Search Results

Career guidance and employment issues for neurodivergent individuals: a scoping review and stakeholder consultation by Bölte, Sven (Author) , Carpini, Joseph Alexander (Author) , Black, Melissa H. (Author) , Toomingas, Allan (Author) , Jansson, Frida (Author) , Marschik, Peter B. (Author) , Girdler, Sonya (Author) , Jonsson, Marina (Author) ,

• kostenfrei
• kostenfrei

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) ,

• lizenzpflichtig
• lizenzpflichtig

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction by Hoed, Joery den (Author) , de Boer, Elke (Author) , Voisin, Norine (Author) , Dingemans, Alexander J. M. (Author) , Guex, Nicolas (Author) , Wiel, Laurens (Author) , Nellaker, Christoffer (Author) , Amudhavalli, Shivarajan M. (Author) , Banka, Siddharth (Author) , Bena, Frederique S. (Author) , Ben-Zeev, Bruria (Author) , Bonagura, Vincent R. (Author) , Bruel, Ange-Line (Author) , Brunet, Theresa (Author) , Brunner, Han G. (Author) , Chew, Hui B. (Author) , Chrast, Jacqueline (Author) , Cimbalistienė, Loreta (Author) , Coon, Hilary (Author) , Délot, Emmanuèlle C. (Author) , Démurger, Florence (Author) , Denommé-Pichon, Anne-Sophie (Author) , Depienne, Christel (Author) , Donnai, Dian (Author) , Dyment, David A. (Author) , Elpeleg, Orly (Author) , Faivre, Laurence (Author) , Gilissen, Christian (Author) , Granger, Leslie (Author) , Haber, Benjamin (Author) , Hachiya, Yasuo (Author) , Abedi, Yasmin Hamzavi (Author) , Hanebeck, Jennifer (Author) , Hehir-Kwa, Jayne Y. (Author) , Horist, Brooke (Author) , Itai, Toshiyuki (Author) , Kotzaeridou, Urania (Author) , Orec, Laura (Author) ,

• lizenzpflichtig
• lizenzpflichtig

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) ,

• lizenzpflichtig
• lizenzpflichtig

Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia by Sirp, Alex (Author) , Roots, Kaisa (Author) , Nurm, Kaja (Author) , Tuvikene, Jürgen (Author) , Sepp, Mari (Author) , Timmusk, Tõnis (Author) ,

• lizenzpflichtig
• lizenzpflichtig

Germ cell mosaicism for AUTS2 exon 6 deletion by Gieldon, Laura (Author) , Jauch, Anna (Author) , Obeid, Katharina (Author) , Kaufmann, Lilian (Author) , Hinderhofer, Katrin (Author) , Haug, Ulrich (Author) , Moog, Ute (Author) ,

• lizenzpflichtig
• lizenzpflichtig

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) ,

• kostenfrei
• kostenfrei

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) ,

• lizenzpflichtig
• lizenzpflichtig

Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor beta signaling by Johnson, Brett (Author) , Dikow, Nicola (Author) ,

• Volltext
• Get full text

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations by Rech, Megan E. (Author) , Schaaf, Christian P. (Author) ,

• kostenfrei
• kostenfrei

Are we training psychiatrists to develop skills in intellectual disability psychiatry?: current European context and future directions by Dias, Marisa Casanova (Author) , Perera, Bhathika (Author) , Riese, Florian (Author) , Picker, Livia De (Author) , Costa, Mariana Pinto da (Author) , Petricean, Alina (Author) , Kanellopoulos, Athanasios (Author) , Krysta, Krzysztof (Author) , Baessler, Franziska (Author) ,

• lizenzpflichtig
• lizenzpflichtig

What do parents expect from a genetic diagnosis of their child with intellectual disability? by Dikow, Nicola (Author) , Moog, Ute (Author) , Karch, Stephanie (Author) , Sander, Anja (Author) , Kilian, Samuel (Author) , Reuner, Gitta (Author) ,

• Volltext

Development of a direct Aggression and Restriction Observation Checklist (AROC) for routine observation in residential and inpatient services for adults with intellectual disabilit... by Nagy, Ede (Author) , Wehmeyer, Meike (Author) , Schweitzer, Jochen (Author) ,

• Pay-per-use

An ER assembly line of AMPA-receptors controls excitatory neurotransmission and its plasticity by Schwenk, Jochen (Author) , Sprengel, Rolf (Author) ,

• Volltext
• Volltext

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

• lizenzpflichtig
• lizenzpflichtig

A Mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures by Gennarino, Vincenzo A. (Author) , Moog, Ute (Author) ,

• Volltext
• Get full text

Investigation of SHANK3 in schizophrenia by Sena Cortabitarte, Ana de (Author) , Weiß, Birgit (Author) , Röth, Ralph (Author) , Fischer, Christine (Author) , Rietschel, Marcella (Author) , Rappold, Gudrun (Author) , Berkel, Simone (Author) ,

• Volltext
• Volltext

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome by Dikow, Nicola (Author) , Granzow, Martin (Author) , Karch, Stephanie (Author) , Hinderhofer, Katrin (Author) , Paramasivam, Nagarajan (Author) , Kaufmann, Lilian (Author) , Fischer, Christine (Author) , Evers, Christina (Author) , Eils, Roland (Author) , Bartram, Claus R. (Author) , Moog, Ute (Author) ,

• Volltext
• Volltext

De Novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability by Küry, Sébastien (Author) , Moog, Ute (Author) , Hinderhofer, Katrin (Author) , Paramasivam, Nagarajan (Author) , Granzow, Martin (Author) ,

• Volltext
• Volltext

Do we manage incontinence in children and adults with special needs adequately?: ICI-RS 2014 by Gontard, Alexander von (Author) , Badawi, Jasmin Katrin (Author) ,

• Volltext
• Volltext