المؤلفون: Grochowski, CM, Bengtsson, JD, Du, H, Gandhi, M, Lun, MY, Mehaffey, MG, Park, K, Höps, W, Benito-Garagorri, E, Hasenfeld, P, Korbel, JO, Mahmoud, M, Paulin, LF, Jhangiani, SN, Muzny, DM, Fatih, JM, Gibbs, RA, Pendleton, M, Harrington, E, Juul, S, Lindstrand, A, Sedlazeck, FJ, Pehlivan, D, Lupski, JR, Carvalho, CMB

المصدر: bioRxiv : the preprint server for biology.

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:237873367Test

المؤلفون: Marafi, D, Fatih, JM, Kaiyrzhanov, R, Ferla, MP, Gijavanekar, C, Al-Maraghi, A, Liu, N, Sites, E, Alsaif, HS, Al-Owain, M, Zakkariah, M, El-Anany, E, Guliyeva, U, Guliyeva, S, Gaba, C, Haseeb, A, Alhashem, AM, Danish, E, Karageorgou, V, Beetz, C, Subhi, AA, Mullegama, SV, Torti, E, Sebastin, M, Breilyn, MS, Duberstein, S, Abdel-Hamid, MS, Mitani, T, Du, H, Rosenfeld, JA, Jhangiani, SN, Coban Akdemir, Z, Gibbs, RA, Taylor, JC, Fakhro, KA, Hunter, JV, Pehlivan, D, Zaki, MS, Gleeson, JG, Maroofian, R, Houlden, H, Posey, JE, Sutton, VR, Alkuraya, FS, Elsea, SH, Lupski, JR

المصدر: Brain , 145 (3) pp. 909-924. (2022)

مصطلحات موضوعية: SLC38A3, biallelic, glutamate transporter, glutamate/GABA-glutamine cycle

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139262/1/awab369.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10139262Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10139262/1/awab369.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10139262Test/

المؤلفون: Dworschak, GC, Punetha, J, Kalanithy, JC, Mingardo, E, Erdem, HB, Akdemir, ZC, Karaca, E, Mitani, T, Marafi, D, Fatih, JM, Jhangiani, SN, Hunter, JV, Dakal, TC, Dhabhai, B, Dabbagh, O, Alsaif, HS, Alkuraya, FS, Maroofian, R, Houlden, H, Efthymiou, S, Dominik, N, Salpietro, V, Sultan, T, Haider, S, Bibi, F, Thiele, H, Hoefele, J, Riedhammer, KM, Wagner, M, Guella, I, Demos, M, Keren, B, Buratti, J, Charles, P, Nava, C, Heron, D, Heide, S, Valkanas, E, Waddell, LB, Jones, KJ, Oates, EC, Cooper, ST, MacArthur, D, Syrbe, S, Ziegler, A, Platzer, K, Okur, V, Chung, WK, O'Shea, SA, Alcalay, R, Fahn, S, Mark, PR, Guerrini, R, Vetro, A, Hudson, B, Schnur, RE, Hoganson, GE, Burton, JE, McEntagart, M, Lindenberg, T, Yilmaz, O, Odermatt, B, Pehlivan, D, Posey, JE, Lupski, JR, Reutter, H

المصدر: Genetics in Medicine (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10129773/1/s41436-021-01196-9.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10129773Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10129773/1/s41436-021-01196-9.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10129773Test/

المؤلفون: Efthymiou, S, Herman, I, Rahman, F, Anwar, N, Maroofian, R, Yip, J, Mitani, T, Calame, DG, Hunter, JV, Sutton, VR, Yilmaz Gulec, E, Duan, R, Fatih, JM, Marafi, D, Pehlivan, D, Jhangiani, SN, Gibbs, RA, Posey, JE, SYNAPS Study Group, Maqbool, S, Lupski, JR, Houlden, H

المصدر: American Journal of Medical Genetics Part A , 185 (7) pp. 2241-2249. (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10127750/1/ajmg.a.62221.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10127750Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10127750/1/ajmg.a.62221.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10127750Test/

المؤلفون: Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Baylor-Hopkins Center for Mendelian Genomics, Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D.

العلاقة: Am J Hum Genet; https://hdl.handle.net/20.500.12645/37689Test

الإتاحة: https://doi.org/20.500.12645/37689Test
https://doi.org/10.1016/j.ajhg.2021.08.009Test
https://hdl.handle.net/20.500.12645/37689Test

المؤلفون: Duan, R, Marafi, D, Xia, ZJ, Ng, BG, Maroofian, R, Sumya, FT, Saad, AK, Du, H, Fatih, JM, Hunter, JV, Elbendary, HM, Baig, SM, Abdullah, U, Ali, Z, Efthymiou, S, Murphy, D, Mitani, T, Withers, MA, Jhangiani, SN, Coban-Akdemir, Z, Calame, DG, Pehlivan, D, Gibbs, RA, Posey, JE, Houlden, H, Lupashin, VV, Zaki, MS, Freeze, HH, Lupski, JR

المصدر: Journal of Inherited Metabolic Disease (2023) (In press).

مصطلحات موضوعية: AOH/ROH analysis, congenital disorders of glycosylation, conserved oligomeric Golgi complex, family-based genomic analysis, retrograde vesicular transport

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10179975Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10179975Test/

المؤلفون: Calame, DG, Herman, I, Maroofian, R, Marshall, AE, Carvalho Donis, K, Fatih, JM, Mitani, T, Du, H, Grochowski, CM, Sousa, S, Gijavanekar, C, Bakhtiari, S, Ito, YA, Rocca, C, Hunter, JV, Sutton, VR, Emrick, LT, Boycott, KM, Lossos, A, Fellig, Y, Prus, E, Kalish, Y, Meiner, V, Suerink, M, Ruivenkamp, C, Muirhead, K, Saadi, NW, Zaki, MS, Bouman, A, Barakat, TS, Skidmore, DL, Osmond, M, Oliveira Silva, T, Murphy, D, Ghayoor Karimiani, E, Jamshidi, Y, Ghanim Jaddoa, A, Tajsharghi, H, Jin, SC, Abbaszadegan, MR, Ebrahimzadeh-Vesal, R, Hosseini, S, Alavi, S, Bahreini, A, Zarean, E, Salehi, MM, Al-Sannaa, NA, Zifarelli, G, Bauer, P, Robson, S, Coban-Akdemir, Z, Travaglini, L, Nicita, F, Jhangiani, SN, Gibbs, RA, Posey, JE, Kruer, MC, Kernohan, KD, Morales Saute, JA, Houlden, H, Vanderver, A, Elsea, SH, Pehlivan, D, Marafi, D, Lupski, JR

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114315/1/Annals%20of%20Neurology%20-%202022%20-%20Calame%20-%20Biallelic%20variants%20in%20the%20ectonucleotidase%20ENTPD1%20cause%20a%20complex%20neurodevelopmental.pdfTest; Calame, DG; Herman, I; Maroofian, R; Marshall, AE; Carvalho Donis, K; Fatih, JM; Mitani, T; Du, H; Grochowski, CM; Sousa, S; et al. Calame, DG; Herman, I; Maroofian, R; Marshall, AE; Carvalho Donis, K; Fatih, JM; Mitani, T; Du, H; Grochowski, CM; Sousa, S; Gijavanekar, C; Bakhtiari, S; Ito, YA; Rocca, C; Hunter, JV; Sutton, VR; Emrick, LT; Boycott, KM; Lossos, A; Fellig, Y; Prus, E; Kalish, Y; Meiner, V; Suerink, M; Ruivenkamp, C; Muirhead, K; Saadi, NW; Zaki, MS; Bouman, A; Barakat, TS; Skidmore, DL; Osmond, M; Oliveira Silva, T; Murphy, D; Ghayoor Karimiani, E; Jamshidi, Y; Ghanim Jaddoa, A; Tajsharghi, H; Jin, SC; Abbaszadegan, MR; Ebrahimzadeh-Vesal, R; Hosseini, S; Alavi, S; Bahreini, A; Zarean, E; Salehi, MM; Al-Sannaa, NA; Zifarelli, G; Bauer, P; Robson, S; Coban-Akdemir, Z; Travaglini, L; Nicita, F; Jhangiani, SN; Gibbs, RA; Posey, JE; Kruer, MC; Kernohan, KD; Morales Saute, JA; Houlden, H; Vanderver, A; Elsea, SH; Pehlivan, D; Marafi, D; Lupski, JR (2022) Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, distinct white matter abnormalities, and spastic paraplegia. Ann Neurol, 92 (2). pp. 304-321. ISSN 1531-8249 https://doi.org/10.1002/ana.26381Test SGUL Authors: Jamshidi, Yalda

الإتاحة: https://doi.org/10.1002/ana.26381Test
https://openaccess.sgul.ac.uk/id/eprint/114315Test/
https://openaccess.sgul.ac.uk/id/eprint/114315/1/Annals%20of%20Neurology%20-%202022%20-%20Calame%20-%20Biallelic%20variants%20in%20the%20ectonucleotidase%20ENTPD1%20cause%20a%20complex%20neurodevelopmental.pdfTest