المؤلفون: Asaranti Kar, Shreya Rath, Pallavi Bhuya, Sasmita Panda, Tushar Kar, Lity Mohanty, Lilabati Guru

المصدر: Indian Journal of Neonatal Medicine and Research, Vol 12, Iss 01, Pp 01-07 (2024)

مصطلحات موضوعية: cytogenetics, down syndrome, dysmorphology, meckel gruber syndrome, neural tube defects, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.ijnmr.net/articles/PDF/2403/65084_CETest[Ra1]_F(SHU)_QC_Ref(AN_SHU)_PF1(RI_SHU)_PFA(SHU)_PB(RI_SHU)_PN(SHU).pdf; https://doaj.org/toc/2277-8527Test; https://doaj.org/toc/2455-6890Test

الوصول الحر: https://doaj.org/article/664295279a6047308d9fdcc6472725c5Test

المؤلفون: Moreno-Leon, Laura, Quezada-Ramirez, Marco A, Bilsbury, Evan, Kiss, Courtney, Guerin, Andrea, Khanna, Hemant

المساهمون: Ophthalmology and Visual Sciences, T.H. Chan School of Medicine, Evan Bilsbury

المصدر: Frontiers in genetics ; 13 ; 982127 ; Switzerland

مصطلحات موضوعية: RPGRIP1L, cilia, ciliary defects, ciliopathies, meckel-gruber syndrome

العلاقة: Frontiers in Genetics; https://doi.org/10.3389/fgene.2022.982127Test; Moreno-Leon L, Quezada-Ramirez MA, Bilsbury E, Kiss C, Guerin A, Khanna H. Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome. Front Genet. 2022 Aug 19;13:982127. doi:10.3389/fgene.2022.982127. PMID: 36061204; PMCID: PMC9437271.; http://hdl.handle.net/20.500.14038/52113Test

الإتاحة: https://doi.org/10.3389/fgene.2022.982127Test
https://doi.org/20.500.14038/52113Test
https://hdl.handle.net/20.500.14038/52113Test

المؤلفون: Laura Moreno-Leon, Marco A. Quezada-Ramirez, Evan Bilsbury, Courtney Kiss, Andrea Guerin, Hemant Khanna

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: cilia, ciliopathies, RPGRIP1L, meckel-gruber syndrome, ciliary defects, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.982127/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/a37b587c367a462683911b5338081a1fTest

المؤلفون: Meadows, Benjamin Roland Alexander

المساهمون: Dawe, Helen

مصطلحات موضوعية: 616.07, cell biology, Meckel-Gruber syndrome, Meckel syndrome, MKS, tmem67, tmem216, cell adhesion, extracellular matrix

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.723957Test

المؤلفون: Malika Leneuve‐Dorilas, Patrick Ahounkeng Nanda, Jean‐Luc Deshayes

المصدر: Clinical Case Reports, Vol 8, Iss 3, Pp 433-436 (2020)

مصطلحات موضوعية: Differential diagnosis, Genetic screening, Meckel‐Gruber syndrome, Prenatal diagnosis, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/f469a243c66e42c99515dc1f87a048e5Test

المؤلفون: Ahmed Al-Imam

المصدر: Asian Journal of Medical Sciences, Vol 9, Iss 5, Pp 81-86 (2018)

مصطلحات موضوعية: ciliopathies, meckel-gruber syndrome, dysencephalia splanchnocystica, digital epidemiology, retrospective studies, Medicine

وصف الملف: electronic resource

العلاقة: https://www.nepjol.info/index.php/AJMS/article/view/20496Test; https://doaj.org/toc/2467-9100Test; https://doaj.org/toc/2091-0576Test

الوصول الحر: https://doaj.org/article/abda69a888f6483f8972879a666d49f3Test

المؤلفون: B. Ouafidi , O. Wajih, F. Elmiski , H. Kiram, M. Jalal , A. Lamrissi, K. Fichtali and S. Bouhya

مصطلحات موضوعية: Meckel Gruber Syndrome Encephalocele Polydactyly Polycystic Kidney Disease

العلاقة: https://zenodo.org/record/5323203Test; https://doi.org/10.5281/zenodo.5323203Test; oai:zenodo.org:5323203

الإتاحة: https://doi.org/10.5281/zenodo.5323203Test
https://doi.org/10.5281/zenodo.5323202Test
https://zenodo.org/record/5323203Test

المؤلفون: Agnieszka Stembalska, Małgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Rafal Ploski, Robert Smigiel

المصدر: Genes; Volume 12; Issue 7; Pages: 1078

مصطلحات موضوعية: TMEM67 gene, prenatal and postnatal diagnosis, genetic and phenotypic diagnosis, Joubert syndrome, Meckel–Gruber syndrome

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12071078Test

الإتاحة: https://doi.org/10.3390/genes12071078Test

المؤلفون: Vamshi Krishna, MBBS, Nishith Govil, MBBS, M.D, Vijay Adabala, MBBS, M.D, Jitender Chaturvedi, MBBS, MCH

المصدر: Archives of Anesthesia and Critical Care, Vol 6, Iss 3 (2020)

مصطلحات موضوعية: Meckel Gruber syndrome, Encephalocele, Airway, Anesthesiology, RD78.3-87.3, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

وصف الملف: electronic resource

العلاقة: https://aacc.tums.ac.ir/index.php/aacc/article/view/274Test; https://doaj.org/toc/2423-5849Test

الوصول الحر: https://doaj.org/article/d68773fb8be949078515566dda4048efTest

المؤلفون: Shim, Joon W., Territo, Paul R., Simpson, Stefanie, Watson, John C., Jiang, Lei, Riley, Amanda A., McCarthy, Brian, Persohn, Scott, Fulkerson, Daniel, Blazer-Yost, Bonnie L.

المساهمون: Biology, School of Science

المصدر: PMC

مصطلحات موضوعية: Transmembrane protein 67 (TMEM67), Renal cystic disease, Meckel Gruber Syndrome type 3 (MKS3), Mutant rats

وصف الملف: application/pdf

العلاقة: Scientific Reports; Shim, J. W., Territo, P. R., Simpson, S., Watson, J. C., Jiang, L., Riley, A. A., … Blazer-Yost, B. L. (2019). Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation. Scientific reports, 9(1), 1069. doi:10.1038/s41598-018-37620-5; https://hdl.handle.net/1805/20006Test

الإتاحة: https://doi.org/10.1038/s41598-018-37620-5Test
https://hdl.handle.net/1805/20006Test