Search Results - Isidor, Bertrand

The expanding clinical and genetic spectrum of DYNC1H1-related disorders by Möller, Birk (Author) , Becker, Lena-Luise (Author) , Saffari, Afshin (Author) , Afenjar, Alexandra (Author) , Coci, Emanuele (Author) , Williamson, Rachel (Author) , Ward-Melver, Catherine (Author) , Gibaud, Marc (Author) , Sedláčková, Lucie (Author) , Laššuthová, Petra (Author) , Libá, Zuzana (Author) , Vlčková, Markéta (Author) , William, Nancy (Author) , Klee, Eric W (Author) , Gavrilova, Ralitza H (Author) , Lévy, Jonathan (Author) , Capri, Yline (Author) , Scavina, Mena (Author) , Körner, Robert Walter (Author) , Valivullah, Zaheer (Author) , Weiß, Claudia (Author) , Möller, Greta Marit (Author) , Frazier, Zoë (Author) , Roberts, Amy (Author) , Gener, Blanca (Author) , Scala, Marcello (Author) , Striano, Pasquale (Author) , Zara, Federico (Author) , Thiel, Moritz (Author) , Sinnema, Margje (Author) , Kamsteeg, Erik-Jan (Author) , Donkervoort, Sandra (Author) , Duboc, Veronique (Author) , Zaafrane-Khachnaoui, Khaoula (Author) , Elkhateeb, Nour (Author) , Selim, Laila (Author) , Margot, Henri (Author) , Marin, Victor (Author) , Beneteau, Claire (Author) , Isidor, Bertrand (Author) , Cogne, Benjamin (Author) , Keren, Boris (Author) , Küsters, Benno (Author) , Beggs, Alan H (Author) , Sveden, Abigail (Author) , Chopra, Maya (Author) , Genetti, Casie A (Author) , Nicolai, Joost (Author) , Dötsch, Jörg (Author) , Koy, Anne (Author) , Bönnemann, Carsten G (Author) , Hagen, Maja von der (Author) , Kleist-Retzow, Jürgen-Christoph von (Author) , Voermans, Nicol C (Author) , Jungbluth, Heinz (Author) , Dafsari, Hormos Salimi (Author) ,

• Verlag, kostenfrei, Volltext

MRI in LARS1 deficiency: spectrum, patterns, and correlation with acute neurological deterioration by Hammann, Nicole Irene (Author) , Lenz, Dominic (Author) , Bianzano, Alyssa (Author) , Husain, Ralf A. (Author) , Forman, Eva (Author) , Bernstein, Jonathan A. (Author) , Dattner, Tal (Author) , Engelen, Marc (Author) , Hanson-Kahn, Andrea K. (Author) , Isidor, Bertrand (Author) , Kotzaeridou, Urania (Author) , Tietze, Anna (Author) , Trollmann, Regina (Author) , Weiß, Claudia (Author) , Wolffenbuttel, Bruce H. R. (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Crushell, Ellen (Author) , Staufner, Christian (Author) , Mohr, Alexander (Author) , Harting, Inga (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Phenotypic spectrum associated with CASK loss-of-function mutations by Moog, Ute (Author) , Kutsche, Kerstin (Author) , Kortüm, Fanny (Author) , Chilian, Bettina (Author) , Bierhals, Tatjana (Author) , Apeshiotis, Neophytos (Author) , Balg, Stefanie (Author) , Chassaing, Nicolas (Author) , Coubes, Christine (Author) , Das, Soma (Author) , Engels, Hartmut (Author) , Esch, Hilde Van (Author) , Grasshoff, Ute (Author) , Heise, Marisol (Author) , Isidor, Bertrand (Author) , Jarvis, Joanna (Author) , Koehler, Udo (Author) , Martin, Thomas (Author) , Oehl-Jaschkowitz, Barbara (Author) , Ortibus, Els (Author) , Pilz, Daniela T. (Author) , Prabhakar, Prab (Author) , Rappold, Gudrun (Author) , Rau, Isabella (Author) , Rettenberger, Günther (Author) , Schlüter, Gregor (Author) , Scott, Richard H. (Author) , Shoukier, Moonef (Author) , Wohlleber, Eva (Author) , Zirn, Birgit (Author) , Dobyns, William B. (Author) , Uyanik, Gökhan (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Phenotypic spectrum associated with CASK loss-of-function mutations by Moog, Ute (Author) , Kutsche, Kerstin (Author) , Kortüm, Fanny (Author) , Chilian, Bettina (Author) , Bierhals, Tatjana (Author) , Apeshiotis, Neophytos (Author) , Balg, Stefanie (Author) , Chassaing, Nicolas (Author) , Coubes, Christine (Author) , Das, Soma (Author) , Engels, Hartmut (Author) , Esch, Hilde Van (Author) , Grasshoff, Ute (Author) , Heise, Marisol (Author) , Isidor, Bertrand (Author) , Jarvis, Joanna (Author) , Koehler, Udo (Author) , Martin, Thomas (Author) , Oehl-Jaschkowitz, Barbara (Author) , Ortibus, Els (Author) , Pilz, Daniela T. (Author) , Prabhakar, Prab (Author) , Rappold, Gudrun (Author) , Rau, Isabella (Author) , Rettenberger, Günther (Author) , Schlüter, Gregor (Author) , Scott, Richard H. (Author) , Shoukier, Moonef (Author) , Wohlleber, Eva (Author) , Zirn, Birgit (Author) , Dobyns, William B. (Author) , Uyanik, Gökhan (Author) ,