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Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum by Wimmer, Moritz Claudius (Author) , Brennenstuhl, Heiko (Author) , Hirsch, Steffen (Author) , Dötsch, Laura (Author) , Unser, Samy (Author) , Caro, Pilar (Author) , Schaaf, Christian P. (Author) ,

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Pathophysiological heterogeneity of the BBSOA neurodevelopmental syndrome by Bertacchi, Michele (Author) , Tocco, Chiara (Author) , Schaaf, Christian P. (Author) , Studer, Michèle (Author) ,

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

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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) ,

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A retrospective analysis of growth hormone therapy in children with Schaaf-Yang syndrome by Hebach, Nils R. (Author) , Caro, Pilar (Author) , Martin-Giacalone, Bailey A. (Author) , Lupo, Philip J. (Author) , Marbach, Felix (Author) , Choukair, Daniela (Author) , Schaaf, Christian P. (Author) ,

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Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder by Semino, Francesca (Author) , Schröter, Julian (Author) , Willemsen, Marjolein H. (Author) , Bast, Thomas (Author) , Biskup, Saskia (Author) , Beck-Woedl, Stefanie (Author) , Brennenstuhl, Heiko (Author) , Schaaf, Christian P. (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Haack, Tobias (Author) , Syrbe, Steffen (Author) ,

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Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy by O'Donnell-Luria, Anne H. (Author) , Syrbe, Steffen (Author) ,

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Allegiance and knowledge levels of professionals working with early intensive behavioural intervention in autism by Långh, Ulrika (Author) , Bölte, Sven (Author) ,

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Functioning and disability in autism spectrum disorder: a worldwide survey of experts by Schipper, Elles de (Author) , Bölte, Sven (Author) ,

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Investigation of the role of TCF4 rare sequence variants in schizophrenia by Basmanav, Fitnat Buket (Author) , Rietschel, Marcella (Author) ,

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Ability and disability in autism spectrum disorder: a systematic literature review employing the international classification of functioning,disability and health-children and yout... by Schipper, Elles de (Author) , Bölte, Sven (Author) ,

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