يعرض 1 - 5 نتائج من 5 نتيجة بحث عن '"J H Montoya"', وقت الاستعلام: 1.21s تنقيح النتائج
  1. 1
    CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vitreous: A case report and literature review

    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

    View record from ScienceDirect Full Text via ClinicalKey
    أضف إلى المفضلة
  2. 2
    Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

    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 3

    مصطلحات 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

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a378cf582516dca7504ff713f219f8f
    https://www.mdpi.com/2077-0383/10/3/481

    Find this article in full text from ProQuest
    أضف إلى المفضلة
  3. 3
    [A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)]

    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

    أضف إلى المفضلة
  4. 4
    A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)

    المؤلفون: J H Montoya-Villada, J W Cornejo, M Moncada-Velez, J L Franco-Restrepo, S M Pira-Paredes

    المصدر: Repositorio UdeA
    Universidad de Antioquia
    instacron:Universidad de Antioquia

    مصطلحات 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

    أضف إلى المفضلة
  5. 5
    Bilateral cerebellopontine angle air-CT cisternography

    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

    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS – أرسل هذا البحث بالبريد الإلكتروني – حفظ البحث – جدول التنبيهات: لا شيء