-
1دورية أكاديمية
المؤلفون: Valentina Peycheva, Neviana Ivanova, Kunka Kamenarova, Irina Tsekova, Iliyana Aleksandrova, Veneta Bozhinova, Maria Bozhidarova, Ivan Litvinenko, Dimitrina Hristova, Vanyo Mitev, Radka Kaneva, Albena Jordanova
المصدر: Biotechnology & Biotechnological Equipment, Vol 31, Iss 1, Pp 138-142 (2017)
مصطلحات موضوعية: KCNQ2 mutations, BFNS, BFNIS, BFIS, 20q13.33 deletion, Biotechnology, TP248.13-248.65
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Kolaitis, G. (Gerasimos), Bouwkamp, C.G. (Christian G.), Papakonstantinou, A. (Alexia), Otheiti, I. (Ioanna), Belivanaki, M. (Maria), Haritaki, S. (Styliani), Korpa, T. (Terpsihori), Albani, Z. (Zinovia), Terzioglou, E. (Elena), Apostola, P. (Polyxeni), Skamnaki, A. (Aggeliki), Xaidara, A. (Athena), Kosma, K. (Konstantina), Kitsiou-Tzeli, S. (Sophia), Tzetis, M. (Maria)
المصدر: Child and Adolescent Psychiatry and Mental Health vol. 10 no. 1
مصطلحات موضوعية: 11p15.5 deletion, 20q13.33 deletion syndrome, XYY syndrome, 7q11.23 Williams-Beuren syndrome region micro duplication, ADHD, ASD, Conduct disorder
الوقت: 47
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/97583Test; urn:hdl:1765/97583
-
3تقرير
المؤلفون: Kolaitis, Gerasimos, Bouwkamp, Christian, Papakonstantinou, Alexia, Otheiti, Ioanna, Belivanaki, Maria, Haritaki, Styliani, Korpa, Terpsihori, Albani, Zinovia, Terzioglou, Elena, Apostola, Polyxeni, Skamnaki, Aggeliki, Xaidara, Athena, Kosma, Konstantina, Kitsiou-Tzeli, Sophia, Tzetis, Maria
مصطلحات موضوعية: XYY syndrome, 7q11.23 Williams–Beuren syndrome region micro duplication, Conduct disorder, ADHD, ASD, 20q13.33 deletion syndrome, 11p15.5 deletion
الوقت: 47
-
4
المؤلفون: Neviana Ivanova, Vanyo Mitev, Irina Tsekova, D. Hristova, Maria Bozhidarova, Radka Kaneva, Veneta Bozhinova, Albena Jordanova, Valentina Peycheva, Ivan Litvinenko, Kunka Kamenarova, Iliyana Aleksandrova
المصدر: Biotechnology, biotechnological equipment
Biotechnology & Biotechnological Equipment, Vol 31, Iss 1, Pp 138-142 (2017)مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, lcsh:Biotechnology, BFIS, First year of life, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, lcsh:TP248.13-248.65, medicine, Missense mutation, Benign familial neonatal seizures, Biology, Gene, KCNQ2 mutations, BFNS, business.industry, Point mutation, 20q13.33 deletion, medicine.disease, BFNIS, Good prognosis, Dominant inheritance, business, Engineering sciences. Technology, 030217 neurology & neurosurgery, Biotechnology, Comparative genomic hybridization
وصف الملف: pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccd039d3f969e6c091db430dd3801ecbTest
https://doi.org/10.1080/13102818.2016.1259017Test -
5
المؤلفون: Settara C. Chandrasekharappa, Daniel E. Pineda-Alvarez, Amelia A. Keaton, Aparna Kamat, Donald W. Hadley, Manu S. Raam, Hannah Carlson-Donohoe, Benjamin D. Solomon, Nneamaka B. Agochukwu
المصدر: Birth Defects Research. Part A, Clinical and Molecular Teratology
مصطلحات موضوعية: Heart Defects, Congenital, Male, Embryology, Pathology, medicine.medical_specialty, Candidate gene, Fistula, Chromosomes, Human, Pair 20, Case Report, GTPBP5, Tracheoesophageal fistula, Genitalia, Male, Biology, tracheo-esophageal fistula, VACTERL association, medicine, Humans, Urinary Tract, Gene, Monomeric GTP-Binding Proteins, Genitourinary system, Infant, Newborn, 20q13.33 deletion, Chromosome, General Medicine, medicine.disease, Surgery, Atresia, embryonic structures, Pediatrics, Perinatology and Child Health, Chromosome Deletion, Tracheoesophageal Fistula, TE fistula, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a47eb46384e386f2cbf5ba0f80f76172Test
https://doi.org/10.1002/bdra.20821Test -
6
المؤلفون: Klaas J. Wierenga, Franchette T. Pascual, Yu-Tze Ng
المصدر: Epilepsy & Behavior Case Reports
مصطلحات موضوعية: KCNQ2, Pediatrics, medicine.medical_specialty, Mutation, Pathology, Benign familial neonatal seizures, business.industry, 20q13.33 deletion, Case Report, Autosomal dominant nocturnal frontal lobe epilepsy, medicine.disease, medicine.disease_cause, Phenotype, Behavioral Neuroscience, Neurology, CHRNA4, Medicine, Brain magnetic resonance imaging, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::481052e040c70256ad916e90ace0a6c1Test
-
7
المؤلفون: Aggeliki Skamnaki, Terpsihori Korpa, Elena Terzioglou, Athena Xaidara, Sophia Kitsiou-Tzeli, Maria Tzetis, Gerasimos Kolaitis, Maria Belivanaki, Alexia Papakonstantinou, Ioanna Otheiti, Polyxeni Apostola, Konstantina Kosma, Styliani Haritaki, Zinovia Albani, Christian G. Bouwkamp
المساهمون: Child and Adolescent Psychiatry / Psychology, Psychiatry
المصدر: Child and Adolescent Psychiatry and Mental Health
Child and Adolescent Psychiatry and Mental Health, 10:33. BioMed Central Ltd.مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, 47,XYY syndrome, Language delay, 11p15.5 deletion, Case Report, 030105 genetics & heredity, ASD, Conduct disorder, 03 medical and health sciences, 0302 clinical medicine, Psychiatric history, Borderline intellectual functioning, medicine, Child and adolescent psychiatry, Attention deficit hyperactivity disorder, ADHD, 20q13.33 deletion syndrome, Pediatrics, Perinatology, and Child Health, Psychiatry, 7q11.23 Williams–Beuren syndrome region micro duplication, medicine.disease, 3. Good health, Psychiatry and Mental health, Pediatrics, Perinatology and Child Health, XYY syndrome, Autism, Psychology, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::400bb18bb45a2d820cf97c5567581b82Test
-
8مورد إلكتروني
النص الكامل