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المؤلفون: L M, Zuluaga Gómez, S C, Caballero Mojica, G J, Vélez Rengifo, J D, Bravo Acosta, J H, Montoya Villada
المصدر: Archivos de la Sociedad Española de Oftalmología (English Edition). 97:44-47
مصطلحات موضوعية: Vitreous Body, Neurodevelopmental Disorders, Mutation, Microcephaly, Humans, Persistent Hyperplastic Primary Vitreous, General Medicine, Child, beta Catenin
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::133a0a57e67ea679c5622442f3364844
https://doi.org/10.1016/j .oftale.2020.11.018 -
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المؤلفون: S Ünal, J Koeglmeier, M Meissl, H Ayyıldız Civan, J Melek, T Siahanidou, A M Demir, Patrick Gerner, J H Montoya, Duba H-C., Denise Aldrian, A Koutroumpa, Sahar Mansour, Michael W. Hess, Murat Cakir, Georg F. Vogel, Thomas Müller, J Hornova, T K Frey, Aysel Ünlüsoy Aksu, Y Rachman, Ekkehard Sturm, Andreas R. Janecke, G Düker, M Miqdady, Lukas A. Huber, R Lima, Frank M. Ruemmele, Carsten Posovszky, J Hertecant, Holm H. Uhlig, E Ramos Boluda, Stefan Wirth, Raffi Lev-Tzion, C Deppisch, R Lanzersdorfer, Merit M. Tabbers, Simone Kathemann, Yaron Avitzur
المساهمون: Paediatric Gastroenterology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development
المصدر: Journal of Clinical Medicine, Vol 10, Iss 481, p 481 (2021)
Journal of clinical medicine, 10(3):481, 1-15. Multidisciplinary Digital Publishing Institute (MDPI)
Journal of Clinical Medicine
Volume 10
Issue 3مصطلحات موضوعية: Diarrhea, 0301 basic medicine, medicine.medical_specialty, Genetic counseling, Myosin, Medizin, lcsh:Medicine, Disease, Myosins, Gastroenterology, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genotype, lack of protein, Medicine, Enteropathy, ddc:610, tail domain, Lack of protein, Cholestasis, business.industry, Genotype–phenotype correlation, lcsh:R, Progressive familial intrahepatic cholestasis, General Medicine, genotype–phenotype correlation, Tail domain, medicine.disease, congenital diarrheal diseases, Phenotype, PFIC, Cholestase, Transplantation, Durchfall, 030104 developmental biology, Parenteral nutrition, Kontraktile Proteine, MYO5B, enteropathy, YO5B, 030211 gastroenterology & hepatology, progressive familial intrahepatic cholestasis, business, myosin Vbin, DDC 610 / Medicine & health, myosin Vb, microvillus inclusion disease
وصف الملف: application/pdf
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المؤلفون: S M, Pira-Paredes, J H, Montoya-Villada, J L, Franco-Restrepo, M, Moncada-Velez, J W, Cornejo
المصدر: Revista de neurologia. 64(11)
مصطلحات موضوعية: Adult, Male, Adolescent, Foot Deformities, Congenital, Developmental Disabilities, Infant, Newborn, Infant, Syndrome, Colombia, Heart Septal Defects, Atrial, Cornea, Craniofacial Abnormalities, Phenotype, Cranial Fossa, Posterior, Cerebellum, Child, Preschool, Intellectual Disability, Humans, Abnormalities, Multiple, Female, Eye Abnormalities, Child, Dandy-Walker Syndrome, Hand Deformities, Congenital, Retrospective Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::59b0edf8741cfdd5129d4d26d106d861
https://pubmed.ncbi.nlm.nih.gov/28555453 -
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المصدر: Repositorio UdeA
Universidad de Antioquia
instacron:Universidad de Antioquiaمصطلحات موضوعية: Gynecology, medicine.medical_specialty, Heart Diseases, business.industry, General Medicine, Infant newborn, Eye abnormality, Megacisterna magna, Medicine, Neurology (clinical), Cranial fossa, business, Dandy-Walker Syndrome, Cardiopatías, Síndrome de Dandy-Walker
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c65a92013b10d04cc75d7c9241c22d16
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المؤلفون: S H, Lee, E, Lewis, J H, Montoya, J F, Seelaus
المصدر: AJNR Am J Neuroradiol
مصطلحات موضوعية: Air, Journal Article, Humans, Cerebellopontine Angle, Neuroma, Acoustic, Cerebellar Neoplasms, Pneumoencephalography, Tomography, X-Ray Computed
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::da0ce8fde61c76e0a3e0c5f45fe7faaa
https://pubmed.ncbi.nlm.nih.gov/6784545