Search Results - Alhaddad, Bader

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss by Richard, Elodie M. (Author) , Bakhtiari, Somayeh (Author) , Marsh, Ashley P. L. (Author) , Kaiyrzhanov, Rauan (Author) , Wagner, Matias (Author) , Shetty, Sheetal (Author) , Pagnozzi, Alex (Author) , Nordlie, Sandra M. (Author) , Guida, Brandon S. (Author) , Cornejo, Patricia (Author) , Magee, Helen (Author) , Liu, James (Author) , Norton, Bethany Y. (Author) , Webster, Richard I. (Author) , Worgan, Lisa (Author) , Hakonarson, Hakon (Author) , Li, Jiankang (Author) , Guo, Yiran (Author) , Jain, Mahim (Author) , Blesson, Alyssa (Author) , Rodan, Lance H. (Author) , Abbott, Mary-Alice (Author) , Comi, Anne (Author) , Cohen, Julie S. (Author) , Alhaddad, Bader (Author) , Meitinger, Thomas (Author) , Lenz, Dominic (Author) , Ziegler, Andreas (Author) , Kotzaeridou, Urania (Author) , Brunet, Theresa (Author) , Chassevent, Anna (Author) , Smith-Hicks, Constance (Author) , Ekstein, Joseph (Author) , Weiden, Tzvi (Author) , Hahn, Andreas (Author) , Zharkinbekova, Nazira (Author) , Turnpenny, Peter (Author) , Tucci, Arianna (Author) , Yelton, Melissa (Author) , Horvath, Rita (Author) , Gungor, Serdal (Author) , Hiz, Semra (Author) , Oktay, Yavuz (Author) , Lochmuller, Hanns (Author) , Zollino, Marcella (Author) , Morleo, Manuela (Author) , Marangi, Giuseppe (Author) , Nigro, Vincenzo (Author) , Torella, Annalaura (Author) , Pinelli, Michele (Author) , Amenta, Simona (Author) , Husain, Ralf A. (Author) , Grossmann, Benita (Author) , Rapp, Marion (Author) , Steen, Claudia (Author) , Marquardt, Iris (Author) , Grimmel, Mona (Author) , Grasshoff, Ute (Author) , Korenke, Christoph (Author) , Owczarek-Lipska, Marta (Author) , Neidhardt, John (Author) , Radio, Francesca Clementina (Author) , Mancini, Cecilia (Author) , Claps Sepulveda, Dianela Judith (Author) , McWalter, Kirsty (Author) , Begtrup, Amber (Author) , Crunk, Amy (Author) , Guillen Sacoto, Maria J. (Author) , Person, Richard (Author) , Schnur, Rhonda E. (Author) , Mancardi, Maria Margherita (Author) , Kreuder, Florian (Author) , Striano, Pasquale (Author) , Zara, Federico (Author) , Chung, Wendy K. (Author) , Marks, Warren A. (Author) , van Eyk, Clare L. (Author) , Webber, Dani L. (Author) , Corbett, Mark A. (Author) , Harper, Kelly (Author) , Berry, Jesia G. (Author) , MacLennan, Alastair H. (Author) , Gecz, Jozef (Author) , Tartaglia, Marco (Author) , Salpietro, Vincenzo (Author) , Christodoulou, John (Author) , Kaslin, Jan (Author) , Padilla-Lopez, Sergio (Author) , Bilguvar, Kaya (Author) , Munchau, Alexander (Author) , Ahmed, Zubair M. (Author) , Hufnagel, Robert B. (Author) , Fahey, Michael C. (Author) , Maroofian, Reza (Author) , Houlden, Henry (Author) , Sticht, Heinrich (Author) , Mane, Shrikant M. (Author) , Rad, Aboulfazl (Author) , Vona, Barbara (Author) , Jin, Sheng Chih (Author) , Haack, Tobias B. (Author) , Makowski, Christine (Author) , Hirsch, Yoel (Author) , Riazuddin, Saima (Author) , Kruer, Michael C. (Author) ,

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

Bi-allelic truncating mutations in VWA1 cause neuromyopathy by Deschauer, Marcus (Author) , Hengel, Holger (Author) , Rupprich, Katrin (Author) , Kreiß, Martina (Author) , Schlotter-Weigel, Beate (Author) , Grimmel, Mona (Author) , Admard, Jakob (Author) , Schneider, Ilka (Author) , Alhaddad, Bader (Author) , Gazou, Anastasia (Author) , Sturm, Marc (Author) , Vorgerd, Matthias (Author) , Balousha, Ghassan (Author) , Balousha, Osama (Author) , Falna, Mohammed (Author) , Kirschke, Jan S. (Author) , Kornblum, Cornelia (Author) , Jordan, Berit (Author) , Kraya, Torsten (Author) , Strom, Tim M. (Author) , Weis, Joachim (Author) , Schöls, Ludger (Author) , Schara, Ulrike (Author) , Zierz, Stephan (Author) , Riess, Olaf (Author) , Meitinger, Thomas (Author) , Haack, Tobias B. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Resolving-System, lizenzpflichtig

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics by Begemann, Anaïs (Author) , Sticht, Heinrich (Author) , Begtrup, Amber (Author) , Vitobello, Antonio (Author) , Faivre, Laurence (Author) , Banka, Siddharth (Author) , Alhaddad, Bader (Author) , Asadollahi, Reza (Author) , Becker, Jessica (Author) , Bierhals, Tatjana (Author) , Brown, Kathleen E. (Author) , Bruel, Ange-Line (Author) , Brunet, Theresa (Author) , Carneiro, Maryline (Author) , Cremer, Kirsten (Author) , Day, Robert (Author) , Denommé-Pichon, Anne-Sophie (Author) , Dyment, Dave A. (Author) , Engels, Hartmut (Author) , Fisher, Rachel (Author) , Goh, Elaine S. (Author) , Hajianpour, M. J. (Author) , Haertel, Lucia Ribeiro Machado (Author) , Hauer, Nadine (Author) , Hempel, Maja (Author) , Herget, Theresia (Author) , Johannsen, Jessika (Author) , Kraus, Cornelia (Author) , Le Guyader, Gwenaël (Author) , Lesca, Gaetan (Author) , Mau-Them, Frédéric Tran (Author) , McDermott, John Henry (Author) , McWalter, Kirsty (Author) , Meyer, Pierre (Author) , Õunap, Katrin (Author) , Popp, Bernt (Author) , Reimand, Tiia (Author) , Riedhammer, Korbinian M. (Author) , Russo, Martina (Author) , Sadleir, Lynette G. (Author) , Saenz, Margarita (Author) , Schiff, Manuel (Author) , Schuler, Elisabeth (Author) , Syrbe, Steffen (Author) , Van der Ven, Amelie Theresa (Author) , Verloes, Alain (Author) , Willems, Marjolaine (Author) , Zweier, Christiane (Author) , Steindl, Katharina (Author) , Zweier, Markus (Author) , Rauch, Anita (Author) ,

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

Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy by Danhauser, Katharina (Author) , Alhaddad, Bader (Author) , Makowski, Christine (Author) , Piekutowska-Abramczuk, Dorota (Author) , Syrbe, Steffen (Author) , Gomez-Ospina, Natalia (Author) , Manning, Melanie A. (Author) , Kostera-Pruszczyk, Anna (Author) , Krahn-Peper, Claudia (Author) , Berutti, Riccardo (Author) ,

• Resolving-System, Volltext