المؤلفون: Justine Rousseau, Samuel Boris Tene Tadoum, Marisol Lavertu Jolin, Thi Tuyet Mai Nguyen, Norbert Fonya Ajeawung, Ann M. Flenniken, Lauryl M. J. Nutter, Igor Vukobradovic, Elsa Rossignol, Philippe M. Campeau

المصدر: Genes; Volume 14; Issue 8; Pages: 1538

مصطلحات موضوعية: Atp6v1b2, R506, mice, locomotor hyperactivity, diminished anxiety-related behavior, epilepsy

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/genes14081538

الاتاحة: https://doi.org/10.3390/genes14081538

المؤلفون: Nissan Vida Baratang, Daniel Alexander Jimenez Cruz, Norbert Fonya Ajeawung, Thi Tuyet Mai Nguyen, Guillermo Pacheco‐Cuéllar, Philippe M. Campeau

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)

مصطلحات موضوعية: genetic disorders, GPI biosynthesis, GPI‐anchored proteins, LOVD, PIG, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/fce5bdbba3184c82b644d4fb9e32049e

المؤلفون: Rousseau, Justine, Tene Tadoum, Samuel Boris, Lavertu Jolin, Marisol, Nguyen, Thi Tuyet Mai, Ajeawung, Norbert Fonya, Flenniken, Ann M., Nutter, Lauryl M. J., Vukobradovic, Igor, Rossignol, Elsa, Campeau, Philippe M.

المصدر: Genes; Aug2023, Vol. 14 Issue 8, p1538, 13p

مصطلحات موضوعية: SYNAPTIC vesicles, SEIZURES (Medicine), MICE, HYPERACTIVITY, INTELLECTUAL disabilities, AGENESIS of corpus callosum, ELECTROENCEPHALOGRAPHY

المؤلفون: Mucha, B.E., Banka, S., Ajeawung, N.F., Molidperee, S., Chen, G.G., Koenig, M.K., Adejumo, R.B., Till, M., Harbord, M., Perrier, R., Lemyre, E., Boucher, R.M., Skotko, B.G., Waxler, J.L., Thomas, M.A., Hodge, J.C., Gecz, J., Nicholl, J., McGregor, L., Linden, T.

المصدر: http://dx.doi.org/10.1038/s41436-018-0290-3.

مصطلحات موضوعية: 16p13.3, Epilepsy, Microcephaly, Microdeletion, TBC1D24, Chromosomes, Human, Pair 16, Humans, Chromosome Deletion, Syndrome, Vacuolar Proton-Translocating ATPases, GTPase-Activating Proteins, Membrane Proteins, Nerve Tissue Proteins, Cohort Studies, Developmental Disabilities, Adolescent, Adult, Child, Preschool, Infant, Female, Male, Young Adult, Intellectual Disability, 3-Phosphoinositide-Dependent Protein Kinases

Relation: Genetics in Medicine, 2019; 21(5):1058-1064; https://hdl.handle.net/2440/140612; Gecz, J. [0000-0002-7884-6861]

الاتاحة: https://hdl.handle.net/2440/140612
https://doi.org/10.1038/s41436-018-0290-3

المؤلفون: Baratang, Nissan Vida, Jimenez Cruz, Daniel Alexander, Ajeawung, Norbert Fonya, Nguyen, Thi Tuyet Mai, Pacheco‐Cuéllar, Guillermo, Campeau, Philippe M.

المصدر: Molecular Genetics & Genomic Medicine; Jul2019, Vol. 7 Issue 7, pN.PAG-N.PAG, 1p

مصطلحات موضوعية: ONLINE databases, MOLECULAR genetics, HUMAN genome, GENE frequency, DATABASES, BIOSYNTHESIS