المؤلفون: Pankaj S. Ghate, Janay M. Vacharasin, Joseph A. Ward, Duncan Nowling, Valerie Kay, Mara H. Cowen, Mary-Kate Lawlor, Mikayla McCord, Hailey Xu, Esteban Carmona, Seon-Hye Cheon, Evelyn Chukwurah, Mike Walla, Sofia B. Lizarraga

المصدر: Neurobiology of Disease, Vol 184, Iss , Pp 106215- (2023)

مصطلحات موضوعية: RAB3GAP1, DOCK7, TMF1, Human cortical neurons, Stem cells, Warburg Micro syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996123002309; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/1e2e5d0907f14014921f830430d87eb3

المؤلفون: Qiwei Wang, Tingfeng Qin, Xun Wang, Jing Li, Xiaoshan Lin, Dongni Wang, Zhuoling Lin, Xulin Zhang, Xiaoyan Li, Haotian Lin, Weirong Chen

المصدر: Genes; Volume 13; Issue 12; Pages: 2364

مصطلحات موضوعية: Warburg Micro syndrome, copy number variation, early diagnosis, RAB3GAP1

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13122364

الاتاحة: https://doi.org/10.3390/genes13122364

المؤلفون: Carpanini, Sarah Marie

المساهمون: Jackson, Ian, Abbott, Catherine

مصطلحات موضوعية: 616.8, Warburg Micro syndrome, RAB18, neuropathological analysis, mouse models

URL الوصول: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.630336

المؤلفون: Mutlu Albayrak, Hatice, ElçioÄŸlu, Nursel H., Yeter, Burcu, Karaer, Kadri

مصطلحات موضوعية: female, gastrointestinal disease, gene, gene deletion, gene duplication, gene identification, genetic analysis, genotype, human, Rab protein, congenital cataract, corpus callosum hypo/agenesia, RAB3GAP1, Warburg-Micro syndrome, Article, autosomal recessive disorder, bone malformation, brain radiography, child, child growth, clinical article, clinical feature, consanguineous marriage, corpus callosum agenesis, correlation analysis, craniofacial malformation, disease association, eye examination, homozygote, infant

Relation: American Journal of Medical Genetics, Part A; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1002/ajmg.a.62234; https://hdl.handle.net/11499/47314; 185; 2325; 2334

الاتاحة: https://hdl.handle.net/11499/47314
https://doi.org/10.1002/ajmg.a.62234

المؤلفون: T. Mhlanga‐Mutangadura, G.S. Johnson, A. Ashwini, G.D. Shelton, Sara A. Jablonski Wennogle, G.C. Johnson, K. Kuroki, D.P. O'Brien

المصدر: Journal of Veterinary Internal Medicine, Vol 30, Iss 3, Pp 813-818 (2016)

مصطلحات موضوعية: Canine, Molecular genetics, Peripheral nervous system disorders, Rab GTPase, Spongiform encephalopathies, Warburg micro syndrome, Veterinary medicine, SF600-1100

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0891-6640; https://doaj.org/toc/1939-1676

URL الوصول: https://doaj.org/article/47b10adad4b6456fa9e9dd12d0074ee9

المؤلفون: Ullah W, Ilyas M, Tariq M, Imdad M, Ullah I, Efthymiou S, Faheem M, Abbas M, SYNAPS Study Group, Aguennouz M, Di Rosa G, Aamir M, Nouman M, Houlden H.

المساهمون: Ullah, W, Ilyas, M, Tariq, M, Imdad, M, Ullah, I, Efthymiou, S, Faheem, M, Abbas, M, SYNAPS Study, Group, Aguennouz, M, Di Rosa, G, Aamir, M, Nouman, M, Houlden, H.

مصطلحات موضوعية: Micro syndrome, RAB3GAP1, Rab18, WARBM, spastic diplegia

Relation: info:eu-repo/semantics/altIdentifier/pmid/37186309; info:eu-repo/semantics/altIdentifier/wos/WOS:000974553300001; volume:83; issue:4; firstpage:368; lastpage:373; numberofpages:6; journal:INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE; https://hdl.handle.net/11570/3281476; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153736032

الاتاحة: https://hdl.handle.net/11570/3281476
https://doi.org/10.1002/jdn.10264

المؤلفون: Tendai Mhlanga-Mutangadura, Gary S. Johnson, Robert D. Schnabel, Jeremy F. Taylor, Gayle C. Johnson, Martin L. Katz, G. Diane Shelton, Teresa E. Lever, Elizabeth Giuliano, Nicolas Granger, Jeremy Shomper, Dennis P. O'Brien

المصدر: Neurobiology of Disease, Vol 86, Iss , Pp 75-85 (2016)

مصطلحات موضوعية: Warburg micro syndrome, Martsolf syndrome, Spongiform encephalopathy, Endoplasmic reticulum, Rab GTPase, Membrane trafficking, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996115300930; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/8b873ac3eb8d4cee993426dcab25ef8e

المؤلفون: Mark T. Handley, André Mégarbané, Alison M. Meynert, Stephen Brown, Elisabeth Freyer, Martin S. Taylor, Ian J. Jackson, Irene A. Aligianis

المصدر: Molecular Genetics & Genomic Medicine, Vol 2, Iss 4, Pp 319-325 (2014)

مصطلحات موضوعية: ARCL3A, cutis laxa, lipid droplets, Warburg Micro syndrome, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/ebe39d83cd9e4ac9b1cc74a82d2be71d

المؤلفون: Sarah M. Carpanini, Lisa McKie, Derek Thomson, Ann K. Wright, Sarah L. Gordon, Sarah L. Roche, Mark T. Handley, Harris Morrison, David Brownstein, Thomas M. Wishart, Michael A. Cousin, Thomas H. Gillingwater, Irene A. Aligianis, Ian J. Jackson

المصدر: Disease Models & Mechanisms, Vol 7, Iss 6, Pp 711-722 (2014)

مصطلحات موضوعية: Warburg Micro syndrome, Cataract, Neurofilament, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/7/6/711; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/7ee88395268c4182a3fb4231866f3820

المؤلفون: Mohamed S. Abdel-Hamid, Mahmoud Y. Issa, Laila K. Effat, Maha S. Zaki, Lubna M. Desouky, Sherif F. Abdel‐Ghafar, Suzan R. Ismail

المصدر: Clinical Genetics. 98:445-456

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, rab3 GTP-Binding Proteins, DNA Mutational Analysis, 030105 genetics & heredity, medicine.disease_cause, Microphthalmia, Cataract, Cornea, 03 medical and health sciences, Atrophy, Intellectual Disability, Genetics, medicine, Polymicrogyria, Humans, Abnormalities, Multiple, Genetics (clinical), Exome sequencing, Mutation, business.industry, Micro syndrome, Hypogonadism, Brain, medicine.disease, Pedigree, rab1 GTP-Binding Proteins, Optic Atrophy, 030104 developmental biology, rab GTP-Binding Proteins, Microcephaly, Congenital cataracts, Pectus carinatum, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39ec290a0318b8042a2013753c0945ef
https://doi.org/10.1111/cge.13825

المؤلفون: Vacharasin, Janay

المصدر: Theses and Dissertations

مصطلحات موضوعية: Autism, Epigenetics, Neurodevelopment, Warburg Micro syndrome, Biology

وصف الملف: application/pdf

Relation: https://scholarcommons.sc.edu/etd/6909; https://scholarcommons.sc.edu/context/etd/article/7844/viewcontent/Vacharasin_sc_0202A_18357.pdf

الاتاحة: https://scholarcommons.sc.edu/etd/6909
https://scholarcommons.sc.edu/context/etd/article/7844/viewcontent/Vacharasin_sc_0202A_18357.pdf

المؤلفون: Nursel Elcioglu, Hatice Mutlu Albayrak, Burcu Yeter, Kadri Karaer

المصدر: American journal of medical genetics. Part AREFERENCES. 185(8)

مصطلحات موضوعية: Male, RAB3GAP1 protein, human, correlation analysis, genotype, rab3 GTP-Binding Proteins, consanguineous marriage, genetic analysis, Diagnostic Techniques, Ophthalmological, Corpus callosum, preschool child, Turkey (republic), Cornea, newborn, Pathognomonic, Rab protein, neurologic examination, Genotype, nuclear magnetic resonance imaging, Genetics (clinical), child, clinical article, Homozygote, allele, optic nerve atrophy, Syrian, syndrome, Magnetic Resonance Imaging, corpus callosum agenesis, RAB3GAP1, Phenotype, child growth, genetic association study, Child, Preschool, visual system examination, Congenital cataracts, Microcephaly, eye examination, Female, gastrointestinal disease, Warburg micro syndrome, medicine.medical_specialty, RAB3GAP1 gene, brain radiography, patient referral, Article, Cataract, craniofacial malformation, bone malformation, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, human, Dysmorphic facial features, gene, Alleles, Genetic Association Studies, gene identification, autosomal recessive disorder, gene deletion, Genetic heterogeneity, business.industry, intellectual impairment, Hypogonadism, disease association, corpus callosum hypo/agenesia, gene duplication, Warburg Micro syndrome type, Infant, Newborn, Facies, Infant, multiple malformation syndrome, medicine.disease, Dermatology, clinical feature, Optic Atrophy, congenital cataract, Mutation, Warburg-Micro syndrome, Genetic diagnosis, business, genetic predisposition

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a957bd51e66040fa152737d5f71056a
https://pubmed.ncbi.nlm.nih.gov/33951304

المؤلفون: Sakane, Ayuko, Manabe, Shinji, Ishizaki, Hiroyoshi, Tanaka-Okamoto, Miki, Kiyokage, Emi, Toida, Kazunori, Yoshida, Takayuki, Miyoshi, Jun, Kamiya, Haruyuki, Takai, Yoshimi, Sasaki, Takuya

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2006 Jun . 103(26), 10029-10034.

URL الوصول: https://www.jstor.org/stable/30051035

المؤلفون: KOCAAĞA, Ayça, YİMENİCİOĞLU, Sevgi

المصدر: Volume: 6, Issue: 2 231-234
Batı Karadeniz Tıp Dergisi
Medical Journal of Western Black Sea

مصطلحات موضوعية: Health Care Sciences and Services, Sağlık Bilimleri ve Hizmetleri, congenital cataracts, gene mutation, homozygous, TBC1D20, Warburg micro syndrome, Whole exome sequencing, konjenital katarakt, gen mutasyonu, homozigot, Warburg mikro sendromu, Tüm ekzom dizileme

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=tubitakulakb::0b1b8b4a2224b060fd93ab2f046ea358
https://dergipark.org.tr/tr/pub/mjwbs/issue/72438/1024327

المؤلفون: KOCAAĞA, Ayça, YİMENİCİOĞLU, Sevgi

المصدر: Volume: 6, Issue: 2 231-234 ; 2822-4302 ; 2587-0602 ; Batı Karadeniz Tıp Dergisi ; Medical Journal of Western Black Sea

مصطلحات موضوعية: konjenital katarakt, gen mutasyonu, homozigot, TBC1D20, Warburg mikro sendromu, Tüm ekzom dizileme., congenital cataracts, gene mutation, homozygous, Warburg micro syndrome, Whole exome sequencing., Sağlık Bilimleri ve Hizmetleri, Health Care Sciences and Services

وصف الملف: application/pdf

Relation: https://dergipark.org.tr/tr/download/article-file/2084017; https://dergipark.org.tr/tr/pub/mjwbs/issue/72438/1024327

الاتاحة: https://dergipark.org.tr/tr/pub/mjwbs/issue/72438/1024327

المؤلفون: Wu, Qinwei, Sun, Xiaqin, Yue, Weihua, Lu, Tianlan, Ruan, Yanyan, Chen, Tianda, Zhang, Dai

مصطلحات موضوعية: RAB18, Neuronal migration, Warburg Micro syndrome

Relation: http://www.molecularbrain.com/content/9/1/19

الاتاحة: http://www.molecularbrain.com/content/9/1/19

المؤلفون: Park, Anna, Liegel, Ryan P, Ronchetti, Adam, Ebert, Allison D, Geurts, Aron, Sidjanin, Duska J

مصطلحات موضوعية: TBC1D20, Loss-of-function, Zinc-finger nuclease, Blind-sterile, Spermatogenesis, Warburg Micro Syndrome

Relation: http://www.biomedcentral.com/1471-2156/15/135

الاتاحة: http://www.biomedcentral.com/1471-2156/15/135

المؤلفون: Seixas, Elsa, Barros, Mafalda, Seabra, Miguel, Barral, Duarte

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), Centro de Estudos de Doenças Crónicas (CEDOC)

مصطلحات موضوعية: AMPA RECEPTORS, secretion, CHYLOMICRON RETENTION DISEASE, ciliopathies, GRISCELLI-SYNDROME, lysosome-related organelles, small GTPases, membrane trafficking, RETINAL-PIGMENT EPITHELIUM, BARDET-BIEDL-SYNDROME, HERMANSKY-PUDLAK-SYNDROME, WARBURG MICRO SYNDROME, GTPASE-ACTIVATING PROTEIN, LINKED MENTAL-RETARDATION, NUCLEOTIDE EXCHANGE FACTOR, membrane trafficking

Relation: PURE: 293655; researchoutputwizard: 39885; PubMed: 23565987; WOS: 000321434400001; Scopus: 84880131899; http://hdl.handle.net/10362/174791; https://doi.org/10.1111/tra.12072

الاتاحة: http://hdl.handle.net/10362/174791
https://doi.org/10.1111/tra.12072

المؤلفون: Rawan Al khudari, Diana Alasmar, Soubhi Tenawi

المصدر: Oxford Medical Case Reports

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Microcephaly, Case Report, 030204 cardiovascular system & hematology, Microbiology, Microphthalmia, 03 medical and health sciences, 0302 clinical medicine, Warburg Micro syndrome type 1, medicine, whole-exome sequencing, 030212 general & internal medicine, Exome sequencing, Muscular hypotonia, business.industry, medicine.disease, eye diseases, Microcornea, RAB3GAP1, Infectious Diseases, Peripheral neuropathy, Warburg syndrome, Mutation (genetic algorithm), Congenital cataracts, Parasitology, sense organs, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e53867c5a3c6ef5efe69e6651ab1e6eb
https://doi.org/10.1093/omcr/omaa031

المؤلفون: Laraib Malik

المصدر: Academic Journal of Pediatrics & Neonatology. 9

مصطلحات موضوعية: Warburg micro syndrome, Presentation, Psychoanalysis, media_common.quotation_subject, General Medicine, Art, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c080684f827256162e98655de5cd8025
https://doi.org/10.19080/ajpn.2020.09.555816