rotenberg, Alexander
,
Poduri, Annapurna
,
Sanchis-Juan, Alba
,
Carss, Keren J.
,
Rankin, Julia
,
Zeman, Adam
,
Raymond, F. Lucy
,
Blyth, Moira
,
Kerr, Bronwyn
,
Urquhart, Jill
,
Hughes, Imelda
,
Banka, Siddharth
,
Hedrich, Ulrike B.S.
,
Scheffer, Ingrid E.
,
Zamponi, Gerald W.
,
Lerche, Holger
,
Mefford, Heather C.
Published in
American journal of human genetics
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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
by
Demidov, German
,
Yaldiz, Burcu
,
Garcia-Pelaez, José
,
de Boer, Elke
,
Schuermans, Nika
,
Van de Vondel, Liedewei
,
Paramonov, Ida
,
Johansson, Lennart F.
,
Musacchia, Francesco
,
Benetti, Elisa
,
Bullich, Gemma
,
Sablauskas, Karolis
,
Beltran, Sergi
,
Gilissen, Christian
,
Hoischen, Alexander
,
Ossowski, Stephan
,
de Voer, Richarda
,
Lohmann, Katja
,
Oliveira, Carla
,
Topf, Ana
,
Vissers, Lisenka E. L. M.
,
Laurie, Steven
Published in
Npj genomic medicine
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