المؤلفون: Tremblay-Laganiere, C, Maroofian, R, Nguyen, TTM, Karimiani, EG, Kirmani, S, Akbar, F, Ibrahim, S, Afroze, B, Doosti, M, Ashrafzadeh, F, Babaei, M, Efthymiou, S, Christoforou, M, Sultan, T, Ladda, RL, McLaughlin, HM, Truty, R, Mahida, S, Cohen, JS, Baranano, K, Ismail, FY, Patel, MS, Lehman, A, Edmondson, AC, Nagy, A, Walker, MA, Mercimek-Andrews, S, Maki, Y, Sachdev, R, Macintosh, R, Palmer, EE, Mancini, GMS, Barakat, TS, Steinfeld, R, Rusch, CT, Stettner, GM, Wagner, M, Wortmann, SB, Kini, U, Brady, AF, Stals, KL, Ismayilova, N, Ellard, S, Bernardo, D, Nugent, K, McLean, SD, Antonarakis, SE, Houlden, H, Kinoshita, T, Campeau, PM, Murakami, Y

المصدر: Genetics in Medicine , 23 (10) pp. 1873-1881. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10130965/1/Efthymiou_PIGG_Paper_Draft_PC_CTL_TKYM-v2.pdf; https://discovery.ucl.ac.uk/id/eprint/10130965/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10130965/1/Efthymiou_PIGG_Paper_Draft_PC_CTL_TKYM-v2.pdf
https://discovery.ucl.ac.uk/id/eprint/10130965/

المؤلفون: Tremblay-Laganière, C., Maroofian, R., Nguyen, T.T.M., Karimiani, E.G., Kirmani, S., Akbar, F., Ibrahim, S., Afroze, B., Doosti, M., Ashrafzadeh, F., Babaei, M., Efthymiou, S., Christoforou, M., Sultan, T., Ladda, R.L., McLaughlin, H.M., Truty, R., Mahida, S., Cohen, J.S., Baranano, K., Ismail, F.Y., Patel, M.S., Lehman, A., Edmondson, A.C., Nagy, A., Walker, M.A., Mercimek-Andrews, S., Maki, Y., Sachdev, R., Macintosh, R., Palmer, E.E., Mancini, G.M.S., Barakat, T.S., Steinfeld, R., Rüsch, C.T., Stettner, G.M., Wagner, M., Wortmann, S.B., Kini, U., Brady, A.F., Stals, K.L., Ismayilova, N., Ellard, S., Bernardo, D., Nugent, K., McLean, S.D., Antonarakis, S.E., Houlden, H., Kinoshita, T., Campeau, P.M., Murakami, Y.

المصدر: Genet. Med. 23, 1873-1881 (2021)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/34113002; info:eu-repo/semantics/altIdentifier/wos/WOS:000659837100001; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62258; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62258
https://doi.org/10.1038/s41436-021-01215-9

المؤلفون: Manole, A., Efthymiou, S., O'Connor, E., Mendes, M.I., Jennings, M., Maroofian, R., Davagnanam, I., Mankad, K., Lopez, M.R., Salpietro, V., Harripaul, R., Badalato, L., Walia, J., Francklyn, C.S., Athanasiou-Fragkouli, A., Sullivan, R., Desai, S., Baranano, K., Zafar, F., Rana, N., Ilyas, M., Horga, A., Kara, M., Mattioli, F., Goldenberg, A., Griffin, H., Piton, A., Henderson, L.B., Kara, B., Aslanger, A.D., Raaphorst, J., Pfundt, R., Portier, R., Shinawi, M., Kirby, A., Christensen, K.M., Wang, L., Rosti, R.O., Paracha, S.A., Sarwar, M.T., Jenkins, D., Ahmed, J., Santoni, F.A., Ranza, E., Iwaszkiewicz, J., Cytrynbaum, C., Weksberg, R., Wentzensen, I.M., Sacoto, M.J.G., Si, Y., Stevens, Servi, Houlden, Henry H.

المصدر: Manole , A , Efthymiou , S , O'Connor , E , Mendes , M I , Jennings , M , Maroofian , R , Davagnanam , I , Mankad , K , Lopez , M R , Salpietro , V , Harripaul , R , Badalato , L , Walia , J , Francklyn , C S , Athanasiou-Fragkouli , A , Sullivan , R , Desai , S , Baranano , K , Zafar , F , Rana , N , Ilyas , M , Horga , A , Kara , M , Mattioli , F , ....

مصطلحات موضوعية: 2 siblings, expression, mutations, transfer-rna synthetase

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/9399f121-b73d-490e-bdab-47c1fc4da542
https://doi.org/10.1016/j.ajhg.2020.06.016

المؤلفون: Manole, A, Efthymiou, S, O'Connor, E, Mendes, MI, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, MR, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, CS, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, LB, Kara, B, Aslanger, AD, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, KM, Wang, L, Rosti, RO, Paracha, SA, Sarwar, MT, Jenkins, D, SYNAPS Study Group, ., Ahmed, J, Santoni, FA, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, IM, Guillen Sacoto, MJ, Si, Y, Telegrafi, A, Andrews, MV, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, AJM, Stevens, SJC, Bähler, J, Nasar, A, Mantovani, JF, Manzur, A, Sarkozy, A, Smith, DEC, Salomons, GS, Ahmed, ZM, Riazuddin, S, Usmani, MA, Seibt, A, Ansar, M, Antonarakis, SE, Vincent, JB, Ayub, M, Grimmel, M, Jelsig, AM, Hjortshøj, TD, Karstensen, HG, Hummel, M, Haack, TB, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, JG, Becker, H, Mandel, J-L, Koolen, DA, Houlden, H

المصدر: American Journal of Human Genetics , 107 (2) pp. 311-324. (2020)

مصطلحات موضوعية: aminoacyl-tRNA synthetase, developmental delay, epilepsy, neurodevelopment, neuropathy, next generation sequencing

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10107091/7/Houlden_De%20Novo%20and%20Bi-allelic%20Pathogenic%20Variants%20in%20NARS1%20Cause%20Neurodevelopmental%20Delay%20Due%20to%20Toxic%20Gain-of-Function%20and%20Partial%20Loss-of-Function%20Effects_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10107091/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10107091/7/Houlden_De%20Novo%20and%20Bi-allelic%20Pathogenic%20Variants%20in%20NARS1%20Cause%20Neurodevelopmental%20Delay%20Due%20to%20Toxic%20Gain-of-Function%20and%20Partial%20Loss-of-Function%20Effects_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10107091/

المؤلفون: Thi, TMN, Murakami, Y, Mobilio, S, Niceta, M, Zampino, G, Philippe, C, Moutton, S, Zaki, MS, James, KN, Musaev, D, Mu, W, Baranano, K, Nance, JR, Rosenfeld, JA, Braverman, N, Ciolfi, A, Millan, F, Person, RE, Bruel, A-L, Thauvin-Robinet, C, Ververi, A, DeVile, C, Male, A, Efthymiou, S, Maroofian, R, Houlden, H, Maqbool, S, Rahman, F, Baratang, N, Rousseau, J, St-Denis, A, Elrick, MJ, Anselm, I, Rodan, LH, Tartaglia, M, Gleeson, J, Kinoshita, T, Campeau, PM

المصدر: The American Journal of Human Genetics , 106 (4) pp. 484-495. (2020)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, MUTATIONS, LEGUMAIN

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10107076/3/Houlden_PIGKmanuscript_Jan22.pdf; https://discovery.ucl.ac.uk/id/eprint/10107076/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10107076/3/Houlden_PIGKmanuscript_Jan22.pdf
https://discovery.ucl.ac.uk/id/eprint/10107076/

المؤلفون: Krzyzewska, I. M., Maas, S. M., Henneman, P., Lip, K. v d, Venema, A., Baranano, K., Chassevent, A., Aref-Eshghi, E., van Essen, A. J., Fukuda, T., Ikeda, H., Jacquemont, M., Kim, H-G, Labalme, A., Lewis, S. M. E., Lesca, G., Madrigal, Gloria, Mahida, S., Matsumoto, N., Rabionet, R., Rajcan-Separovic, E., Qiao, Y., Sadikovic, B., Saitsu, H., Sweetser, D. A., Alders, M., Mannens, M. M. A. M.

المصدر: Krzyzewska , I M , Maas , S M , Henneman , P , Lip , K V D , Venema , A , Baranano , K , Chassevent , A , Aref-Eshghi , E , van Essen , A J , Fukuda , T , Ikeda , H , Jacquemont , M , Kim , H-G , Labalme , A , Lewis , S M E , Lesca , G , Madrigal , G , Mahida , S , Matsumoto , N , Rabionet , R , Rajcan-Separovic , E , Qiao , Y , Sadikovic , B ....

مصطلحات موضوعية: BECKWITH-WIEDEMANN SYNDROME, INTELLECTUAL DISABILITY, MICRODELETION, 12Q24.31, DIAGNOSIS, VARIANTS, LINKING, SETD1B

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/8dbc4257-97ca-43e9-a954-365b34738250
https://research.rug.nl/en/publications/8dbc4257-97ca-43e9-a954-365b34738250
https://doi.org/10.1186/s13148-019-0749-3
https://pure.rug.nl/ws/files/109925654/s13148_019_0749_3.pdf

المؤلفون: Deshwar, A. R., Cytrynbaum, C., Murthy, H., Zon, J., Chitayat, D., Volpatti, J., Newbury-Ecob, R., Ellard, S., Lango Allen, H., Yu, E. P., Noche, R., Walker, S., Scherer, S. W., Mahida, S., Elitt, C. M., Nicolas, G., Goldenberg, A., Saugier-Veber, P., Lecoquierre, F., Dabaj, I., Meddaugh, H., Marble, M., Keppler-Noreuil, K. M., Drayson, L., Barañano, K. W., Chassevent, A., Agre, K., Létard, P., Bilan, F., Le Guyader, G., Laquerrière, A., Ramsey, K., Henderson, L., Brady, L., Tarnopolsky, M., Bainbridge, M., Friedman, J., Capri, Y., Athayde, L., Kok, F., Gurgel-Giannetti, J., Ramos, L. L. P., Blaser, S., Dowling, J. J., Weksberg, R.

مصطلحات موضوعية: Cldn5, blood brain barrier, brain calcifications

Relation: Brain. 2022 Dec 8:awac461. doi:10.1093/brain/awac461.; Brain : a journal of neurology; https://hdl.handle.net/11287/622792

الاتاحة: https://hdl.handle.net/11287/622792
https://doi.org/10.1093/brain/awac461

المؤلفون: Crow Y. J., Marshall H., Rice G. I., Seabra L., Jenkinson E. M., Baranano K., Battini R., Berger A., Blair E., Blauwblomme T., Bolduc F., Boddaert N., Buckard J., Burnett H., Calvert S., Caumes R., Ng A. C. -H., Chiang D., Clifford D. B., Cordelli D. M., de Burca A., Demic N., Desguerre I., De Waele L., Di Fonzo A., Dunham S. R., Dyack S., Elmslie F., Ferrand M., Fisher G., Karimiani E. G., Ghoumid J., Gibbon F., Goel H., Hilmarsen H. T., Hughes I., Jacob A., Jones E. A., Kumar R., Leventer R. J., MacDonald S., Maroofian R., Mehta S. G., Metz I., Monfrini E., Neumann D., Noetzel M., O'Driscoll M., Ounap K., Panzer A., Parikh S., Prabhakar P., Ramond F., Sandford R., Saneto R., Soh C., Stutterd C. A., Subramanian G. M., Talbot K., Thomas R. H., Toro C., Touraine R., Wakeling E., Wassmer E., Whitney A., Livingston J. H., O'Keefe R. T., Badrock A. P.

المساهمون: Crow, Y. J., Marshall, H., Rice, G. I., Seabra, L., Jenkinson, E. M., Baranano, K., Battini, R., Berger, A., Blair, E., Blauwblomme, T., Bolduc, F., Boddaert, N., Buckard, J., Burnett, H., Calvert, S., Caumes, R., Ng, A. C. -H., Chiang, D., Clifford, D. B., Cordelli, D. M., de Burca, A., Demic, N., Desguerre, I., De Waele, L., Di Fonzo, A., Dunham, S. R., Dyack, S., Elmslie, F., Ferrand, M., Fisher, G., Karimiani, E. G., Ghoumid, J., Gibbon, F., Goel, H., Hilmarsen, H. T., Hughes, I., Jacob, A., Jones, E. A., Kumar, R., Leventer, R. J., Macdonald, S., Maroofian, R., Mehta, S. G., Metz, I., Monfrini, E., Neumann, D., Noetzel, M., O'Driscoll, M., Ounap, K., Panzer, A., Parikh, S., Prabhakar, P., Ramond, F., Sandford, R., Saneto, R., Soh, C., Stutterd, C. A., Subramanian, G. M., Talbot, K., Thomas, R. H., Toro, C., Touraine, R., Wakeling, E., Wassmer, E., Whitney, A., Livingston, J. H., O'Keefe, R. T., Badrock, A. P.

مصطلحات موضوعية: C/D box snoRNA U8, coats plu, Labrune syndrome, leukoencephalopathy with calcifications and cyst, ribosomopathy, SNORD118

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/33029936; info:eu-repo/semantics/altIdentifier/wos/WOS:000575817400001; volume:185; issue:1; firstpage:15; lastpage:25; numberofpages:11; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11568/1070985; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85092167921

الاتاحة: https://hdl.handle.net/11568/1070985
https://doi.org/10.1002/ajmg.a.61907
https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.61907

المؤلفون: Woerden, G.M. van, Bos, M., Konink, C. de, Distel, B., Trezza, R. Avagliano, Shur, N.E., Barañano, K., Mahida, S., Chassevent, A., Schreiber, A., Erwin, A.L., Gripp, K.W., Rehman, F., Brulleman, S., McCormack, R., Geus, G. de, Kalsner, L., Sorlin, A., Bruel, A.L., Koolen, D.A., Gabriel, M.K., Rossi, M., Fitzpatrick, D.R., Wilkie, A.O.M., Calpena, E., Johnson, D., Brooks, A., Slegtenhorst, M. van, Fleischer, J., Groepper, D., Lindstrom, K., Innes, A. Micheil, Goodwin, A., Humberson, J., Noyes, A., Langley, K.G., Telegrafi, A., Blevins, A., Hoffman, J., Sacoto, M.J. Guillen, Juusola, J., Monaghan, K.G., Punj, S., Simon, M., Pfundt, R.P., Elgersma, Y., Kleefstra, T.

المصدر: Human Mutation, 42, 4, pp. 445-459

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/245113/245113.pdf; https://repository.ubn.ru.nl/handle/2066/245113; https://doi.org/10.1002/humu.24176

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/245113/245113.pdf
https://repository.ubn.ru.nl/handle/2066/245113
https://doi.org/10.1002/humu.24176

المؤلفون: Crow, YJ, Marshall, H, Rice, G, Seabra, L, Jenkinson, EM, Baranano, K, Battini, R, Berger, A, Blair, E, Blauwblomme, T, Bolduc, F, Boddaert, N, Buckard, J, Burnett, H, Calvert, S, Caumes, R, Ng, AC-H, Chiang, D, Clifford, DB, Cordelli, DM, Burca, A, Demic, N, Desguerre, I, De Waele, L, Di Fonzo, A, Dunham, SR, Dyack, S, Elmslie, F, Ferrand, M, Fisher, G, Karimiani, EG, Ghoumid, J, Gibbon, F, Goel, H, Hilmarsen, HT, Hughes, I, Jacob, A, Jones, EA, Kumar, R, Leventer, RJ, MacDonald, S, Maroofian, R, Mehta, SG, Metz, I, Monfrini, E, Neumann, D, Noetzel, M, O'Driscoll, M, Ounap, K, Panzer, A, Parikh, S, Prabhakar, P, Ramond, F, Sandford, R, Saneto, R, Soh, C, Stutterd, CA, Subramanian, GM, Talbot, K, Thomas, RH, Toro, C, Touraine, R, Wakeling, E, Wassmer, E, Whitney, A, Livingston, JH, O'Keefe, RT, Badrock, AP

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/276417

المؤلفون: Asselin, L., Alvarez, J., Heide, S. van der, Bonnet, C.S., Tilly, P., Vitet, H., Weber, C., Bacino, C.A., Baranaño, K., Chassevent, A., Dameron, A., Faivre, L., Hanchard, N.A., Mahida, S., K., M., Mignot, C., Nava, C., Rastetter, A., Streff, H., Thauvin-Robinet, C., Weiss, M.M., Zapata, G., Zwijnenburg, P.J., F., S., Depienne, C., Golzio, C., Héron, D., Godin, J.D.

المصدر: Nature Communications, 11, 1, pp. 1-18

مصطلحات موضوعية: Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/220453/220453.pdf; https://hdl.handle.net/2066/220453; https://doi.org/10.1038/s41467-020-16294-6

الاتاحة: https://hdl.handle.net/2066/220453
https://repository.ubn.ru.nl//bitstream/handle/2066/220453/220453.pdf
https://doi.org/10.1038/s41467-020-16294-6

المؤلفون: Crow, YJ, Marshall, H, Rice, G, Seabra, L, Jenkinson, EM, Baranano, K, Battini, R, Berger, A, Blair, E, Blauwblomme, T, Bolduc, F, Boddaert, N, Buckard, J, Burnett, H, Calvert, S, Caumes, R, Ng, AC-H, Chiang, D, Clifford, DB, Cordelli, DM, Burca, A, Demic, N, Desguerre, I, De Waele, L, Di Fonzo, A, Dunham, SR, Dyack, S, Elmslie, F, Ferrand, M, Fisher, G, Karimiani, EG, Ghoumid, J, Gibbon, F, Goel, H, Hilmarsen, HT, Hughes, I, Jacob, A, Jones, EA, Kumar, R, Leventer, RJ, MacDonald, S, Maroofian, R, Mehta, SG, Metz, I, Monfrini, E, Neumann, D, Noetzel, M, O'Driscoll, M, Ounap, K, Panzer, A, Parikh, S, Prabhakar, P, Ramond, F, Sandford, R, Saneto, R, Soh, C, Stutterd, CA, Subramanian, GM, Talbot, K, Thomas, RH, Toro, C, Touraine, R, Wakeling, E, Wassmer, E, Whitney, A, Livingston, JH, O'Keefe, RT, Badrock, AP

Relation: Crow, Y. J., Marshall, H., Rice, G., Seabra, L., Jenkinson, E. M., Baranano, K., Battini, R., Berger, A., Blair, E., Blauwblomme, T., Bolduc, F., Boddaert, N., Buckard, J., Burnett, H., Calvert, S., Caumes, R., Ng, A. C. -H., Chiang, D., Clifford, D. B. ,. Badrock, A. P. (2020). Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 185 (1), pp.15-25. https://doi.org/10.1002/ajmg.a.61907.; http://hdl.handle.net/11343/276417

الاتاحة: http://hdl.handle.net/11343/276417

المؤلفون: Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng AC-H, Chiang D, Clifford DB, Cordelli DM, de Burca A, Demic N, Desguerre I, De Waele L, Di Fonzo A, Dunham SR, Dyack S, Elmslie F, Ferrand M, Fisher G, Karimiani EG, Ghoumid J, Gibbon F, Goel H, Hilmarsen HT, Hughes I, Jacob A, Jones EA, Kumar R, Leventer RJ, MacDonald S, Maroofian R, Mehta SG, Metz I, Monfrini E, Neumann D, Noetzel M, O'Driscoll M, Ounap K, Panzer A, Parikh S, Prabhakar P, Ramond F, Sandford R, Saneto R, Soh C, Stutterd CA, Subramanian GM, Talbot K, Thomas RH, Toro C, Touraine R, Wakeling E, Wassmer E, Whitney A, Livingston JH, O'Keefe RT, Badrock AP

المصدر: American Journal of Medical Genetics, Part A, 2020

Relation: https://eprints.ncl.ac.uk/271253

الاتاحة: https://eprints.ncl.ac.uk/271253

المؤلفون: Nguyen, T. T. M., Murakami, Y., Mobilio, S., Niceta, M., Zampino, Giuseppe, Philippe, C., Moutton, S., Zaki, M. S., James, K. N., Musaev, D., Mu, W., Baranano, K., Nance, J. R., Rosenfeld, J. A., Braverman, N., Ciolfi, A., Millan, F., Person, R. E., Bruel, A. -L., Thauvin-Robinet, C., Ververi, A., Devile, C., Male, A., Efthymiou, S., Maroofian, R., Houlden, H., Maqbool, S., Rahman, F., Baratang, N. V., Rousseau, J., St-Denis, A., Elrick, M. J., Anselm, I., Rodan, L. H., Tartaglia, M., Gleeson, J., Kinoshita, T., Campeau, P. M., Zampino G. (ORCID:0000-0003-3865-3253)

مصطلحات الفهرس: glycosylphosphatidylinositol (GPI), GPI8, inherited GPI deficiency disorders (IGDs), PIGK, transamidase, Abnormalities, Multiple, Acyltransferases, Alleles, Cell Adhesion Molecules, Cerebellar Diseases, Epilepsy, Female, Genetic Variation, Humans, Intellectual Disability, Male, Muscle Hypotonia, Nervous System Malformations, Neurodevelopmental Disorders, Pedigree, Syndrome, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/166628
info:eu-repo/semantics/altIdentifier/pmid/32220290
info:eu-repo/semantics/altIdentifier/wos/WOS:000523306000006
volume:106
issue:4
firstpage:484
lastpage:495
numberofpages:12
issueyear:2020
journal:AMERICAN JOURNAL OF HUMAN GENETICS

المؤلفون: Kline, A. D., Krantz, I. D., Bando, M., Shirahige, K., Chea, S., Sakata, T., Rao, S., Dorsett, D., Singh, V. P., Gerton, J. L., Horsfield, J. A., Calof, A. L., Katz, O., Grados, M., Raible, S., Baranano, K., Lyon, G., Musio, A., Carrico, C. S., Clemens, D. K., Caudill, P., Massa, V., McGill, B. E., Dommestrup, A., O'Connor, J., Haaland, R. E.

مصطلحات موضوعية: bioinformatics, DNA, RNA structure, function, modification, genetics & nucleic acid processing, genomics and proteomics, gene expression, genes, structure and function, mutations

Relation: Kline, A. D., Krantz, I. D., Bando, M., Shirahige, K., Chea, S., Sakata, T., Rao, S., Dorsett, D., Singh, V. P., Gerton, J. L., Horsfield, J. A., Calof, A. L., Katz, O., Grados, M., Raible, S., Baranano, K., Lyon, G., Musio, A., Carrico, C. S., Clemens, D. K., Caudill, P., Massa, V., McGill, B. E., Dommestrup, A., O'Connor, J., Haaland, R. E. (March 2019) Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018. Am J Med Genet A, 179 (6). pp. 1080-1090. ISSN 1552-4825

الاتاحة: https://repository.cshl.edu/id/eprint/37756/
https://www.ncbi.nlm.nih.gov/pubmed/30874362
https://doi.org/10.1002/ajmg.a.61108

المؤلفون: Fregeau, B., Kim, B.J., Hernandez-Garcia, A., Jordan, V.K., Cho, M.T., Schnur, R.E., Monaghan, K.G., Juusola, J., Rosenfeld, J.A., Bhoj, E., Zackai, E.H., Sacharow, S., Baranano, K., Bosch, D.G.M., Vries, B.B.A. de, Lindstrom, K., Schroeder, A., James, P., Kulch, P., Lalani, S.R., Haelst, M.M. van, Gassen, K.L. van, Binsbergen, E. van, Barkovich, A.J., Scott, D.A., Sherr, E.H.

المصدر: American Journal of Human Genetics, 98, 5, pp. 963-70

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: http://hdl.handle.net/2066/167702; http://dx.doi.org/10.1016/j.ajhg.2016.03.002

الاتاحة: http://hdl.handle.net/2066/167702
https://doi.org/10.1016/j.ajhg.2016.03.002

المؤلفون: Kulkarni, K. S., Baranano, K. W., Lin, D. D. M., Raymond, G. V.

المصدر: Neuropediatrics ; volume 42, issue 01, page 32-34 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0031-1275729
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0031-1275729.pdf

المؤلفون: Calvin Soh, Sophie Calvert, Ram L. Kumar, Isabelle Desguerre, Kevin Talbot, Evangeline Wassmer, Axel Panzer, Andrea Berger, Anna de Burca, Anu Jacob, Andrea Whitney, Andrew P. Badrock, Frances Gibbon, Shelley MacDonald, Rhys H. Thomas, Reza Maroofian, Heather Burnett, Elizabeth Jones, Thomas Blauwblomme, Francois V. Bolduc, Jamal Ghoumid, Mickaël Ferrand, Yanick J. Crow, Emma M. Jenkinson, Camilo Toro, Diana Chiang, Roseline Caumes, Gillian I. Rice, Gemma Fisher, Gopinath M. Subramanian, Edoardo Monfrini, Renaud Touraine, Hilde T. Hilmarsen, Sarju G. Mehta, Imelda Hughes, Sumit Parikh, Edward Blair, Mary O'Driscoll, Sarah Dyack, Himanshu Goel, Kristin W. Barañano, Prab Prabhakar, Luis Seabra, Roberta Battini, John H. Livingston, Russell P. Saneto, Richard J. Leventer, Katrin Õunap, Heather Marshall, Andy Cheuk Him Ng, Duccio Maria Cordelli, Natasha Demic, Daniela Neumann, Natalie Boddaert, Michael J. Noetzel, S. Richard Dunham, Ehsan Ghayoor Karimiani, Johannes A. Buckard, Frances Elmslie, Raymond T. O'Keefe, Chloe A Stutterd, Richard Sandford, Imke Metz, Francis Ramond, Liesbeth De Waele, Alessio Di Fonzo, Emma Wakeling, David B. Clifford

المساهمون: Crow Y.J., Marshall H., Rice G.I., Seabra L., Jenkinson E.M., Baranano K., Battini R., Berger A., Blair E., Blauwblomme T., Bolduc F., Boddaert N., Buckard J., Burnett H., Calvert S., Caumes R., Ng A.C.-H., Chiang D., Clifford D.B., Cordelli D.M., de Burca A., Demic N., Desguerre I., De Waele L., Di Fonzo A., Dunham S.R., Dyack S., Elmslie F., Ferrand M., Fisher G., Karimiani E.G., Ghoumid J., Gibbon F., Goel H., Hilmarsen H.T., Hughes I., Jacob A., Jones E.A., Kumar R., Leventer R.J., MacDonald S., Maroofian R., Mehta S.G., Metz I., Monfrini E., Neumann D., Noetzel M., O'Driscoll M., Ounap K., Panzer A., Parikh S., Prabhakar P., Ramond F., Sandford R., Saneto R., Soh C., Stutterd C.A., Subramanian G.M., Talbot K., Thomas R.H., Toro C., Touraine R., Wakeling E., Wassmer E., Whitney A., Livingston J.H., O'Keefe R.T., Badrock A.P.

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, 030105 genetics & heredity, Gene mutation, ribosomopathy, Compound heterozygosity, Genetic analysis, Loss of heterozygosity, Leukoencephalopathy, Consanguinity, Leukoencephalopathies, Pathology, Molecular, Child, Zebrafish, Genetics (clinical), Genetics, Molecular pathology, C/D box snoRNA U8, coats plus, Labrune syndrome, leukoencephalopathy with calcifications and cysts, SNORD118, Calcinosis, Middle Aged, 3. Good health, Child, Preschool, Female, Adult, Heterozygote, Adolescent, coats plu, Biology, Young Adult, 03 medical and health sciences, medicine, Animals, Humans, RNA, Small Nucleolar, Genetic Association Studies, Aged, leukoencephalopathy with calcifications and cyst, Infant, Newborn, Infant, medicine.disease, Disease Models, Animal, 030104 developmental biology

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2d9de564df3de6329454df9c446972
http://hdl.handle.net/11585/786787

المؤلفون: Zampino G.

المساهمون: Nguyen, T. T. M., Murakami, Y., Mobilio, S., Niceta, M., Zampino, Giuseppe, Philippe, C., Moutton, S., Zaki, M. S., James, K. N., Musaev, D., Mu, W., Baranano, K., Nance, J. R., Rosenfeld, J. A., Braverman, N., Ciolfi, A., Millan, F., Person, R. E., Bruel, A. -L., Thauvin-Robinet, C., Ververi, A., Devile, C., Male, A., Efthymiou, S., Maroofian, R., Houlden, H., Maqbool, S., Rahman, F., Baratang, N. V., Rousseau, J., St-Denis, A., Elrick, M. J., Anselm, I., Rodan, L. H., Tartaglia, M., Gleeson, J., Kinoshita, T., Campeau, P. M.

مصطلحات موضوعية: glycosylphosphatidylinositol (GPI), GPI8, inherited GPI deficiency disorders (IGDs), PIGK, transamidase, Abnormalities, Multiple, Acyltransferases, Alleles, Cell Adhesion Molecules, Cerebellar Diseases, Epilepsy, Female, Genetic Variation, Humans, Intellectual Disability, Male, Muscle Hypotonia, Nervous System Malformations, Neurodevelopmental Disorders, Pedigree, Syndrome, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/32220290; info:eu-repo/semantics/altIdentifier/wos/WOS:000523306000006; volume:106; issue:4; firstpage:484; lastpage:495; numberofpages:12; issueyear:2020; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/10807/166628; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082423695

الاتاحة: http://hdl.handle.net/10807/166628
https://doi.org/10.1016/j.ajhg.2020.03.001