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Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia by Arnskötter, Carl Frederik (Author) , da Silva, Patricia Benites Goncalves (Author) , Schouw, Mackenna E. (Author) , Lukasch, Chiara (Author) , Bianchini, Luca (Author) , Sieber, Laura (Author) , Garcia-Lopez, Jesus (Author) , Ahmad, Shiekh Tanveer (Author) , Li, Yiran (Author) , Lin, Hong (Author) , Joshi, Piyush (Author) , Spänig, Lisa (Author) , Radoš, Magdalena (Author) , Roiuk, Mykola (Author) , Sepp, Mari (Author) , Zuckermann, Marc (Author) , Northcott, Paul A. (Author) , Patrizi, Annarita (Author) , Kutscher, Lena (Author) ,

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

De novo variants in RAB11B cause various degrees of lobal developmental delay and intellectual disability in children by Ahmad, Natalie (Author) , Fazeli, Walid (Author) , Schließke, Sophia (Author) , Lesca, Gaetan (Author) , Gokce-Samar, Zeynep (Author) , Mekbib, Kedous Y. (Author) , Jin, Sheng Chih (Author) , Burton, Jennifer (Author) , Hoganson, George (Author) , Petersen, Andrea (Author) , Gracie, Sara (Author) , Granger, Leslie (Author) , Bartels, Enrika (Author) , Oppermann, Henry (Author) , Kundishora, Adam (Author) , Till, Marianne (Author) , Milleret-Pignot, Clara (Author) , Dangerfield, Shane (Author) , Viskochil, David (Author) , Anderson, Katherine J. (Author) , Palculict, Timothy Blake (Author) , Schnur, Rhonda E. (Author) , Wentzensen, Ingrid M. (Author) , Tiller, George E. (Author) , Kahle, Kristopher T. (Author) , Kunz, Wolfram S. (Author) , Burkart, Sebastian (Author) , Simons, Matias (Author) , Sticht, Heinrich (Author) , Abou Jamra, Rami (Author) , Neuser, Sonja (Author) ,

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

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome by Coenen-Van der Spek, Jet (Author) , den Hoed, Joery (Author) , Snijders Blok, Lot (Author) , Dingemans, Alexander J. M. (Author) , Schijven, Dick (Author) , Nellaker, Christoffer (Author) , Venselaar, Hanka (Author) , Astuti, Galuh D. N. (Author) , Barakat, Tahsin Stefan (Author) , Bebin, E. Martina (Author) , Beck-Wödl, Stefanie (Author) , Beunders, Gea (Author) , Brown, Natasha J. (Author) , Brunet, Theresa (Author) , Brunner, Han G. (Author) , Campeau, Philippe M. (Author) , Čuturilo, Goran (Author) , Gilissen, Christian (Author) , Haack, Tobias B. (Author) , Hüning, Irina (Author) , Husain, Ralf A. (Author) , Kamien, Benjamin (Author) , Lim, Sze Chern (Author) , Lovrecic, Luca (Author) , Magg, Janine (Author) , Maver, Ales (Author) , Miranda, Valancy (Author) , Monteil, Danielle C. (Author) , Ockeloen, Charlotte W. (Author) , Pais, Lynn S. (Author) , Plaiasu, Vasilica (Author) , Raiti, Laura (Author) , Richmond, Christopher (Author) , Rieß, Angelika (Author) , Schwaibold, Eva (Author) , Simon, Marleen E. H. (Author) , Spranger, Stephanie (Author) , Tan, Tiong Yang (Author) , Thompson, Michelle L. (Author) , de Vries, Bert B. A. (Author) , Wilkins, Ella J. (Author) , Willemsen, Marjolein H. (Author) , Francks, Clyde (Author) , Vissers, Lisenka E. L. M. (Author) , Fisher, Simon E. (Author) , Kleefstra, Tjitske (Author) ,

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

De novo variants in the PABP domain of PABPC1 lead to developmental delay by Wegler, Meret (Author) , Jia, Xiangbin (Author) , Alders, Marielle (Author) , Bouman, Arjan (Author) , Chen, Jia (Author) , Duan, Xinyu (Author) , Lauzon, Julie L. (Author) , Mathijssen, Inge B. (Author) , Sticht, Heinrich (Author) , Syrbe, Steffen (Author) , Tan, Senwei (Author) , Guo, Hui (Author) , Abou Jamra, Rami (Author) ,

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

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling by Holtz, Alexander M. (Author) , VanCoillie, Rachel (Author) , Vansickle, Elizabeth A. (Author) , Carere, Deanna Alexis (Author) , Withrow, Kara (Author) , Torti, Erin (Author) , Juusola, Jane (Author) , Millan, Francisca (Author) , Person, Richard (Author) , Guillen Sacoto, Maria J. (Author) , Si, Yue (Author) , Wentzensen, Ingrid M. (Author) , Pugh, Jada (Author) , Vasileiou, Georgia (Author) , Rieger, Melissa (Author) , Reis, André (Author) , Argilli, Emanuela (Author) , Sherr, Elliott H. (Author) , Aldinger, Kimberly A. (Author) , Dobyns, William B. (Author) , Brunet, Theresa (Author) , Hoefele, Julia (Author) , Wagner, Matias (Author) , Haber, Benjamin (Author) , Kotzaeridou, Urania (Author) , Keren, Boris (Author) , Heron, Delphine (Author) , Mignot, Cyril (Author) , Heide, Solveig (Author) , Courtin, Thomas (Author) , Buratti, Julien (Author) , Murugasen, Serini (Author) , Donald, Kirsten A. (Author) , O’Heir, Emily (Author) , Moody, Shade (Author) , Kim, Katherine H. (Author) , Burton, Barbara K. (Author) , Yoon, Grace (Author) , Campo, Miguel del (Author) , Masser-Frye, Diane (Author) , Kozenko, Mariya (Author) , Parkinson, Christina (Author) , Sell, Susan L. (Author) , Gordon, Patricia L. (Author) , Prokop, Jeremy W. (Author) , Karaa, Amel (Author) , Bupp, Caleb (Author) , Raby, Benjamin A. (Author) ,

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

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) ,

• Verlag, Volltext
• Verlag

Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP by Van Dijck, Anke (Author) , Moog, Ute (Author) ,

• Verlag, Volltext
• Verlag, Volltext

Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder by Mühleisen, Thomas W. (Author) , Streit, Fabian (Author) , Strohmaier, Jana (Author) , Treutlein, Jens (Author) , Witt, Stephanie (Author) , Rietschel, Marcella (Author) ,

• Verlag, Pay-per-use, Volltext
• Verlag, Pay-per-use, Volltext

An international qualitative study of ability and disability in ADHD using the WHO-ICF framework by Mahdi, Soheil (Author) , Bölte, Sven (Author) ,

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

Towards an ICF core set for ADHD: a worldwide expert survey on ability and disability by Schipper, Elles de (Author) , Bölte, Sven (Author) ,

• Verlag, Volltext
• Verlag, Volltext