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1دورية أكاديمية
المؤلفون: Post, MAA, de Wit, I, Zijlstra, FSM, Engelke, UFH, van Rooij, A, Christodoulou, J, Tan, TY, Le Fevre, A, Jin, D, Yaplito-Lee, J, Lee, BH, Low, KJJ, Mallick, AAA, Ounap, K, Pitt, J, Reardon, W, Vals, M-A, Wortmann, SBB, Wessels, HJCT, Barenfanger, M, van Karnebeek, CDM, Lefeber, DJJ
العلاقة: Post, M. A. A., de Wit, I., Zijlstra, F. S. M., Engelke, U. F. H., van Rooij, A., Christodoulou, J., Tan, T. Y., Le Fevre, A., Jin, D., Yaplito-Lee, J., Lee, B. H., Low, K. J. J., Mallick, A. A. A., Ounap, K., Pitt, J., Reardon, W., Vals, M. -A., Wortmann, S. B. B., Wessels, H. J. C. T. ,. Lefeber, D. J. J. (2023). MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases. JOURNAL OF INHERITED METABOLIC DISEASE, 46 (2), pp.313-325. https://doi.org/10.1002/jimd.12588Test.; http://hdl.handle.net/11343/338342Test
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2دورية أكاديمية
المؤلفون: Snijders Blok, L., Verseput, J., Rots, D., Venselaar, H., Innes, A., Stumpel, C., Õunap, K., Reinson, K., Seaby, E., McKee, S., Burton, B., Kim, K., Van Hagen, J., Waisfisz, Q., Joset, P., Steindl, K., Rauch, A., Li, D., Zackai, E., Sheppard, S., Keena, B., Hakonarson, H., Roos, A., Kohlschmidt, N., Cereda, A., Iascone, M., Rebessi, E., Kernohan, K., Campeau, P., Millan, F., Taylor, J., Lochmüller, H., Higgs, M., Goula, A., Bernhard, B., Velasco, D., Schmanski, A., Stark, Z., Gallacher, L., Pais, L., Marcogliese, P., Yamamoto, S., Raun, N., Jakub, T., Kramer, J., Den Hoed, J., Fisher, S., Brunner, H., Kleefstra, T.
المصدر: Human Genetics and Genomics Advances
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-000B-5C01-DTest; http://hdl.handle.net/21.11116/0000-000B-9C38-7Test
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3دورية أكاديمية
المؤلفون: Carrington, G., Hau, A., Kosta, S., Dugdale, H.F., Muntoni, F., D'Amico, A., Van den Bergh, P., Romero, N.B., Malfatti, E., Vilchez, J.J., Oldfors, A., Pajusalu, S., Õunap, K., Giralt-Pujol, M., Zanoteli, E., Campbell, K.S., Iwamoto, H., Peckham, M., Ochala, J.
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/213624/1/172322.2-20231019160721-covered-e0fd13ba177f913fd3156f593ead4cfd.pdfTest; Carrington, G., Hau, A., Kosta, S. et al. (16 more authors) (2023) Human skeletal myopathy myosin mutations disrupt myosin head sequestration. JCI Insight, 8 (21). e172322. ISSN 2379-3708
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4دورية أكاديمية
المؤلفون: Loberti, L. (Lorenzo), Bruno, L. P. (Lucia Pia), Granata, S. (Stefania), Doddato, G. (Gabriella), Resciniti, S. (Sara), Fava, F. (Francesca), Carullo, M. (Michele), Rahikkala, E. (Elisa), Jouret, G. (Guillaume), Menke, L. A. (Leonie A.), Lederer, D. (Damien), Vrielynck, P. (Pascal), Ryba, L. (Lukáš), Brunetti-Pierri, N. (Nicola), Lasa-Aranzasti, A. (Amaia), Cueto-González, A. M. (Anna Maria), Trujillano, L. (Laura), Valenzuela, I. (Irene), Tizzano, E. F. (Eduardo F.), Spinelli, A. M. (Alessandro Mauro), Bruno, I. (Irene), Currò, A. (Aurora), Stanzial, F. (Franco), Benedicenti, F. (Francesco), Lopergolo, D. (Diego), Santorelli, F. M. (Filippo Maria), Aristidou, C. (Constantia), Tanteles, G. A. (George A.), Maystadt, I. (Isabelle), Tkemaladze, T. (Tinatin), Reimand, T. (Tiia), Lokke, H. (Helen), Õunap, K. (Katrin), Haanpää, M. K. (Maria K.), Holubová, A. (Andrea), Zoubková, V. (Veronika), Schwarz, M. (Martin), Žordania, R. (Riina), Muru, K. (Kai), Roht, L. (Laura), Tihveräinen, A. (Annika), Teek, R. (Rita), Thomson, U. (Ulvi), Atallah, I. (Isis), Superti-Furga, A. (Andrea), Buoni, S. (Sabrina), Canitano, R. (Roberto), Scandurra, V. (Valeria), Rossetti, A. (Annalisa), Grosso, S. (Salvatore), Battini, R. (Roberta), Baldassarri, M. (Margherita), Mencarelli, M. A. (Maria Antonietta), Lo Rizzo, C. (Caterina), Bruttini, M. (Mirella), Mari, F. (Francesca), Ariani, F. (Francesca), Renieri, A. (Alessandra), Pinto, A. M. (Anna Maria)
وصف الملف: application/pdf
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5دورية أكاديمية
المؤلفون: Loberti, L., Bruno, L.P., Granata, S., Doddato, G., Resciniti, S., Fava, F., Carullo, M., Rahikkala, E., Jouret, G., Menke, L.A., Lederer, D., Vrielynck, P., Ryba, L., Brunetti-Pierri, N., Lasa-Aranzasti, A., Cueto-González, A.M., Trujillano, L., Valenzuela, I., Tizzano, E.F., Spinelli, A.M., Bruno, I., Currò, A., Stanzial, F., Benedicenti, F., Lopergolo, D., Santorelli, F.M., Aristidou, C., Tanteles, G.A., Maystadt, I., Tkemaladze, T., Reimand, T., Lokke, H., Õunap, K., Haanpää, M.K., Holubová, A., Zoubková, V., Schwarz, M., Žordania, R., Muru, K., Roht, L., Tihveräinen, A., Teek, R., Thomson, U., Atallah, I., Superti-Furga, A., Buoni, S., Canitano, R., Scandurra, V., Rossetti, A., Grosso, S., Battini, R., Baldassarri, M., Mencarelli, M.A., Rizzo, C.L., Bruttini, M., Mari, F., Ariani, F., Renieri, A., Pinto, A.M.
المصدر: Human molecular genetics, vol. 31, no. 24, pp. 4131-4142
مصطلحات موضوعية: Pregnancy, Female, Humans, Facies, Tooth Abnormalities/genetics, Bone Diseases, Developmental/genetics, Abnormalities, Multiple/genetics, Multiple/diagnosis, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Comparative Genomic Hybridization, Repressor Proteins/genetics, Phenotype, Dwarfism/genetics, European People
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35861666; info:eu-repo/semantics/altIdentifier/eissn/1460-2083; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_CD40BBEC41D30; https://serval.unil.ch/notice/serval:BIB_CD40BBEC41D3Test; urn:issn:0964-6906; https://serval.unil.ch/resource/serval:BIB_CD40BBEC41D3.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CD40BBEC41D30Test
الإتاحة: https://doi.org/10.1093/hmg/ddac167Test
https://serval.unil.ch/notice/serval:BIB_CD40BBEC41D3Test
https://serval.unil.ch/resource/serval:BIB_CD40BBEC41D3.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CD40BBEC41D30Test -
6دورية أكاديمية
المؤلفون: Janssen, B. D. E., van den Boogaard, M. H., Lichtenbelt, K., Seaby, E. G., Stals, K., Ellard, S., Newbury-Ecob, R., Dixit, A., Roht, L., Pajusalu, S., Õunap, K., Firth, H. V., Buckley, M., Wilson, M., Roscioli, T., Tidwell, T., Mao, R., Ennis, S., Holwerda, S. J., van Gassen, K., van Jaarsveld, R. H.
مصطلحات موضوعية: Tfiid, human genetics, mendelian disorders, neurodevelopmental disorder
العلاقة: https://doi.org/10.1002/humu.24444Test; Hum Mutat. 2022 Jul 29. doi:10.1002/humu.24444.; https://rde.dspace-express.com/handle/11287/622579Test; Human mutation
الإتاحة: https://doi.org/10.1002/humu.24444Test
https://rde.dspace-express.com/handle/11287/622579Test -
7دورية أكاديمية
المؤلفون: van Wegberg A. M. J., Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M. S., Maillot F., van Spronsen F. J., Ahring K., Al Mutairi F., Arnoux J. B., Ballhausen D., Baruteau J., Bernstein L., Bijarnia-Mahay S., Boemer F., Bordugo A., Brodosi L., Brooks S., Chew H. B., Chyz K., Coker M., Collingwood C., Cornejo V., Couce M. L., Cozens A., Dahri S., Das A. M., de Laet C., de las Heras Montero J., de Vreugd A., Debray F. G., Dercksen M., Descartes M., Diogo L., Drogari E., Eiroa H., Eminoglu F. T., Enns G. M., Eyskens F., Feillet F., Ford S., Franzson L., Freisinger P., Garcia P., Grafakou O., Gramer G., Gray S., Groselj U., Grunert S. C., Haas D., Handoom B., Harte T. B., Hendriksz C., Heredia R. S., Hertecant J., Hoi-Yee Wu T., Inwood A., Jamuar S. S., Jesina P., Jonsson J. J., Jovanovic A., Kern I., Kilavuz S., Knerr I., Kor D., Korycinska-Chaaban D., Kreile M., Kumru B., Lanpher B., Lapatto R., Lavigne C., Leao-Teles E., Leuzzi V., Longo N., Lopez-Uriarte A., Lubout C. M. A., MacDonald A., Megdad E. M., Mitchell J., Mochel F., Moreno-Lozano P. J., Morris A., Moura de Souza C. F., Munoz T., Nevalainen P. I., Oscarson M., Ounap K., Paci S., Pastores G. M., Pearl P. L., Piazzon F. B., Pitt J., Poon G., Porta F., Presner N., Rabaty A. A., Reinson K., Reismann P., Rink T., Rocha J. C., Rodrigues E., Saini A. G., Sanchez-Valle A., Sander J., Sarkhail P., Schwartz I. V. D., Sharma R., Sheng B., Siriwardena K., Sirrs S., Sjarif D. R., Sondheimer N., Sparkes R., Specola N., Stepien K. M., Szatmari I., Tchan M., Tkemaladze T., Tran C., Valle M. G., Vela-Amieva M., Verdaguer M. L., Vergano S. A., Vermeersch P., Vulturar R., Wagenmakers M. A. E. M., Weinhold N., Williams A. B., Wilson W. G., Zafeiriou D., Zhang H., Ziagaki A., Zolkowska J.
المساهمون: van Wegberg A.M.J., Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M.S., Maillot F., van Spronsen F.J., Ahring K., Al Mutairi F., Arnoux J.B., Ballhausen D., Baruteau J., Bernstein L., Bijarnia-Mahay S., Boemer F., Bordugo A., Brodosi L., Brooks S., Chew H.B., Chyz K., Coker M., Collingwood C., Cornejo V., Couce M.L., Cozens A., Dahri S., Das A.M., de Laet C., de las Heras Montero J., de Vreugd A., Debray F.G., Dercksen M., Descartes M., Diogo L., Drogari E., Eiroa H., Eminoglu F.T., Enns G.M., Eyskens F., Feillet F., Ford S., Franzson L., Freisinger P., Garcia P., Grafakou O., Gramer G., Gray S., Groselj U., Grunert S.C., Haas D., Handoom B., Harte T.B., Hendriksz C., Heredia R.S., Hertecant J., Hoi-Yee Wu T., Inwood A., Jamuar S.S., Jesina P., Jonsson J.J., Jovanovic A., Kern I., Kilavuz S., Knerr I., Kor D., Korycinska-Chaaban D., Kreile M., Kumru B., Lanpher B., Lapatto R., Lavigne C., Leao-Teles E., Leuzzi V., Longo N., Lopez-Uriarte A., Lubout C.M.A., MacDonald A., Megdad E.M., Mitchell J., Mochel F., Moreno-Lozano P.J., Morris A., Moura de Souza C.F., Munoz T., Nevalainen P.I., Oscarson M., Ounap K., Paci S., Pastores G.M., Pearl P.L., Piazzon F.B., Pitt J., Poon G., Porta F., Presner N., Rabaty A.A., Reinson K., Reismann P., Rink T.
مصطلحات موضوعية: immigrant, late diagnosi, NBS, phenylketonuria, refugee
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34474089; info:eu-repo/semantics/altIdentifier/wos/WOS:000719251000042; volume:239; firstpage:231; lastpage:234.e2; numberofpages:6; journal:THE JOURNAL OF PEDIATRICS; https://hdl.handle.net/11585/928082Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118320261; https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext
الإتاحة: https://doi.org/10.1016/j.jpeds.2021.08.070Test
https://hdl.handle.net/11585/928082Test
https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext -
8دورية أكاديمية
المؤلفون: Bryant L., Li D., Cox S. G., Marchione D., Joiner E. F., Wilson K., Janssen K., Lee P., March M. E., Nair D., Sherr E., Fregeau B., Wierenga K. J., Wadley A., Mancini G. M. S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H. P., Powis Z., Cho M. T., Willing M. C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C. B., Retterer K., Schuette J. L., Innis J. W., Pizzino A., Luttgen S., Denecke J., Strom T. M., Monaghan K. G., Yuan Z. -F., Dubbs H., Bend R., Lee J. A., Lyons M. J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K. L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M. H., Ounap K., Ilves P., Innes A. M., Kernohan K. D., Costain G., Meyn M. S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M. G., Martinez-Agosto J. A., Nelson S. F., Palmer C. G. S., Papp J. C., Parker N. H., Sinsheimer J. S., Vilain E., Wan J., Yoon A. J., Zheng A., Brimble E., Ferrero G. B., Radio F. C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J. M., Umana L., Weiss M. M., Gotway G., Stuurman K. E., Thompson M. L., McWalter K., Stumpel C. T. R. M., Stevens S. J. C., Stegmann A. P. A., Tveten K., Vollo A., Prescott T., Fagerberg C., Laulund L. W., Larsen M. J., Byler M., Lebel R. R., Hurst A. C., Schrier Vergano S. A., Norman J., Mercimek-Andrews S., Neira J., Van Allen M. I., Longo N., Sellars E., Louie R. J., Cathey S. S., Brokamp E., Heron D., Snyder M., Vanderver A., Simon C., de la Cruz X., Padilla N., Crump J. G., Chung W., Garcia B., Hakonarson H. H., Bhoj E. J.
المساهمون: Bryant L., Li D., Cox S.G., Marchione D., Joiner E.F., Wilson K., Janssen K., Lee P., March M.E., Nair D., Sherr E., Fregeau B., Wierenga K.J., Wadley A., Mancini G.M.S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H.P., Powis Z., Cho M.T., Willing M.C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C.B., Retterer K., Schuette J.L., Innis J.W., Pizzino A., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap K., Ilves P., Innes A.M., Kernohan K.D., Costain G., Meyn M.S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M.G., Martinez-Agosto J.A., Nelson S.F., Palmer C.G.S., Papp J.C., Parker N.H., Sinsheimer J.S., Vilain E., Wan J., Yoon A.J., Zheng A., Brimble E., Ferrero G.B., Radio F.C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J.M., Umana L., Weiss M.M., Gotway G., Stuurman K.E., Thompson M.L., McWalter K., Stumpel C.T.R.M., Stevens S.J.C.
مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207Test
الإتاحة: https://doi.org/10.1126/sciadv.abc9207Test
http://hdl.handle.net/2318/1764207Test
https://advances.sciencemag.org/content/6/49/eabc9207Test -
9دورية أكاديمية
المؤلفون: Dyment, D. A. (David A.), O'Donnell-Luria, A. (Anne), Agrawal, P. B. (Pankaj B.), Coban Akdemir, Z. (Zeynep), Aleck, K. A. (Kyrieckos A.), Antaki, D. (Danny), Al Sharhan, H. (Hind), Au, P. B. (Ping-Yee B.), Aydin, H. (Hatip), Beggs, A. H. (Alan H.), Bilguvar, K. (Kaya), Boerwinkle, E. (Eric), Brand, H. (Harrison), Brownstein, C. A. (Catherine A.), Buyske, S. (Steve), Chodirker, B. (Bernard), Choi, J. (Jungmin), Chudley, A. E. (Albert E.), Clericuzio, C. L. (Carol L.), Cox, G. F. (Gerald F.), Curry, C. (Cynthia), De Boer, E. (Elke), De Vries, B. B. (Bert B. A.), Dunn, K. (Kathryn), Dutmer, C. M. (Cullen M.), England, E. M. (Eleina M.), Fahrner, J. A. (Jill A.), Geckinli, B. B. (Bilgen B.), Genetti, C. A. (Casie A.), Gezdirici, A. (Alper), Gibson, W. T. (William T.), Gleeson, J. G. (Joseph G.), Greenberg, C. R. (Cheryl R.), Hall, A. (April), Hamosh, A. (Ada), Hartley, T. (Taila), Jhangiani, S. N. (Shalini N.), Karaca, E. (Ender), Kernohan, K. (Kristin), Lauzon, J. L. (Julie L.), Lewis, M. E. (M. E. Suzanne), Lowry, R. B. (R. Brian), López-Giráldez, F. (Francesc), Matise, T. C. (Tara C.), McEvoy-Venneri, J. (Jennifer), McInnes, B. (Brenda), Mhanni, A. (Aziz), Garcia Minaur, S. (Sixto), Moilanen, J. (Jukka), Nguyen, A. (An), Nowaczyk, M. J. (Malgorzata J. M.), Posey, J. E. (Jennifer E.), Õunap, K. (Katrin), Pehlivan, D. (Davut), Pajusalu, S. (Sander), Penney, L. S. (Lynette S.), Poterba, T. (Timothy), Prontera, P. (Paolo), Rodovalho Doriqui, M. J. (Maria Juliana), Sawyer, S. L. (Sarah L.), Sobreira, N. (Nara), Stanley, V. (Valentina), Torun, D. (Deniz), Wargowski, D. (David), Witmer, P. D. (P. Dane), Wong, I. (Isaac), Xing, J. (Jinchuan), Zaki, M. S. (Maha S.), Zhang, Y. (Yeting), C. C. (Care4Rare Consortium), C. F. (Centers For Mendelian Genomics), Boycott, K. M. (Kym M.), Bamshad, M. J. (Michael J.), Nickerson, D. A. (Deborah A.), Blue, E. E. (Elizabeth E.), Innes, A. M. (A. Micheil)
مصطلحات موضوعية: Dubowitz syndrome, exome sequencing, genetic heterogeneity, genome sequencing, microarray
وصف الملف: application/pdf
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10دورية أكاديمية
المؤلفون: Mencacci, NE, Brockmann, MM, Dai, J, Pajusalu, S, Atasu, B, Campos, J, Pino, G, Gonzalez-Latapi, P, Patzke, C, Schwake, M, Tucci, A, Pittman, A, Simon-Sanchez, J, Carvill, GL, Balint, B, Wiethoff, S, Warner, TT, Papandreou, A, Soo, AKS, Rein, R, Kadastik-Eerme, L, Puusepp, S, Reinson, K, Tomberg, T, Hanagasi, H, Gasser, T, Bhatia, KP, Kurian, MA, Lohmann, E, Õunap, K, Rosenmund, C, Südhof, T, Wood, N, Krainc, D, Acuna, C
المصدر: Journal of Clinical Investigation (JCI) , 131 (7) , Article e140625. (2021)
مصطلحات موضوعية: Genetic diseases, Genetics, Movement disorders, Neuroscience, Synapses
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10121820/1/Bhatia_140625.2-20210322152515-covered-e0fd13ba177f913fd3156f593ead4cfd.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10121820Test/
النص الكامل