Search Results - Alkuraya, Fowzan S.

HCN2-associated neurodevelopmental disorders: data from patients and xenopus cell models by Houdayer, Clara (Author) , Phillips, A. Marie (Author) , Chabbert, Marie (Author) , Bourreau, Jennifer (Author) , Maroofian, Reza (Author) , Houlden, Henry (Author) , Richards, Kay (Author) , Saadi, Nebal Waill (Author) , Dad'ová, Eliška (Author) , Van Bogaert, Patrick (Author) , Rupin, Mailys (Author) , Keren, Boris (Author) , Charles, Perrine (Author) , Smol, Thomas (Author) , Riquet, Audrey (Author) , Pais, Lynn (Author) , O'Donnell-Luria, Anne (Author) , VanNoy, Grace E. (Author) , Bayat, Allan (Author) , Møller, Rikke S (Author) , Olofsson, Kern (Author) , Jamra, Rami Abou (Author) , Syrbe, Steffen (Author) , Dasouki, Majed (Author) , Seaver, Laurie H. (Author) , Sullivan, Jennifer A. (Author) , Shashi, Vandana (Author) , Alkuraya, Fowzan S. (Author) , Poss, Alexis F. (Author) , Spence, J. Edward (Author) , Schnur, Rhonda E. (Author) , Forster, Ian C. (Author) , Mckenzie, Chaseley E. (Author) , Simons, Cas (Author) , Wang, Min (Author) , Snell, Penny (Author) , Kothur, Kavitha (Author) , Buckley, Michael (Author) , Roscioli, Tony (Author) , Elserafy, Noha (Author) , Dauriat, Benjamin (Author) , Procaccio, Vincent (Author) , Henrion, Daniel (Author) , Lenaers, Guy (Author) , Colin, Estelle (Author) , Verbeek, Nienke E. (Author) , Van Gassen, Koen L. (Author) , Legendre, Claire (Author) , Bonneau, Dominique (Author) , Reid, Christopher A. (Author) , Howell, Katherine B. (Author) , Ziegler, Alban (Author) , Legros, Christian (Author) ,

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

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes by Harms, Frederike Leonie (Author) , Müller, Christian (Author) , Kortüm, Fanny (Author) , Hempel, Maja (Author) , Alawi, Malik (Author) , Zaki, Maha S. (Author) , Elhossini, Rasha M. (Author) , Abdel-Hamid, Mohamed S. (Author) , AlAbdi, Lama (Author) , Alkuraya, Fowzan S. (Author) , Kurdi, Wesam (Author) , Celse, Tristan (Author) , Spodenkiewicz, Marta (Author) , Laurens, Tiphany (Author) , Dieterich, Klaus (Author) , Jagadeesh, Sujatha (Author) , Salvankar, Sandesh (Author) , Girisha, Katta M. (Author) , Kutsche, Kerstin (Author) ,

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

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants by Vogel, Georg (Author) , Mozer-Glassberg, Yael (Author) , Landau, Yuval E. (Author) , Schlieben, Lea D. (Author) , Prokisch, Holger (Author) , Feichtinger, René G. (Author) , Mayr, Johannes A. (Author) , Brennenstuhl, Heiko (Author) , Schröter, Julian (Author) , Pechlaner, Agnes (Author) , Alkuraya, Fowzan S. (Author) , Baker, Joshua J. (Author) , Barcia, Giulia (Author) , Baric, Ivo (Author) , Braverman, Nancy (Author) , Burnyte, Birute (Author) , Christodoulou, John (Author) , Ciara, Elzbieta (Author) , Coman, David (Author) , Das, Anibh M. (Author) , Darin, Niklas (Author) , Della Marina, Adela (Author) , Distelmaier, Felix (Author) , Eklund, Erik A. (Author) , Ersoy, Melike (Author) , Fang, Weiyan (Author) , Gaignard, Pauline (Author) , Ganetzky, Rebecca D. (Author) , Gonzales, Emmanuel (Author) , Howard, Caoimhe (Author) , Hughes, Joanne (Author) , Konstantopoulou, Vassiliki (Author) , Kose, Melis (Author) , Kerr, Marina (Author) , Khan, Aneal (Author) , Lenz, Dominic (Author) , McFarland, Robert (Author) , Margolis, Merav Gil (Author) , Morrison, Kevin (Author) , Müller, Thomas (Author) , Murayama, Kei (Author) , Nicastro, Emanuele (Author) , Pennisi, Alessandra (Author) , Peters, Heidi (Author) , Piekutowska-Abramczuk, Dorota (Author) , Rötig, Agnès (Author) , Santer, René (Author) , Scaglia, Fernando (Author) , Schiff, Manuel (Author) , Shagrani, Mohmmad (Author) , Sharrard, Mark (Author) , Soler-Alfonso, Claudia (Author) , Staufner, Christian (Author) , Storey, Imogen (Author) , Stormon, Michael (Author) , Taylor, Robert W. (Author) , Thorburn, David R. (Author) , Teles, Elisa Leao (Author) , Wang, Jian-She (Author) , Weghuber, Daniel (Author) , Wortmann, Saskia (Author) ,

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

Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes by Mulder, Paul (Author) , Balkom, Ingrid D. C. van (Author) , Landlust, Annemiek M. (Author) , Priolo, Manuela (Author) , Menke, Leonie A. (Author) , Acero, Ines Hernandez (Author) , Alkuraya, Fowzan S. (Author) , Arias, Pedro (Author) , Bernardini, Laura (Author) , Bijlsma, Emilia K. (Author) , Cole, Trevor (Author) , Coubes, Christine (Author) , Dapia, Irene (Author) , Davies, Sally (Author) , Di Donato, Nataliya (Author) , Elcioglu, Nursel H. (Author) , Fahrner, Jill A. (Author) , Foster, Alison (Author) , González, Noelia Garcia (Author) , Huber, Ilka (Author) , Iascone, Maria (Author) , Kaiser, Ann-Sophie (Author) , Kamath, Arveen (Author) , Kooblall, Kreepa (Author) , Lapunzina, Pablo (Author) , Liebelt, Jan (Author) , Lynch, Sally Ann (Author) , Maas, Saskia M. (Author) , Mammì, Corrado (Author) , Mathijssen, Inge B. (Author) , McKee, Shane (Author) , Mirzaa, Ghayda M. (Author) , Montgomery, Tara (Author) , Neubauer, Dorothee (Author) , Neumann, Thomas E. (Author) , Pintomalli, Letizia (Author) , Pisanti, Maria A. (Author) , Plomp, Astrid S. (Author) , Price, Sue (Author) , Salter, Claire (Author) , Santos‐Simarro, Fernando (Author) , Sarda, Pierre (Author) , Schanze, Denny (Author) , Segovia, Mabel (Author) , Shaw‐Smith, Charles (Author) , Smithson, Sarah (Author) , Suri, Mohnish (Author) , Tatton‐Brown, Katrin (Author) , Tenorio, Jair (Author) , Thakker, Rajesh V. (Author) , Valdez, Rita Maria (Author) , Haeringen, Arie van (Author) , Hagen, Johanna M. van (Author) , Zenker, Martin (Author) , Zollino, Marcela (Author) , Dunn, Winnie W. (Author) , Piening, Sigrid (Author) , Hennekam, Raoul C. (Author) ,

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

Further delineation of Malan syndrome by Priolo, Manuela (Author) , Schanze, Denny (Author) , Tatton‐Brown, Katrin (Author) , Mulder, Paul A. (Author) , Tenorio, Jair (Author) , Kooblall, Kreepa (Author) , Acero, Inés Hernández (Author) , Alkuraya, Fowzan S. (Author) , Arias, Pedro (Author) , Bernardini, Laura (Author) , Bijlsma, Emilia K. (Author) , Cole, Trevor (Author) , Coubes, Christine (Author) , Dapia, Irene (Author) , Davies, Sally (Author) , Di Donato, Nataliya (Author) , Elcioglu, Nursel H. (Author) , Fahrner, Jill A. (Author) , Foster, Alison (Author) , González, Noelia García (Author) , Huber, Ilka (Author) , Iascone, Maria (Author) , Kaiser, Ann-Sophie (Author) , Kamath, Arveen (Author) , Liebelt, Jan (Author) , Lynch, Sally Ann (Author) , Maas, Saskia M. (Author) , Mammì, Corrado (Author) , Mathijssen, Inge B. (Author) , McKee, Shane (Author) , Menke, Leonie A. (Author) , Mirzaa, Ghayda M. (Author) , Montgomery, Tara (Author) , Neubauer, Dorothee (Author) , Neumann, Thomas E. (Author) , Pintomalli, Letizia (Author) , Pisanti, Maria Antonietta (Author) , Plomp, Astrid S. (Author) , Price, Sue (Author) , Salter, Claire (Author) , Santos‐Simarro, Fernando (Author) , Sarda, Pierre (Author) , Segovia, Mabel (Author) , Shaw‐Smith, Charles (Author) , Smithson, Sarah (Author) , Suri, Mohnish (Author) , Valdez, Rita Maria (Author) , Haeringen, Arie Van (Author) , Hagen, Johanna M. Van (Author) , Zollino, Marcela (Author) , Lapunzina, Pablo (Author) , Thakker, Rajesh V. (Author) , Zenker, Martin (Author) , Hennekam, Raoul C. (Author) ,

• Resolving-System, Volltext

Cell-intrinsic adaptation arising from chronic ablation of a key Rho GTPase regulator by Cerikan, Berati (Author) , Shaheen, Ranad (Author) , Colo, Georgina P. (Author) , Gläßer, Christine (Author) , Hata, Shoji (Author) , Knobeloch, Klaus-Peter (Author) , Alkuraya, Fowzan S. (Author) , Fässler, Reinhard (Author) , Schiebel, Elmar (Author) ,

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

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome by Sanders, Anna A. W. M. (Author) , de Vrieze, Erik (Author) , Alazami, Anas M. (Author) , Alzahrani, Fatema (Author) , Malarkey, Erik B. (Author) , Sorusch, Nasrin (Author) , Tebbe, Lars (Author) , Kuhns, Stefanie (Author) , van Dam, Teunis J. P. (Author) , Alhashem, Amal (Author) , Tabarki, Brahim (Author) , Lu, Qianhao (Author) , Lambacher, Nils J. (Author) , Kennedy, Julie E. (Author) , Bowie, Rachel V. (Author) , Hetterschijt, Lisette (Author) , van Beersum, Sylvia (Author) , van Reeuwijk, Jeroen (Author) , Boldt, Karsten (Author) , Kremer, Hannie (Author) , Kesterson, Robert A. (Author) , Monies, Dorota (Author) , Abouelhoda, Mohamed (Author) , Roepman, Ronald (Author) , Huynen, Martijn H. (Author) , Ueffing, Marius (Author) , Russell, Robert B. (Author) , Wolfrum, Uwe (Author) , Yoder, Bradley K. (Author) , van Wijk, Erwin (Author) , Alkuraya, Fowzan S. (Author) , Blacque, Oliver E. (Author) ,

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