نتائج البحث - "Gabriel Chow"

المصدر: Brain
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Rodríguez Cruz, P M, Cossins, J, de Paula Estephan, E, Munell, F, Selby, K, Hirano, M, Maroofin, R, Mehrjardi, M Y V, Chow, G, Carr, A, Manzur, A, Robb, S, Munot, P, Wei Liu, W, Banka, S, Fraser, H, De Goede, C, Zanoteli, E, Conti Reed, U, Sage, A, Gratacos, M, Macaya, A, Dusl, M, Senderek, J, Töpf, A, Hofer, M, Knight, R, Ramdas, S, Jayawant, S, Lochmüller, H, Palace, J & Beeson, D 2019, ' The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations ', Brain : a journal of neurology, vol. 142, no. 6, pp. 1547-1560 . https://doi.org/10.1093/brain/awz107

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Weakness, COL13A1, Adolescent, 3,4-diaminopyridine, Salbutamol, Neuromuscular transmission, Neuromuscular Junction, Muscle Proteins, Collagen Type XIII, Synaptic Transmission, Neuromuscular junction, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, medicine, congenital myasthenic syndromes, Humans, Respiratory function, Child, Muscle, Skeletal, Acetylcholine receptor, Myasthenic Syndromes, Congenital, business.industry, Homozygote, Muscle weakness, Original Articles, Congenital myasthenic syndrome, medicine.disease, Congenital myasthenic syndromes, Hypotonia, 3. Good health, synaptic basal lamina, Synaptic basal lamina, 030104 developmental biology, medicine.anatomical_structure, salbutamol, Mutation, Synapses, Cardiology, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1410d8ce801488eb1b457d121ece19cb
http://europepmc.org/articles/PMC6752227

5

Design of a Soft, Self-Uncoiling Stent for Extended Retention of Drug Delivery in the Small Intestine

المؤلفون: Ryan M. Jones, Sunandita Sarker, Gabriel Chow, Benjamin S. Terry

المصدر: 2021 Design of Medical Devices Conference.

مصطلحات موضوعية: medicine.medical_specialty, medicine.anatomical_structure, business.industry, medicine.medical_treatment, Drug delivery, medicine, Stent, business, Small intestine, Surgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::31e355ffb744550916726d4a62ecffbb
https://doi.org/10.1115/dmd2021-1063

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LBSL

المساهمون: Functional Genomics, Pediatrics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms

المصدر: Neurology. Genetics, 7(2). Lippincott Williams and Wilkins
Neurology: Genetics, 7(2). Lippincott Williams and Wilkins
Stellingwerff, M D, Figuccia, S, Bellacchio, E, Alvarez, K, Castiglioni, C, Topaloglu, P, Stutterd, C A, Erasmus, C E, Sanchez-Valle, A, Lebon, S, Hughes, S, Schmitt-Mechelke, T, Vasco, G, Chow, G, Rahikkala, E, Dallabona, C, Okuma, C, Aiello, C, Goffrini, P, Abbink, T E M, Bertini, E S & Van der Knaap, M S 2021, ' LBSL : Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations ', Neurology. Genetics, vol. 7, no. 2, e559, pp. e559 . https://doi.org/10.1212/NXG.0000000000000559
Neurology. Genetics, 7, 2
Stellingwerff, M D, Figuccia, S, Bellacchio, E, Alvarez, K, Castiglioni, C, Topaloglu, P, Stutterd, C A, Erasmus, C E, Sanchez-Valle, A, Lebon, S, Hughes, S, Schmitt-Mechelke, T, Vasco, G, Chow, G, Rahikkala, E, Dallabona, C, Okuma, C, Aiello, C, Goffrini, P, Abbink, T E M, Bertini, E S & Van der Knaap, M S 2021, ' LBSL : Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations ', Neurology: Genetics, vol. 7, no. 2, pp. e559 . https://doi.org/10.1212/NXG.0000000000000559
Neurology. Genetics, 7

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Microcephaly, business.industry, Leukodystrophy, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], medicine.disease, Compound heterozygosity, Null allele, Leukoencephalopathy, Atrophy, Medicine, Missense mutation, Neurology (clinical), Brainstem, business, Genetics (clinical)