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Plant biotechnology journal, ISSN 1467-7644, 2018, Volume 16, Issue 9, pp. 1569 - 1581
Journal Article
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2231 - 2237
De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase‐activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual... 
epilepsy | hypertrichosis | SYNGAP1 | strabismus | syndrome | DDD study | 6p21.3 microdeletion | behavioral phenotype | hip dysplasia | intellectual disability | Intellectual disability | Strabismus | Hip dysplasia | Epilepsy | Behavioral phenotype | Hypertrichosis | Syndrome | AUTISM | GENE | GENETICS & HEREDITY | PATIENT | Constipation - genetics | Humans | Child, Preschool | Male | Epilepsies, Myoclonic - pathology | Gait Disorders, Neurologic - genetics | Strabismus - genetics | Intellectual Disability - genetics | Muscle Hypotonia - diagnosis | Hip Dislocation - pathology | ras GTPase-Activating Proteins - genetics | Constipation - diagnosis | DNA Mutational Analysis | Epilepsies, Myoclonic - diagnosis | Strabismus - pathology | Gait Disorders, Neurologic - pathology | Female | Child | Epilepsies, Myoclonic - genetics | Gene Expression | Muscle Hypotonia - genetics | Hip Dislocation - genetics | Intellectual Disability - pathology | Strabismus - diagnosis | Constipation - pathology | Twins, Monozygotic | Gait Disorders, Neurologic - diagnosis | Haploinsufficiency | Muscle Hypotonia - pathology | Phenotype | Intellectual Disability - diagnosis | Adolescent | Heterozygote | Hip Dislocation - diagnosis | Mutation | Sleep disorders | Dysplasia | Sleep | Genetic research | Genetic aspects | Seizures (Medicine) | Twins | Neuroimaging | Phenotypes | Aggressive behavior | Gait | Intellectual disabilities | Copy number | Gene deletion | Neurodevelopmental disorders | Hip | Magnetic resonance imaging | Nose | Bone dysplasia | Constipation | Seizures | Guanosinetriphosphatase | New Syndrome
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2017, Volume 54, Issue 9, pp. 613 - 623
Journal Article
by Mignot, Cyril and McMahon, Aoife C and Bar, Claire and Campeau, Philippe M and Davidson, Claire and Buratti, Julien and Nava, Caroline and Jacquemont, Marie-Line and Tallot, Marilyn and Milh, Mathieu and Edery, Patrick and Marzin, Pauline and Barcia, Giulia and Barnerias, Christine and Besmond, Claude and Bienvenu, Thierry and Bruel, Ange-Line and Brunga, Ledia and Ceulemans, Berten and Coubes, Christine and Cristancho, Ana G and Cunningham, Fiona and Dehouck, Marie-Bertille and Donner, Elizabeth J and Duban-Bedu, Bénédicte and Dubourg, Christèle and Gardella, Elena and Gauthier, Julie and Geneviève, David and Gobin-Limballe, Stéphanie and Goldberg, Ethan M and Hagebeuk, Eveline and Hamdan, Fadi F and Hančárová, Miroslava and Hubert, Laurence and Ioos, Christine and Ichikawa, Shoji and Janssens, Sandra and Journel, Hubert and Kaminska, Anna and Keren, Boris and Koopmans, Marije and Lacoste, Caroline and Laššuthová, Petra and Lederer, Damien and Lehalle, Daphné and Marjanovic, Dragan and Métreau, Julia and Michaud, Jacques L and Miller, Kathryn and Minassian, Berge A and Morales, Joannella and Moutard, Marie-Laure and Munnich, Arnold and Ortiz-Gonzalez, Xilma R and Pinard, Jean-Marc and Prchalová, Darina and Putoux, Audrey and Quelin, Chloé and Rosen, Alyssa R and Roume, Joelle and Rossignol, Elsa and Simon, Marleen E. H and Smol, Thomas and Shur, Natasha and Shelihan, Ivan and Štěrbová, Katalin and Vyhnálková, Emílie and Vilain, Catheline and Soblet, Julie and Smits, Guillaume and Yang, Samuel P and van der Smagt, Jasper J and van Hasselt, Peter M and van Kempen, Marjan and Weckhuysen, Sarah and Helbig, Ingo and Villard, Laurent and Héron, Delphine and Koeleman, Bobby and Møller, Rikke S and Lesca, Gaetan and Helbig, Katherine L and Nabbout, Rima and Verbeek, Nienke E and Depienne, Christel
Genetics in medicine, ISSN 1530-0366, 2018, Volume 21, Issue 4, pp. 837 - 849
Journal Article
by Wolff, Markus and Johannesen, Katrine M and Hedrich, Ulrike B. S and Masnada, Silvia and Rubboli, Guido and Gardella, Elena and Lesca, Gaetan and Ville, Dorothée and Milh, Mathieu and Villard, Laurent and Afenjar, Alexandra and Chantot-Bastaraud, Sandra and Mignot, Cyril and Lardennois, Caroline and Nava, Caroline and Schwarz, Niklas and Gérard, Marion and Perrin, Laurence and Doummar, Diane and Auvin, Stéphane and Miranda, Maria J and Hempel, Maja and Brilstra, Eva and Knoers, Nine and Verbeek, Nienke and van Kempen, Marjan and Braun, Kees P and Mancini, Grazia and Biskup, Saskia and Hörtnagel, Konstanze and Döcker, Miriam and Bast, Thomas and Loddenkemper, Tobias and Wong-Kisiel, Lily and Baumeister, Friedrich M and Fazeli, Walid and Striano, Pasquale and Dilena, Robertino and Fontana, Elena and Zara, Federico and Kurlemann, Gerhard and Klepper, Joerg and Thoene, Jess G and Arndt, Daniel H and Deconinck, Nicolas and Schmitt-Mechelke, Thomas and Maier, Oliver and Muhle, Hiltrud and Wical, Beverly and Finetti, Claudio and Brückner, Reinhard and Pietz, Joachim and Golla, Günther and Jillella, Dinesh and Linnet, Karen M and Charles, Perrine and Moog, Ute and Õiglane-Shlik, Eve and Mantovani, John F and Park, Kristen and Deprez, Marie and Lederer, Damien and Mary, Sandrine and Scalais, Emmanuel and Selim, Laila and Van Coster, Rudy and Lagae, Lieven and Nikanorova, Marina and Hjalgrim, Helle and Korenke, G. Christoph and Trivisano, Marina and Specchio, Nicola and Ceulemans, Berten and Dorn, Thomas and Helbig, Katherine L and Hardies, Katia and Stamberger, Hannah and de Jonghe, Peter and Weckhuysen, Sarah and Lemke, Johannes R and Krägeloh-Mann, Ingeborg and Helbig, Ingo and Kluger, Gerhard and Lerche, Holger and Møller, Rikke S
Brain (London, England : 1878), ISSN 1460-2156, 2017, Volume 140, Issue 5, pp. 1316 - 1336
Journal Article