نتائج البحث - "Hans Ulrik, Møller"

1

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

المصدر: Whitman, M C, Barry, B J, Robson, C D, Facio, F M, Van Ryzin, C, Chan, W M, Lehky, T J, Thurm, A, Zalewski, C, King, K A, Brewer, C, Almpani, K, Lee, J S, Delaney, A, FitzGibbon, E J, Lee, P R, Toro, C, Paul, S M, Abdul-Rahman, O A, Webb, B D, Jabs, E W, Moller, H U, Larsen, D A, Antony, J H, Troedson, C, Ma, A, Ragnhild, G, Wirgenes, K V, Tham, E, Kvarnung, M, Maarup, T J, MacKinnon, S, Hunter, D G, Collins, F S, Manoli, I & Engle, E C 2021, ' TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy ', Human Genetics, vol. 140, no. 12, pp. 1709-1731 . https://doi.org/10.1007/s00439-021-02379-9

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Kallmann syndrome, Facial Paralysis, Anterior commissure, Biology, Arginine, Ophthalmoplegia/diagnosis, Young Adult, Ptosis, Tubulin, Hypogonadotropic hypogonadism, Abnormalities, Multiple/genetics, Congenital fibrosis of the extraocular muscles, Genetics, medicine, Humans, Abnormalities, Multiple, Histidine, Child, Facial Paralysis/diagnosis, Peripheral Nervous System Diseases/diagnosis, Genetics (clinical), Ophthalmoplegia, Palsy, Fibrosis/diagnosis, Facial weakness, Infant, Peripheral Nervous System Diseases, Syndrome, medicine.disease, Fibrosis, Peripheral neuropathy, Amino Acid Substitution, Child, Preschool, Mutation, Female, medicine.symptom, Tubulin/genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d00d64dba95ca47cdea707cc3837fb
https://doi.org/10.1007/s00439-021-02379-9

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2

von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance

المصدر: Louise M Binderup, M, Smerdel, M, Borgwadt, L, Beck Nielsen, S S, Madsen, M G, Møller, H U, Kiilgaard, J F, Friis-Hansen, L, Harbud, V, Cortnum, S, Owen, H, Gimsing, S, Friis Juhl, H A, Munthe, S, Geilswijk, M, Rasmussen, Å K, Møldrup, U, Graumann, O, Donskov, F, Grønbæk, H, Stausbøl-Grøn, B, Schaffalitzky de Muckadell, O, Knigge, U, Dam, G, Wadt, K AW, Bøgeskov, L, Bagi, P, Lund, L, Stochholm, K, Ousager, L B & Sunde, L 2022, ' von Hippel-Lindau disease : Updated guideline for diagnosis and surveillance ', European Journal of Medical Genetics, vol. 65, no. 8, 104538 . https://doi.org/10.1016/j.ejmg.2022.104538
Louise M Binderup, M, Smerdel, M, Borgwadt, L, Beck Nielsen, S S, Madsen, M G, Møller, H U, Kiilgaard, J F, Friis-Hansen, L, Harbud, V, Cortnum, S, Owen, H, Gimsing, S, Friis Juhl, H A, Munthe, S, Geilswijk, M, Rasmussen, Å K, Møldrup, U, Graumann, O, Donskov, F, Grønbæk, H, Stausbøl-Grøn, B, Schaffalitzky de Muckadell, O, Knigge, U, Dam, G, Wadt, K A, Bøgeskov, L, Bagi, P, Lund, L, Stochholm, K, Ousager, L B & Sunde, L 2022, ' von Hippel-Lindau disease : Updated guideline for diagnosis and surveillance ', European Journal of Medical Genetics, vol. 65, no. 8, pp. 104538 . https://doi.org/10.1016/j.ejmg.2022.104538

مصطلحات موضوعية: Adult, von Hippel-Lindau Disease, Surveillance, von Hippel-Lindau Disease/diagnosis, Hemangioblastoma/diagnosis, von Hippel-Lindau disease, Pheochromocytoma, General Medicine, Guideline, Kidney Neoplasms, Renal cell carcinoma, Hemangioblastoma, Genetics, Humans, Genetic Predisposition to Disease, Carcinoma, Renal Cell, Kidney Neoplasms/complications, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c2ad16b7558a04650f2d41263b3f461
https://doi.org/10.1016/j.ejmg.2022.104538

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3

[Diagnosis, monitoring and treatment of tuberous sclerosis complex]

المؤلفون: Mark, Reinhard, Lone, Sunde, Mia Gebauer, Madsen, Brian Nauheimer, Andersen, Elisabeth, Bendstrup, Mette, Sommerlund, Hans, Gjørup, Dorte Ancher, Larsen, Hans Ulrik, Møller, Dorte Guldbrand, Nielsen, Ulrik Markus, Mortensen, Mette Møller, Handrup, Niels Kristian Muff, Aagaard, Søren, Cortnum, Dinah Sherzad, Khatir, Michael, Bayat, Gratien, Andersen, Brian, Stausbøl-Grøn, Jakob, Christensen

المصدر: Ugeskrift for laeger. 181(45)

مصطلحات موضوعية: Consensus, Tuberous Sclerosis, Denmark, Humans

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::302844dbe63f625fd3150cd0be30f725
https://pubmed.ncbi.nlm.nih.gov/31791451

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The Corneal Dystrophies—Does the Literature Clarify or Confuse?

المؤلفون: Hans Ulrik Møller, Walter Lisch, Jayne S. Weiss

المصدر: Weiss, J S, Møller, H U & Lisch, W 2018, ' The Corneal Dystrophies-Does the Literature Clarify or Confuse? ', American Journal of Ophthalmology, vol. 195, pp. xv-xvii . https://doi.org/10.1016/j.ajo.2018.07.047

مصطلحات موضوعية: Corneal Dystrophies, Hereditary, medicine.medical_specialty, business.industry, MEDLINE, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, International Classification of Diseases, Terminology as Topic, 030221 ophthalmology & optometry, medicine, Humans, Periodicals as Topic, Intensive care medicine, Medical science, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35c7327fc07efefbe74e7ea7b98dca96
https://doi.org/10.1016/j.ajo.2018.07.047

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5

Is Tadpole Pupil in an Adolescent Girl Caused by Denervation Hypersensitivity?

المؤلفون: Hans Ulrik Møller, Jonas Kjeldbjerg Hansen

المصدر: Hansen, J K & Møller, H U 2017, ' Is Tadpole Pupil in an Adolescent Girl Caused by Denervation Hypersensitivity? ', Neuropediatrics, vol. 48, no. 3, pp. 185-187 . https://doi.org/10.1055/s-0036-1597614

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57df6d5ed3388b060d32396360807a1b
https://doi.org/10.1055/s-0036-1597614

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Retinal hemangioblastoma:prevalence, incidence and frequency of underlying von Hippel-Lindau disease

المؤلفون: Anne-Sophie Stendell, Hans Ulrik Møller, Marie Louise Mølgaard Binderup, Jens Folke Kiilgaard, Michael Galanakis, Marie Luise Bisgaard

المصدر: Binderup, M L M, Stendell, A-S, Galanakis, M, Møller, H U, Kiilgaard, J F & Bisgaard, M L 2018, ' Retinal hemangioblastoma : prevalence, incidence and frequency of underlying von Hippel-Lindau disease ', British Journal of Ophthalmology, vol. 102, no. 7, pp. 942-947 . https://doi.org/10.1136/bjophthalmol-2017-310884

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Pathology, von Hippel-Lindau Disease, Databases, Factual, endocrine system diseases, Denmark, Disease, 030105 genetics & heredity, urologic and male genital diseases, Cohort Studies, 0302 clinical medicine, Hemangioblastoma, Prevalence, Registries, Family history, Child, Aged, 80 and over, Medical record, Incidence (epidemiology), Incidence, Middle Aged, Sensory Systems, female genital diseases and pregnancy complications, Retinal hemangioblastoma, Von Hippel-Lindau Tumor Suppressor Protein, Female, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Retinal Neoplasms, Asymptomatic, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, medicine, Journal Article, Humans, Von Hippel–Lindau disease, neoplasms, Germ-Line Mutation, Aged, business.industry, medicine.disease, Ophthalmology, 030221 ophthalmology & optometry, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::111540ab4bbc0ea0a1364d070e1dbcff
https://pure.au.dk/portal/da/publications/retinal-hemangioblastoma(75327fce-1d0e-415e-b55d-371b599098dc).html

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IC3D Classification of Corneal Dystrophies—Edition 2

المؤلفون: Kanwal K. Nischal, Francis L. Munier, Christopher J. Rapuano, Antoine Labbé, Cecilie Bredrup, Hans Ulrik Møller, Shigeru Kinoshita, Eung Kweon Kim, John E. Sutphin, Massimo Busin, Anthony J. Aldave, Tero Kivelä, Berthold Seitz, Kenneth R. Kenyon, Walter Lisch, Jayne S. Weiss

المصدر: Weiss, J S, Møller, H U, Aldave, A J, Seitz, B, Bredrup, C, Kivelä, T, Munier, F L, Rapuano, C J, Nischal, K K, Kim, E K, Sutphin, J, Busin, M, Labbé, A, Kenyon, K R, Kinoshita, S & Lisch, W 2015, ' IC3D Classification of Corneal Dystrophies—Edition 2 ', Cornea, bind 34, nr. 2, s. 117-159 .

مصطلحات موضوعية: Macular corneal dystrophy, genetic structures, Endothelial dystrophies, Genetic disease, Stroma, Epithelium, Gelatinousdrop-like corneal dystrophy, Cornea, Lisch Epithelial Corneal Dystrophy, Cornea pathology, Posteror polymorphous corneal dystrophy, Corneal Dystrophies, Hereditary, Posterior amorphous corneal dystrophy, Epithelial-stromal TGFBI dystrophies, Fleck corneal dystrophy, Lattice corneal dystrophy, Pre-Descemet corneal dystrophy, Congenital stromal corneal dystrophy, Subepithelialmucinous corneal dystrophy, Schnyder corneal dystrophy, Thiel-Behnke corneal dystrophy, Posterior polymorphous corneal dystrophy, Epithelial and subepithelial dystrophies, Fuchsendothelial corneal dystrophy, Reis-BÃ¼cklers corneal dystrophy, Congenital hereditary endothelial dystrophy, Centralcloudy dystrophy of FranÃ§ois, medicine.medical_specialty, Histology, education, Hereditary disease, Histopathology, Biology, Keratoconus, Lisch epithelial corneal dystrophy, Meesmann dystrophy, NO, Bowman membrane, Descemetmembrane, International Classification of Diseases, Terminology as Topic, Ophthalmology, Genetics, medicine, Humans, Confocal microscopy, Congenital corneal endothelial dystrophy and X-linked endothelialdystrophy, Cornea dystrophy, Endothelium, Epithelial basement membranedystrophy, Epithelial recurrent erosion dystrophies, Granular corneal dystrophy type 1, Granular corneal dystrophy type 2, Stromal dystrophies, TGFBI, medicine.disease, eye diseases, sense organs