المؤلفون: Tirupati S, Bamshad MJ, Tolpinrud W, Witherspoon DJ, Zhang Y, Mowry BJ, Thara R, Watkins WS, Padmavati R, Smith H, Nancarrow D, Filippich C, Jorde LB

المصدر: BMC Genetics, Vol 9, Iss 1, p 86 (2008)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.biomedcentral.com/1471-2156/9/86; https://doaj.org/toc/1471-2156

URL الوصول: https://doaj.org/article/324b70ccce904aa39b7f52819990967b

المؤلفون: Newman, EN, Feusier, J, Jacob, SP, Jorde, LB, Hill, HR, Hanson, C, Izawa, K, Leahy, TR, Yamada, M, Rae, W, Hauck, F, Abolhassani, H, Aghamohammadi, A, Hammarstrom, L, Kanegane, H, Slade, C, Roifman, CM, Grimbacher, B, Zimmerman, GA, Bohnsack, JF, Chen, K

المصدر: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 141(2)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137986126

المؤلفون: Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, European Alternating Hemiplegia of Childhood Genetics Consortium, Neri G, Koelewijn S, Kamphorst J, Geilenkirchen M, Pelzer N, Laan L, Haan J, Ferrari M, van den Maagdenberg A, Biobanca e. Registro Clinico per l'Emiplegia Alternante Consortium, Zucca C, Bassi MT, Franchini F, Vavassori R, Giannotta M, Gobbi G, Granata T, Nardocci N, De Grandis E, Veneselli E, Stagnaro M, Vigevano F, European Network for Research on Alternating Hemiplegia for Small, Medium sized Enterpriese Consortium, Oechsler C, Arzimanoglou A, Ninan M, Neville B, Ebinger F, Fons C, Campistol J, Kemlink D, Nevsimalova S, Peeters Scholte C, Casaer P, Sange G, Spiel G, Martinelli Boneschi F, Schyns T, Crawley F, Poncelin D, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein D.B., CASARI , GIORGIO NEVIO

المساهمون: Heinzen, El, Swoboda, Kj, Hitomi, Y, Gurrieri, F, Nicole, S, de Vries, B, Tiziano, Fd, Fontaine, B, Walley, Nm, Heavin, S, Panagiotakaki, E, European Alternating Hemiplegia of Childhood Genetics, Consortium, Neri, G, Koelewijn, S, Kamphorst, J, Geilenkirchen, M, Pelzer, N, Laan, L, Haan, J, Ferrari, M, van den Maagdenberg, A, Biobanca e., Registro Clinico per l'Emiplegia Alternante Consortium, Zucca, C, Bassi, Mt, Franchini, F, Vavassori, R, Giannotta, M, Gobbi, G, Granata, T, Nardocci, N, De Grandis, E, Veneselli, E, Stagnaro, M, Vigevano, F, European Network for Research on Alternating Hemiplegia for, Small, Medium sized Enterpriese, Consortium, Oechsler, C, Arzimanoglou, A, Ninan, M, Neville, B, Ebinger, F, Fons, C, Campistol, J, Kemlink, D, Nevsimalova, S, Peeters Scholte, C, Casaer, P, Casari, GIORGIO NEVIO, Sange, G, Spiel, G, Martinelli Boneschi, F, Schyns, T, Crawley, F, Poncelin, D, Fiori, S, Abiusi, E, Di Pietro, L, Sweney, Mt, Newcomb, Tm, Viollet, L, Huff, C, Jorde, Lb, Reyna, Sp, Murphy, Kj, Shianna, Kv, Gumbs, Ce, Little, L, Silver, K, Ptáček, Lj, Ferrari, Md, Bye, Am, Herkes, Gk, Whitelaw, Cm, Webb, D, Lynch, Bj, Uldall, P, King, Md, Scheffer, Ie, van den Maagdenberg, Am, Sisodiya, Sm, Mikati, Ma, Goldstein, D. B.

المصدر: Nature Genetics, 44(9), 1030
Nature genetics

مصطلحات موضوعية: Nonsynonymous substitution, Genetics, 0303 health sciences, Mutation, Alternating hemiplegia of childhood, Neurological disorder, Biology, Settore MED/03 - GENETICA MEDICA, medicine.disease, medicine.disease_cause, Alternating Hemiplegia, Article, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, ATP1A3, medicine, Etiology, 030217 neurology & neurosurgery, Alternating hemiplegia, Exome sequencing, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5340c120e42b07a60df6c472c9cc43da

المؤلفون: Yu, N, Fu, YX, Sambuughin, N, Ramsay, M, Jenkins, T, Leskinen, E, Patthy, L, Jorde, LB, Kuromori, T, Li, WH

المصدر: MOLECULAR BIOLOGY AND EVOLUTION. 18(2):214-222

مصطلحات موضوعية: MEDICINE, Dermatology and venerology, clinical genetics, internal medicine, Clinical genetics, MEDICIN, Dermatologi och venerologi, klinisk genetik, invärtesmedicin, Klinisk genetik

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-41763

المؤلفون: ZhaoZM, Jin, L, Fu, YX, Ramsay, M, Jenkins, T, Leskinen, E, Pamilo, P, Trexler, M, Patthy, L, Jorde, LB, Ramos-Onsins, S, Yu, N, Li, WH

المصدر: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 97(21):11354-11358

مصطلحات موضوعية: MEDICINE, Dermatology and venerology, clinical genetics, internal medicine, Clinical genetics, MEDICIN, Dermatologi och venerologi, klinisk genetik, invärtesmedicin, Klinisk genetik

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-41760

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