المؤلفون: Ana Luísa Moura, Ângela Gaspar, Luís Miguel Borrego

المصدر: Acta Médica Portuguesa, Vol 37, Iss 2 (2024)

مصطلحات موضوعية: Angioedemas, Hereditary/complications, Complement C1 Inactivator Proteins, Pregnancy Complications, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/20458; https://doaj.org/toc/0870-399X; https://doaj.org/toc/1646-0758

URL الوصول: https://doaj.org/article/73cd52d47bbd4a67b13841e38fc2714e

المساهمون: Yuri Seo, Hyun Taek Lim, Byung Joo Lee, Jinu Han, Seo, Yuri

مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities / genetics, Adolescent, Humans, Male, Metalloendopeptidases / genetics, Mutation, Optic Atrophy* / diagnosis, Optic Atrophy* / genetics, Optic Atrophy* / pathology, Optic Atrophy, Autosomal Dominant, Paraplegia / genetics, Phenotype, Spastic Paraplegia, Hereditary* / complications, Hereditary* / diagnosis, Hereditary* / genetics, SPG7, autosomal dominant optic atrophy, infantile nystagmus syndrome

Relation: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; J00091; OAK-2023-00601; OAK-2023-00602; https://ir.ymlib.yonsei.ac.kr/handle/22282913/194059; T202301866; AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Vol.191(2) : 582-585, 2023-02

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/194059
https://doi.org/10.1002/ajmg.a.63037
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63037

المؤلفون: Rock, Nathalie M, Demaret, Tanguy, Stéphenne, Xavier, Scheers, Isabelle, Smets, Francoise, McLin, Valérie A, Boschi, Antonella, Sokal, Etienne M

المصدر: Journal of Pediatric Gastroenterology and Nutrition, 71 (5), 655-662 (2020)

مصطلحات موضوعية: Child, Humans, Alagille Syndrome/complications, Alagille Syndrome/diagnosis, Eye Diseases, Hereditary/complications, Eye Diseases, Hereditary/diagnosis, Intracranial Hypertension/complications, Intracranial Hypertension/diagnosis, Optic Nerve Diseases, Papilledema/etiology, Alagille Syndrome, Eye Diseases, Hereditary, Intracranial Hypertension, Papilledema, Pediatrics, Perinatology and Child Health, Gastroenterology, Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie

Relation: https://journals.lww.com/10.1097/MPG.0000000000002883; urn:issn:0277-2116; urn:issn:1536-4801

URL الوصول: https://orbi.uliege.be/handle/2268/291350

المؤلفون: Höltzermann, Mette, Livbjerg, Astrid Helene, Eidhammer, Anya Sook

المصدر: Ugeskrift for Laeger. 179(16):1404

المؤلفون: Godoy, Flavia Ribeiro Monteiro de, Qahtani, Elham Al, Lyons, Christopher J.

المصدر: Revista Brasileira de Oftalmologia. October 2016 75(5)

مصطلحات موضوعية: Corneal dystrophy, hereditary/etiology, Retinal diseases/etiology, Lens diseases/etiology, Nephritis, hereditary/complications, Hematuria

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802016000500396

المساهمون: Jung J.-W., Suh D.I., Park H.J., Kim S., Kwon H. S., Yang M. S., Park C.S., Kim J.-H., Kim S.-H., Lee Y.W., Hur G.Y., Ye Y.-M., Kwon Y.E., Park H.-K., Kim C.W., Koh Y.-I., Park J.W., Lee J.-M., Min K.-U., Wickner P., Kang H.-R., Park, Hye Jung

مصطلحات موضوعية: Adult, Angioedemas, Hereditary/complications, Hereditary/diagnosis, Hereditary/drug therapy, Danazol/therapeutic use, Delayed Diagnosis, Female, Humans, Male, Middle Aged, Republic of Korea, Retrospective Studies, Angioedema, Complement C1s esterase inhibitor proteins, Hereditary angioedema types I and II, Koreans, Mortality

Relation: INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY; J01074; OAK-2018-10253; https://ir.ymlib.yonsei.ac.kr/handle/22282913/167160; https://www.karger.com/Article/FullText/488350; T201805362; INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY, Vol.176(3~4) : 272-279, 2018

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/167160
https://doi.org/10.1159/000488350
https://www.karger.com/Article/FullText/488350

المؤلفون: Santiago - Cabán, Luis, Cruz, Cristóbal, Izquierdo, Natalio J.

المصدر: Revista Brasileira de Oftalmologia. December 2008 67(6)

مصطلحات موضوعية: Nephritis, hereditary/complications, Nephritis, hereditary/diagnosis, Leiomyomatosis/diagnosis, Cataract/etiology, Cataract extraction, Eye manifestations

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802008000600008

المؤلفون: Igami, Thais Z., Lavezzo, Marcelo M., Ferraz, Daniel A., Takahashi, Walter Y., Nakashima, Yoshitaka

المصدر: Arquivos Brasileiros de Oftalmologia. August 2012 75(4)

مصطلحات موضوعية: Nephritis, hereditary/complications, Macula lutea/abnormalities, Retinal dystrophies, Retinal diseases/diagnosis, Optical coherence tomography/instrumentation

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492012000400014

المؤلفون: Moura, Ana Luísa, Gaspar, Ângela, Borrego, Luís Miguel

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), Comprehensive Health Research Centre (CHRC) - pólo NMS, RUN

مصطلحات موضوعية: Angioedemas, Complement C1 Inactivator Proteins, Hereditary/complications, Pregnancy Complications, Medicine(all)

وصف الملف: application/pdf

Relation: 1646-0758; PURE: 83423560

الاتاحة: http://hdl.handle.net/10362/163549

المؤلفون: Sachdeva, Ashwin

المصدر: Sachdeva , A 2021 , ' SDH-deficient renal cell carcinoma: a clinicopathological analysis highlighting the role of genetic counselling. ' , Annals of the Royal College of Surgeons of England , vol. 103 , no. 1 , pp. E20-E22 . https://doi.org/10.1308/rcsann.2020.0196

مصطلحات موضوعية: Adult, Carcinoma, Renal Cell/diagnosis, Female, Genetic Counseling, Germ-Line Mutation, Humans, Kidney Neoplasms/diagnosis, Kidney/diagnostic imaging, Neoplastic Syndromes, Hereditary/complications, Nephrectomy, Paraganglioma/diagnosis, Succinate Dehydrogenase/deficiency, Tomography, X-Ray Computed, ResearchInstitutes_Networks_Beacons/mcrc, Manchester Cancer Research Centre

الاتاحة: https://research.manchester.ac.uk/en/publications/d91a92cc-9620-42f2-9b20-aa59e854985a
https://doi.org/10.1308/rcsann.2020.0196
http://www.scopus.com/inward/record.url?scp=85099325184&partnerID=8YFLogxK

المساهمون: Tae-im Kim, Jin Pyo Hong, Byung Jin Ha, R Doyle Stulting, Eung Kweon Kim, Kim, Eung Kweon, Kim, Tae Im

مصطلحات موضوعية: Adult, Aged, Corneal Dystrophies, Hereditary/complications, Hereditary/genetics, Hereditary/pathology, Hereditary/surgery, Corneal Opacity/etiology, Corneal Opacity/pathology, Corneal Opacity/surgery, Corneal Transplantation/methods, Female, Fourier Analysis, Heterozygote, Homozygote, Humans, Lasers, Excimer/therapeutic use, Male, Middle Aged, Patient Selection, Photorefractive Keratectomy, Recurrence, Reoperation/methods, Tomography, Optical Coherence/methods, Treatment Outcome

وصف الملف: 341~345

Relation: BRITISH JOURNAL OF OPHTHALMOLOGY; J00412; OAK-2010-00293; https://ir.ymlib.yonsei.ac.kr/handle/22282913/100693; http://bjo.bmj.com/content/94/3/341; T201000539; BRITISH JOURNAL OF OPHTHALMOLOGY, Vol.94(3) : 341-345, 2010

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/100693
https://doi.org/10.1136/bjo.2009.164525
http://bjo.bmj.com/content/94/3/341

المساهمون: IN SEOK MOON, MI-YOUNG BANG, DAE BO SHIM, SEUNG-HO SHIN, JAE YOUNG CHOI, Moon, In Seok, Shim, Dae Bo, Choi, Jae Young

مصطلحات موضوعية: Adolescent, Adult, Audiometry, Child, Female, Hearing, Hearing Loss, Sensorineural/etiology, Sensorineural/physiopathology, Humans, Kidney/physiopathology, Male, Nephritis, Hereditary/complications, Hereditary/physiopathology, Retrospective Studies, Sex Factors, Young Adult, Alport's syndrome, otoacoustic emission

وصف الملف: 982~987

Relation: ACTA OTO-LARYNGOLOGICA; J00028; OAK-2009-02044; https://ir.ymlib.yonsei.ac.kr/handle/22282913/105384; T200903794; ACTA OTO-LARYNGOLOGICA, Vol.129(9) : 982-987, 2009

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/105384
https://doi.org/10.1080/00016480802545588
http://informahealthcare.com/doi/abs/10.1080/00016480802545588

المساهمون: Suk Y. Kang, Mee H. Lee, Seung K. Lee, Young H. Sohn, Sohn, Young Ho, Lee, Seung Koo

مصطلحات موضوعية: Adolescent, Antiparkinson Agents/therapeutic use, Benztropine/therapeutic use, Cognition Disorders/etiology, Cognition Disorders/physiopathology, Corpus Callosum/pathology, Electroencephalography, Female, Gait Disorders, Neurologic/etiology, Neurologic/physiopathology, Humans, Levodopa/therapeutic use, Magnetic Resonance Imaging, Male, Muscle Weakness/etiology, Muscle Weakness/physiopathology, Neuropsychological Tests, Parkinson Disease/drug therapy, Parkinson Disease/etiology, Selegiline/therapeutic use, Spastic Paraplegia, Hereditary/complications, Hereditary/pathology, Tremor/etiology, Tremor/physiopathology, Corpus callosum, Parkinsonism, Heredity, Levodopa

وصف الملف: 425~427

Relation: PARKINSONISM & RELATED DISORDERS; J02468; OAK-2004-01801; https://ir.ymlib.yonsei.ac.kr/handle/22282913/111710; http://www.sciencedirect.com/science/article/pii/S1353802004000884; T200404243; PARKINSONISM & RELATED DISORDERS, Vol.10(7) : 425-427, 2004

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/111710
https://doi.org/10.1016/j.parkreldis.2004.05.003
http://www.sciencedirect.com/science/article/pii/S1353802004000884

المؤلفون: Munier, F.L., Daruich, A.

المصدر: Ophthalmic surgery, lasers & imaging retina, vol. 50, no. 2, pp. e49-e51

مصطلحات موضوعية: Adolescent, Eye Diseases, Hereditary/complications, Hereditary/genetics, Familial Exudative Vitreoretinopathies, Humans, Low Density Lipoprotein Receptor-Related Protein-5/genetics, Male, Mutation, Retinal Diseases/complications, Retinal Diseases/genetics, Retinal Perforations/etiology

Relation: info:eu-repo/semantics/altIdentifier/pmid/30768230; info:eu-repo/semantics/altIdentifier/eissn/2325-8179; https://serval.unil.ch/notice/serval:BIB_B323A8256E77

الاتاحة: https://serval.unil.ch/notice/serval:BIB_B323A8256E77
https://doi.org/10.3928/23258160-20190129-19

المؤلفون: Toft, Anders, Birk, Steffen, Ballegaard, Martin, Dunø, Morten, Hjermind, Lena E, Nielsen, Jørgen E, Svenstrup, Kirsten

المصدر: Toft , A , Birk , S , Ballegaard , M , Dunø , M , Hjermind , L E , Nielsen , J E & Svenstrup , K 2019 , ' Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants ' , Journal of Neurology , vol. 266 , no. 3 , pp. 735-744 . https://doi.org/10.1007/s00415-019-09196-1

مصطلحات موضوعية: Adolescent, Adult, Carpal Tunnel Syndrome/etiology, Child, Female, Humans, Male, Membrane Transport Proteins/genetics, Middle Aged, Neural Conduction/physiology, Pedigree, Phenotype, Polyneuropathies/etiology, Spastic Paraplegia, Hereditary/complications, Young Adult

الاتاحة: https://curis.ku.dk/portal/da/publications/peripheral-neuropathy-in-hereditary-spastic-paraplegia-caused-by-reep1-variants(5aec8354-5c88-4c5d-b794-49be1186e34c).html
https://doi.org/10.1007/s00415-019-09196-1

المؤلفون: Miguel, Andreia, Alves, Maria José, Massa, Ana Catarina

مصطلحات موضوعية: Anemia Hemolítica/etiologia, Complicações na Gravidez, Esferocitose Hereditária/complicações, Hipertensão Portal/complicações, Anemia, Hemolytic/etiology, Hypertension, Portal/complications, Pregnancy Complications, Spherocytosis, Hereditary/complications

وصف الملف: application/pdf

Relation: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/18871; https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/18871/15039

الاتاحة: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/18871

المؤلفون: Godoy,Flavia Ribeiro Monteiro de, Qahtani,Elham Al, Lyons,Christopher J.

المصدر: Revista Brasileira de Oftalmologia v.75 n.5 2016
Revista Brasileira de Oftalmologia
Sociedade Brasileira de Oftalmologia (SBO)
instacron:SBO

مصطلحات موضوعية: hereditary/etiology, sense organs, Lens diseases/etiology, urologic and male genital diseases, Nephritis, hereditary/complications, female genital diseases and pregnancy complications, eye diseases, Corneal dystrophy, Retinal diseases/etiology, Hematuria

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3056::8ef5e9a6d27fd9a83447154653c0d1b5
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802016000500396

المؤلفون: Jelsig, A M, Tørring, P M, Kjeldsen, A D, Qvist, N, Bojesen, A, Jensen, U B, Andersen, M K, Gerdes, A M, Brusgaard, K, Ousager, L B

المصدر: Jelsig, A M, Tørring, P M, Kjeldsen, A D, Qvist, N, Bojesen, A, Jensen, U B, Andersen, M K, Gerdes, A M, Brusgaard, K & Ousager, L B 2016, ' JP-HHT phenotype in Danish patients with SMAD4 mutations ', Clinical Genetics, vol. 90, no. 1, pp. 55-62 . https://doi.org/10.1111/cge.12693

مصطلحات موضوعية: Osler–Rendu disease, Male, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, Adolescent, epistaxis, Denmark, Gene Expression, Telangiectasia, Hereditary Hemorrhagic/complications, melena, otorhinolaryngologic diseases, hereditary hemorrhagic telangiectasia, Humans, Registries, Intestinal Polyposis/complications, Retrospective Studies, Aged, Smad4 protein, Middle Aged, Neoplastic Syndromes, Hereditary/complications, digestive system diseases, Smad4-related juvenile polyposis, juvenile polyposis syndrome, Phenotype, Aorta/metabolism, Mutation, Smad4 Protein/genetics, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3062::ffdc86b12d36fe9f5ca05d6c66bfbd83
https://portal.findresearcher.sdu.dk/da/publications/e36b77cd-aa89-41e8-8182-d865a814543e

المؤلفون: Kurkus, Jan, Nykvist, Marie, Lindergård, Birger, Segelmark, Mårten

المصدر: American Journal of Kidney Diseases. 49(3):471-476

مصطلحات موضوعية: Renal Dialysis: history, Kidney Failure: therapy, Kidney Failure: etiology, Humans, 20th Century, Female, Aged, Nephritis, Middle Aged, Kidney Transplantation, Hereditary: complications, Pyelonephritis: therapy, History, Sweden, Renal Dialysis: methods, Medicin och hälsovetenskap, Klinisk medicin, Urologi och njurmedicin, Medical and Health Sciences, Clinical Medicine, Urology and Nephrology

URL الوصول: https://lup.lub.lu.se/record/166843
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17336709&dopt=Abstract
http://dx.doi.org/10.1053/j.ajkd.2007.01.022

المؤلفون: Dina Ruano, J. T. Wijnen, Brendy E.W.M. van den Akker, Melanie Schrumpf, Fadwa A. Elsayed, C. Marleen Kets, Frederik J. Hes, Maartje Nielsen, Tom van Wezel, Marjolijn J. L. Ligtenberg, Hans Morreau, Carli M. J. Tops, Hans F. A. Vasen, Arjen R. Mensenkamp

المساهمون: Clinical sciences, Medical Genetics

المصدر: European Journal of Human Genetics, 23, 8, pp. 1080-4
European Journal of Human Genetics, 23(8), 1080-1084
European Journal of Human Genetics, 23, 1080-4

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Biology, DNA Mismatch Repair, Germline, Article, Germline mutation, Neoplastic Syndromes, Hereditary, Molecular genetics, Genetics, medicine, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Humans, DNA Polymerase II/genetics, Poly-ADP-Ribose Binding Proteins, Genetics (clinical), DNA Polymerase III/genetics, Germ-Line Mutation, DNA Polymerase III, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], POLD1, Brain Neoplasms, DNA Polymerase II, Neoplastic Syndromes, Hereditary/complications, Middle Aged, medicine.disease, Lynch syndrome, digestive system diseases, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], MSH6, DNA-Binding Proteins, MutS Homolog 2 Protein, Colorectal Neoplasms/complications, MSH2, Brain Neoplasms/complications, DNA mismatch repair, Female, Colorectal Neoplasms, DNA-Binding Proteins/genetics, MutS Homolog 2 Protein/genetics, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2105b5907c6fc0fe17d881e3a789e9c3
https://doi.org/10.1038/ejhg.2014.242