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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 05/2012, Volume 160C, Issue 2, pp. 104 - 110
Journal Article
BMC Medicine, ISSN 1741-7015, 10/2009, Volume 7, Issue 1, pp. 63 - 63
The autism spectrum disorders are a group of conditions with neurobehavioral impairment affecting approximately 0.6% of children. The clinical presentation is... 
CHROMOSOME | MEDICINE, GENERAL & INTERNAL | OXTR | GENE | BEHAVIOR | SPECTRUM DISORDERS | TRAITS | FETAL TESTOSTERONE | ASSOCIATION | VACCINES | Oxytocin - deficiency | Receptors, Oxytocin - genetics | Humans | Gene Expression Regulation | Child, Preschool | Female | Infant | Male | Child | Autistic Disorder - etiology | Autism | Gene mutations | Oxytocin | Genetic aspects | Research | Health aspects | Risk factors
Journal Article
Lancet Neurology, ISSN 1474-4422, 2014, Volume 13, Issue 5, pp. 503 - 514
Journal Article
by Heinzen, Erin L and Swoboda, Kathryn J and Hitomi, Yuki and Gurrieri, Fiorella and De Vries, Boukje and Tiziano, F. Danilo and Fontaine, Bertrand and Walley, Nicole M and Heavin, Sinéad and Panagiotakaki, Eleni and Fiori, Stefania and Abiusi, Emanuela and Di Pietro, Lorena and Sweney, Matthew T and Newcomb, Tara M and Viollet, Louis and Huff, Chad and Jorde, Lynn B and Reyna, Sandra P and Murphy, Kelley J and Shianna, Kevin V and Gumbs, Curtis E and Little, Latasha and Silver, Kenneth and Ptáček, Louis J and Haan, Joost and Ferrari, Michel D and Bye, Ann M and Herkes, Geoffrey K and Whitelaw, Charlotte M and Webb, David and Lynch, Bryan J and Uldall, Peter and King, Mary D and Scheffer, Ingrid E and Neri, Giovanni and Arzimanoglou, Alexis and Van Den Maagdenberg, Arn M.J.M and Sisodiya, Sanjay M and Mikati, Mohamad A and Goldstein, David B and Koelewijn, Stephany and Kamphorst, Jessica and Geilenkirchen, Marije and Pelzer, Nadine and Ferrari, Michel and Van Den Maagdenberg, Arn and Zucca, Claudio and Franchini, Filippo and Vavassori, Rosaria and Giannotta, Melania and Gobbi, Giuseppe and Granata, Tiziana and Nardocci, Nardo and De Grandis, Elisa and Veneselli, Edvige and Stagnaro, Michela and Vigevano, Federico and Oechsler, Claudia and Nicole, Sophie and Ninan, Miriam and Neville, Brian and Ebinger, Friedrich and Fons, Carmen and Campistol, Jaume and Kemlink, David and Nevsimalova, Sona and Laan, Laura and Peeters-Scholte, Cacha and Casaer, Paul and Casari, Giorgio and Sange, Guenter and Spiel, Georg and Boneschi, Filippo Martinelli and Bassi, Maria Teresa and Schyns, Tsveta and Crawley, Francis and Poncelin, Dominique and European Alternating Hemiplegia and European Network Res Alternating and Biobanca Registro Clinico and European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium and European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium and Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1030 - 1034
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 03/2013, Volume 21, Issue 3, pp. 310 - 316
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 9, pp. 1361 - 1368
PFAPA is an autoinflammatory syndrome characterized by periodic fever, aphthous stomatitis, sterile pharingitis, and adenitis, with an onset usually before the... 
DISORDER | CERVICAL ADENITIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | TIFA | GENETICS & HEREDITY | Aphthous stomatitis | Stomatitis | Animal breeding | Pedigree | Adenitis | Forkhead protein | Foot-and-mouth disease | Heptose | Pharyngitis | Fever
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2016, Volume 170, Issue 10, pp. 2698 - 2705
Journal Article