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Annals of Neurology, ISSN 0364-5134, 2018, Volume 84, Issue 5, pp. 788 - 795
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously... 
NEUROBEACHIN | AUTISM | DE-NOVO MUTATIONS | FRAMEWORK | PATIENT | SPECTRUM | NEUROSCIENCES | CLINICAL NEUROLOGY | DELETION | Autism | Phenotypes | Neurodevelopmental disorders | Patients | Epilepsy | Seizures | Life Sciences | Genetics | Human genetics
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 6, pp. 640 - 645
Journal Article
Brain, ISSN 0006-8950, 1/2010, Volume 133, Issue 1, pp. 23 - 32
Journal Article
by Redin, C and Brand, H and Collins, R.L and Kammin, T and Mitchell, E and Hodge, J.C and Hanscom, C and Pillalamarri, V and Seabra, C.M and Abbott, M.-A and Abdul-Rahman, Omar and Aberg, E and Adley, R and Alcaraz-Estrada, S.L and Alkuraya, Fowzan S and An, Y and Anderson, M.-A and Antolik, C and Anyane-Yeboa, K and Atkin, Joan and Bartell, T and Bernstein, J.A and Beyer, E and Blumenthal, I and Bongers, Ernie and Brilstra, E.H and Brown, C.W and Brüggenwirth, Hennie and Callewaert, L and Chiang, C and Corning, K and Cox, H and Cuppen, Edwin and Currall, B.B and Cushing, Tom and David, D and Deardorff, Matthew and Dheedene, Annelies and D'Hooghe, Marc and Vries, Boukje and Earl, D.L and Ferguson, H.L and Fisher, H and Fitzpatrick, David R and Gerrol, P and Giachino, D and Glessner, J.T and Gliem, T and Grady, M and Graham, B.H and Griffis, C and Gripp, Karen and Gropman, A.L and Hanson-Kahn, A and Harris, D.J and Hayden, M.A and Hill, R and Hochstenbach, R and Hoffman, J.D and Hopkin, R and Hubshman, M.W and Innes, M and Irons, M and Irving, M and Jacobsen, J.C and Janssens, Sana and Jewett, T and Johnson, J.P and Jongmans, Marjolijn and Kahler, Stephen G and Koolen, David and Korzelius, J and Kroisel, Peter and Lacassie, Y and Lawless, W and Lemyre, E and Leppig, Kathy and Levin, A.V and Li, H and Liao, E.C and Lim, C and Lose, E.J and Lucente, D and MacEra, M.J and Manavalan, P and Manile, G and Marcelis, Carlo and Margolin, L and Mason, T and Masser-Frye, Diane and McClellan, M.W and Zepeda Mendoza, C.J and Menten, B and Middelkamp, S and Mikami, L.R and Moe, E and Mohammed, Shabaz and Mononen, T and Mortenson, M.E and Moya, G and ...
Nature Genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 1, pp. 36 - 45
Journal Article
Epilepsy & Behavior, ISSN 1525-5050, 01/2019, Volume 90, pp. 217 - 227
Journal Article
Nature genetics, ISSN 1061-4036, 12/2014, Volume 46, Issue 12, pp. 1327 - 1332
Journal Article
Brain, ISSN 0006-8950, 07/2006, Volume 129, Issue 7, pp. 1892 - 1906
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2013, Volume 36, Issue 4, pp. 613 - 619
Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders... 
3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY | SEIZURES | ENZYME | AMINO-ACIDS | BIOSYNTHESIS | PATIENT | MUTATIONS | CEREBROSPINAL-FLUID | 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY | Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | PHOSPHATASE DEFICIENCY | MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Seizures - blood | Humans | Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid | Phosphoric Monoester Hydrolases - deficiency | Seizures - drug therapy | Child, Preschool | Infant | Serine - biosynthesis | Young Adult | Microcephaly - blood | Microcephaly - cerebrospinal fluid | Adult | Amino Acid Metabolism, Inborn Errors - pathology | Child | Transaminases - deficiency | Infant, Newborn | Microcephaly - drug therapy | Serine - blood | Serine - deficiency | Transaminases - cerebrospinal fluid | Amino Acid Metabolism, Inborn Errors - blood | Psychomotor Disorders - drug therapy | Serine - cerebrospinal fluid | Adolescent | Seizures - cerebrospinal fluid | Transaminases - blood | Phosphoglycerate Dehydrogenase - deficiency | Psychomotor Disorders - blood | Psychomotor Disorders - cerebrospinal fluid | Amino Acid Metabolism, Inborn Errors - drug therapy | Physiological aspects | Enzymes | Seizures (Medicine) | Serine | Medical genetics
Journal Article
Epilepsia, ISSN 0013-9580, 06/2018, Volume 59, Issue 6, pp. 1154 - 1165
Journal Article