المؤلفون: Crow, YJ, Chase, DS, Schmidt, JL, Szynkiewicz, M, Forte, GMA, Gornall, HL, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, MS, Abdel-Salam, GM, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, EM, Bahi-Buisson, N, Bailey, KM, Barnerias, C, Barth, M, Battini, R, Beresford, MW, Bernard, G, Bianchi, M, de Villemeur, TB, Blair, EM, Bloom, M, Burlina, AB, Carpanelli, ML, Carvalho, DR, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, KE, Chitayat, DA, Collins, AE, Corcoles, CS, Cordeiro, NJV, Crichiutti, G, Dabydeen, L, Dale, RC, D'Arrigo, S, De Goede, CGEL, De Laet, C, De Waele, LMH, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, MC, Fazzi, E, Ferrie, CD, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, NR, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, L, Khan, N, King, MD, Kirk, EP, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, MJ, Lin, JPSM, Linnankivi, T, Mackay, MT, Marom, DR, Lourenco, CM, McKee, SA, Moroni, I, Morton, JEV, Moutard, ML, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, PJ, Olivieri, I, Ostergaard, JR, Perez-Duenas, B, Prendiville, JS, Ramesh, V, Rasmussen, M, Regal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, KA, Sinha, GP, Soler, D, Spiegel, R, Stodberg, TI, Straussberg, R, Swoboda, KJ, Suri, M, Tacke, U, Tan, TY, Naude, JT, Teik, KW, Thomas, MM, Till, M, Tonduti, D, Valente, EM, Van Coster, RN, van der Knaap, MS, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, GB, Wassmer, E, Webb, HJ, Whitehouse, WP, Whitney, RN, Zaki, MS, Zuberi, SM, Livingston, JH, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S, Rice, GI

المصدر: American journal of medical genetics. Part A. 167(167A):296-312

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:130658997Test

المؤلفون: Bonnet, C, Pellerin, D, Roth, V, Clément, G, Wandzel, M, Lambert, L, Frismand, S, Douarinou, M, Grosset, A, Bekkour, I, Weber, F, Girardier, F, Robin, C, Cacciatore, S, Bronner, M, Pourié, C, Dreumont, N, Puisieux, S, Iruzubieta, P, Dicaire, MJ, Evoy, F, Rioux, MF, Hocquel, A, La Piana, R, Synofzik, M, Houlden, H, Danzi, MC, Zuchner, S, Brais, B, Renaud, M

المصدر: Scientific Reports , 13 (1) , Article 9737. (2023) (In press).

مصطلحات موضوعية: Humans, Canada, Friedreich Ataxia, Spinocerebellar Ataxias, Trinucleotide Repeat Expansion

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10172818/1/s41598-023-36654-8.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10172818Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10172818/1/s41598-023-36654-8.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10172818Test/

المؤلفون: Casali, P. G., Blay, J. Y., Abecassis, N., Bajpai, J., Bauer, S., Biagini, R., Bielack, S., Bonvalot, S., Boukovinas, I., Bovee, J. V.M.G., Boye, K., Brodowicz, T., Buonadonna, A., De Álava, E., Dei Tos, A. P., Del Muro, X. G., Dufresne, A., Eriksson, M., Fedenko, A., Ferraresi, V., Ferrari, A., Frezza, A. M., Gasperoni, S., Gelderblom, H., Gouin, F., Grignani, G., Haas, R., Hassan, A.B., Hindi, N., Hohenberger, P., Joensuu, H., Jones, R. L., Jungels, C., Jutte, P., Kasper, B., Kawai, A., Kopeckova, K., Krákorová, D. A., Le Cesne, A., Le Grange, F., Legius, E., Leithner, A., Lopez-Pousa, A., Martin-Broto, J., Merimsky, O., Messiou, C., Miah, A. B., Mir, O, Montemurro, M, Morosi, C., Palmerini, E., Pantaleo, MA, Piana, R, Piperno-Neumann, S, Reichardt, P, Rutkowski, Piotr, Safwat, AA, Sangalli, C., Sbaraglia, Marta, Schöffski, Patrick, Sleijfer, S., Strauss, D., Strauss, SJ, Sundby Hall, K., Trama, A, Unk, M, van de Sande, M. A.J., van der Graaf, W. T.A., van Houdt, WJ, Frebourg, T, Gronchi, A, Stacchiotti, S

المصدر: Casali , P G , Blay , J Y , ESMO Guidelines Committee, EURACAN and GENTURIS , Abecassis , N , Bajpai , J , Bauer , S , Biagini , R , Bielack , S , Bonvalot , S , Boukovinas , I , Bovee , J V M G , Boye , K , Brodowicz , T , Buonadonna , A , De Álava , E , Dei Tos , A P , Del Muro , X G , Dufresne , A , Eriksson , M , Fedenko , A , Ferraresi , V , Ferrari , ....

العلاقة: https://pure.eur.nl/en/publications/7f525e31-a4c6-4c7b-961c-d46ad2c9fb52Test

الإتاحة: https://doi.org/10.1016/j.annonc.2021.09.005Test
https://pure.eur.nl/en/publications/7f525e31-a4c6-4c7b-961c-d46ad2c9fb52Test
http://www.scopus.com/inward/record.url?scp=85121969676&partnerID=8YFLogxKTest

المؤلفون: Casali, PG, Blay, JY, Abecassis, N, Bajpai, J, Bauer, S, Biagini, R, Bielack, S, Bonvalot, S, Boukovinas, I, Bovee, JVMG, Boye, K, Brodowicz, T, Buonadonna, A, De Alava, E, Dei Tos, AP, Del Muro, XG, Dufresne, A, Eriksson, M, Fedenko, A, Ferraresi, V, Ferrari, A, Frezza, AM, Gasperoni, S, Gelderblom, H, Gouin, F, Grignani, G, Haas, R, Hassan, AB, Hindi, N, Hohenberger, P, Joensuu, H, Jones, RL, Jungels, C, Jutte, P, Kasper, B, Kawai, A, Kopeckova, K, Krakorova, DA, Le Cesne, A, Le Grange, F, Legius, E, Leithner, A, Lopez-Pousa, A, Martin-Broto, J, Merimsky, O, Messiou, C, Miah, AB, Mir, O, Montemurro, M, Morosi, C, Palmerini, E, Pantaleo, MA, Piana, R, Piperno-Neumann, S, Reichardt, P, Rutkowski, P, Safwat, AA, Sangalli, C, Sbaraglia, M, Scheipl, S, Schoffski, P, Sleijfer, S, Strauss, D, Strauss, SJ, Hall, KS, Trama, A, Unk, M, van de Sande, MAJ, van der Graaf, WTA, van Houdt, WJ, Frebourg, T, Gronchi, A, Stacchiotti, S

المصدر: Annals of Oncology , 33 (1) pp. 20-33. (2022)

مصطلحات موضوعية: GIST, clinical practice guidelines, gastrointestinal stromal tumour, surgery, tyrosine kinase inhibitor

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10142481/1/ESMO-EURACAN-GENTURIS-GIST-Manuscript-Resubmission-Clean-TablesFiguresSupplementary.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10142481Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10142481/1/ESMO-EURACAN-GENTURIS-GIST-Manuscript-Resubmission-Clean-TablesFiguresSupplementary.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10142481Test/

المؤلفون: Pelletier F., Perrier S., Cayami F. K., Mirchi A., Saikali S., Tran L. T., Ulrick N., Guerrero K., Rampakakis E., van Spaendonk R. M. L., Naidu S., Pohl D., Gibson W. T., Demos M., Goizet C., Tejera-Martin I., Potic A., Fogel B. L., Brais B., Sylvain M., Sebire G., Lourenco C. M., Bonkowsky J. L., Catsman-Berrevoets C., Pinto P. S., Tirupathi S., Stromme P., de Grauw T., Gieruszczak-Bialek D., Krageloh-Mann I., Mierzewska H., Philippi H., Rankin J., Atik T., Banwell B., Benko W. S., Blaschek A., Bley A., Boltshauser E., Bratkovic D., Brozova K., Cimas I., Clough C., Corenblum B., Dinopoulos A., Dolan G., Faletra F., Fernandez R., Fletcher J., Garcia Garcia M. E., Gasparini P., Gburek-Augustat J., Gonzalez Moron D., Hamati A., Harting I., Hertzberg C., Hill A., Hobson G. M., Innes A. M., Kauffman M., Kirwin S. M., Kluger G., Kolditz P., Kotzaeridou U., La Piana R., Liston E., McClintock W., McEntagart M., McKenzie F., Melancon S., Misbahuddin A., Suri M., Monton F. I., Moutton S., Murphy R. P. J., Nickel M., Onay H., Orcesi S., Ozkinay F., Patzer S., Pedro H., Pekic S., Pineda Marfa M., Pizzino A., Plecko B., Poll-The B. T., Popovic V., Rating D., Rioux M. -F., Rodriguez Espinosa N., Ronan A., Ostergaard J. R., Rossignol E., Sanchez-Carpintero R., Schossig A., Senbil N., Sonderberg Roos L. K., Stevens C. A., Synofzik M., Sztriha L., Tibussek D., Timmann D., Tonduti D., van de Warrenburg B. P., Vazquez-Lopez M., Venkateswaran S., Wasling P., Wassmer E., Webster R. I., Wiegand G., Yoon G., Rotteveel J., Schiffmann R., van der Knaap M. S., Vanderver A., Martos-Moreno G. A., Polychronakos C., Wolf N. I., Bernard G.

المساهمون: Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenco, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Stromme, P., de Grauw, T., Gieruszczak-Bialek, D., Krageloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., Mcclintock, W., Mcentagart, M., Mckenzie, F., Melancon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Ozkinay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. -F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sonderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L.

مصطلحات موضوعية: 4H leukodystrophy, hypogonadotropic hypogonadism, hypomyelination, POLR3-related leukodystrophy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33005949; volume:106; issue:2; firstpage:e660; lastpage:e674; numberofpages:15; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; http://hdl.handle.net/11368/2980250Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097520880; https://academic.oup.com/jcem/article/106/2/e660/5917135Test

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
http://hdl.handle.net/11368/2980250Test
https://academic.oup.com/jcem/article/106/2/e660/5917135Test

المؤلفون: Giordano A., Boffano M., Piana R., Mutani R., Cicolin A.

المساهمون: Giordano A., Boffano M., Piana R., Mutani R., Cicolin A.

مصطلحات موضوعية: Amputation, Body image, Body schema, Cancer, Dream, Dream content, Sarcoma, Self-perception

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34942926; info:eu-repo/semantics/altIdentifier/wos/WOS:000736283300001; volume:11; issue:12; firstpage:1625; lastpage:1638; numberofpages:14; journal:BRAIN SCIENCES; http://hdl.handle.net/2318/1837135Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121744335

الإتاحة: https://doi.org/10.3390/brainsci11121625Test
http://hdl.handle.net/2318/1837135Test

المؤلفون: Gronchi, A, Miah, A B, Dei Tos, A P, Abecassis, N, Bajpai, J, Bauer, S, Biagini, R, Bielack, S, Blay, J Y, Bolle, S, Bonvalot, S, Boukovinas, I, Bovee, J V M G, Boye, K, Brennan, B, Brodowicz, T, Buonadonna, A, De Álava, E, Del Muro, X G, Dufresne, A, Eriksson, M, Fagioli, F, Fedenko, A, Ferraresi, V, Ferrari, A, Frezza, A M, Gasperoni, S, Gelderblom, H, Gouin, F, Grignani, G, Haas, R, Hassan, A B, Hecker-Nolting, S, Hindi, N, Hohenberger, P, Joensuu, H, Jones, R L, Jungels, C, Jutte, P, Kager, L, Kasper, B, Kawai, A, Kopeckova, K, Krákorová, D A, Le Cesne, A, Le Grange, F, Legius, E, Leithner, A, Lopez-Pousa, A, Martin-Broto, J, Merimsky, O, Messiou, C, Mir, O, Montemurro, M, Morland, B, Morosi, C, Palmerini, E, Pantaleo, M A, Piana, R, Piperno-Neumann, S, Reichardt, P, Rutkowski, P, Safwat, A A, Sangalli, C, Sbaraglia, M, Scheipl, S, Schöffski, P, Sleijfer, S, Strauss, D, Strauss, S, Sundby Hall, K, Trama, A, Unk, M, van de Sande, M A J, van der Graaf, W T A, van Houdt, W J, Frebourg, T, Casali, P G, Stacchiotti, S

المساهمون: Gronchi, A, Miah, A B, Dei Tos, A P, Abecassis, N, Bajpai, J, Bauer, S, Biagini, R, Bielack, S, Blay, J Y, Bolle, S, Bonvalot, S, Boukovinas, I, Bovee, J V M G, Boye, K, Brennan, B, Brodowicz, T, Buonadonna, A, De Álava, E, Del Muro, X G, Dufresne, A, Eriksson, M, Fagioli, F, Fedenko, A, Ferraresi, V, Ferrari, A, Frezza, A M, Gasperoni, S, Gelderblom, H, Gouin, F, Grignani, G, Haas, R, Hassan, A B, Hecker-Nolting, S, Hindi, N, Hohenberger, P, Joensuu, H, Jones, R L, Jungels, C, Jutte, P, Kager, L, Kasper, B, Kawai, A, Kopeckova, K, Krákorová, D A, Le Cesne, A, Le Grange, F, Legius, E, Leithner, A, Lopez-Pousa, A, Martin-Broto, J, Merimsky, O, Messiou, C, Mir, O, Montemurro, M, Morland, B, Morosi, C, Palmerini, E, Pantaleo, M A, Piana, R, Piperno-Neumann, S, Reichardt, P, Rutkowski, P, Safwat, A A, Sangalli, C, Sbaraglia, M, Scheipl, S, Schöffski, P, Sleijfer, S, Strauss, D, Strauss, S, Sundby Hall, K, Trama, A, Unk, M, van de Sande, M A J, van der Graaf, W T A, van Houdt, W J, Frebourg, T, Casali, P G, Stacchiotti, S

مصطلحات موضوعية: Clinical Practice Guideline, Desmoid, Retroperitoneal Sarcoma, Sarcoma, Soft tissue sarcoma, Uterine Sarcoma, diagnosi, follow-up, management, treatment

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34303806; firstpage:-; lastpage:-; numberofpages:-; journal:ANNALS OF ONCOLOGY; http://hdl.handle.net/2318/1795615Test

الإتاحة: https://doi.org/10.1016/j.annonc.2021.07.006Test
http://hdl.handle.net/2318/1795615Test

المؤلفون: Cicolin A., Boffano M., Beccuti G., Piana R., Giordano A.

المساهمون: Cicolin A., Boffano M., Beccuti G., Piana R., Giordano A.

مصطلحات موضوعية: Dream content, End of life, Health communication, Memory, Memory consolidation, Oncology, Sleep

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32752165; info:eu-repo/semantics/altIdentifier/wos/WOS:000564101300001; volume:10; issue:8; firstpage:1; lastpage:11; numberofpages:11; journal:BRAIN SCIENCES; http://hdl.handle.net/2318/1763071Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088941338

الإتاحة: https://doi.org/10.3390/brainsci10080505Test
http://hdl.handle.net/2318/1763071Test

المؤلفون: Longo S., Caporali C., Pisoni C., Borghesi A., Perotti G., Tritto G., Olivieri I., La Piana R., Tonduti D., Decio A., Ariaudo G., Spairani S., Naboni C., Gardella B., Spinillo A., Manzoni F., Tinelli C., Stronati M., Orcesi S.

المساهمون: S. Longo, C. Caporali, C. Pisoni, A. Borghesi, G. Perotti, G. Tritto, I. Olivieri, R. La Piana, D. Tonduti, A. Decio, G. Ariaudo, S. Spairani, C. Naboni, B. Gardella, A. Spinillo, F. Manzoni, C. Tinelli, M. Stronati, S. Orcesi

مصطلحات موضوعية: Adult, Cerebral Palsy, Cohort Studie, Developmental Disabilitie, Female, Gestational Age, Human, Infant, Premature, Very Low Birth Weight, Italy, Longitudinal Studie, Male, Neurodevelopmental Disorder, Neurologic Examination, Tertiary Care Centers, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34381139; info:eu-repo/semantics/altIdentifier/wos/WOS:000684343800028; volume:11; issue:1; firstpage:1; lastpage:10; numberofpages:10; journal:SCIENTIFIC REPORTS; https://hdl.handle.net/2434/938713Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85112297935

الإتاحة: https://doi.org/10.1038/s41598-021-95864-0Test
https://hdl.handle.net/2434/938713Test

المؤلفون: Pelletier, F, Perrier, S, Cayami, FK, Mirchi, A, Saikali, S, Tran, LT, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, RML, Naidu, S, Pohl, D, Gibson, WT, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, BL, Brais, B, Sylvain, M, Sébire, G, Lourenço, CM, Bonkowsky, JL, Catsman-Berrevoets, C, Pinto, PS, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, WS, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, ME, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, GM, Innes, AM, Kauffman, M, Kirwin, SM, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, FI, Moutton, S, Murphy, RPJ, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, BT, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, JR, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, LK, Stevens, CA, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, BP, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, RI, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, MS, Vanderver, A, Martos-Moreno, GÁ, Polychronakos, C, Wolf, NI, Bernard, G

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdfTest; Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; et al. Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; Naidu, S; Pohl, D; Gibson, WT; Demos, M; Goizet, C; Tejera-Martin, I; Potic, A; Fogel, BL; Brais, B; Sylvain, M; Sébire, G; Lourenço, CM; Bonkowsky, JL; Catsman-Berrevoets, C; Pinto, PS; Tirupathi, S; Strømme, P; de Grauw, T; Gieruszczak-Bialek, D; Krägeloh-Mann, I; Mierzewska, H; Philippi, H; Rankin, J; Atik, T; Banwell, B; Benko, WS; Blaschek, A; Bley, A; Boltshauser, E; Bratkovic, D; Brozova, K; Cimas, I; Clough, C; Corenblum, B; Dinopoulos, A; Dolan, G; Faletra, F; Fernandez, R; Fletcher, J; Garcia Garcia, ME; Gasparini, P; Gburek-Augustat, J; Gonzalez Moron, D; Hamati, A; Harting, I; Hertzberg, C; Hill, A; Hobson, GM; Innes, AM; Kauffman, M; Kirwin, SM; Kluger, G; Kolditz, P; Kotzaeridou, U; La Piana, R; Liston, E; McClintock, W; McEntagart, M; McKenzie, F; Melançon, S; Misbahuddin, A; Suri, M; Monton, FI; Moutton, S; Murphy, RPJ; Nickel, M; Onay, H; Orcesi, S; Özkınay, F; Patzer, S; Pedro, H; Pekic, S; Pineda Marfa, M; Pizzino, A; Plecko, B; Poll-The, BT; Popovic, V; Rating, D; Rioux, M-F; Rodriguez Espinosa, N; Ronan, A; Ostergaard, JR; Rossignol, E; Sanchez-Carpintero, R; Schossig, A; Senbil, N; Sønderberg Roos, LK; Stevens, CA; Synofzik, M; Sztriha, L; Tibussek, D; Timmann, D; Tonduti, D; van de Warrenburg, BP; Vázquez-López, M; Venkateswaran, S; Wasling, P; Wassmer, E; Webster, RI; Wiegand, G; Yoon, G; Rotteveel, J; Schiffmann, R; van der Knaap, MS; Vanderver, A; Martos-Moreno, GÁ; Polychronakos, C; Wolf, NI; Bernard, G (2021) Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab, 106 (2). e660-e674. ISSN 1945-7197 https://doi.org/10.1210/clinem/dgaa700Test SGUL Authors: McEntagart, Meriel

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
https://openaccess.sgul.ac.uk/id/eprint/113253Test/
https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdfTest