المؤلفون: Hikmat, O, Isohanni, P, Keshavan, N, Ferla, MP, Fassone, E, Abbott, MA, Bellusci, M, Darin, N, Dimmock, D, Ghezzi, D, Houlden, H, Invernizzi, F, Jaman, NBK, Kurian, MA, Morava, E, Naess, K, Ortigoza-Escobar, JD, Parikh, S, Pennisi, A, Barcia, G, Tylleskar, KB, Brackman, D, Wortmann, SB, Taylor, JC, Bindoff, LA, Fellman, V, Rahman, S

المصدر: Annals of clinical and translational neurology. 8(11):2155-2165

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:147892867Test

المؤلفون: Klockner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bonnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, V, Leppig, KA, Lundgren, J, McDonald, MT, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stodberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, MJ, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, SB, Zarate, YA, Moller, RS, Lemke, JR, Platzer, K

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):653-660

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:145338504Test

المؤلفون: Smith, CEL, Laugel-Haushalter, V, Hany, U, Best, S, Taylor, RL, Poulter, JA, Wortmann, SB, Feichtinger, RG, Mayr, JA, Al Bahlani, S, Nikolopoulos, G, Rigby, A, Black, GC, Watson, CM, Mansour, S, Inglehearn, CF, Mighell, AJ, Bloch-Zupan, A, UK Inherited Retinal Disease Consortium, Genomics England Resear

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/116451/11/jmg-2023-109728.full.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/116451/6/PlexinB2%20proof%20paper.pdfTest; Smith, CEL; Laugel-Haushalter, V; Hany, U; Best, S; Taylor, RL; Poulter, JA; Wortmann, SB; Feichtinger, RG; Mayr, JA; Al Bahlani, S; et al. Smith, CEL; Laugel-Haushalter, V; Hany, U; Best, S; Taylor, RL; Poulter, JA; Wortmann, SB; Feichtinger, RG; Mayr, JA; Al Bahlani, S; Nikolopoulos, G; Rigby, A; Black, GC; Watson, CM; Mansour, S; Inglehearn, CF; Mighell, AJ; Bloch-Zupan, A; UK Inherited Retinal Disease Consortium, Genomics England Resear (2024) Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability. J Med Genet. ISSN 1468-6244 https://doi.org/10.1136/jmg-2023-109728Test SGUL Authors: Mansour, Sahar

الإتاحة: https://doi.org/10.1136/jmg-2023-109728Test
https://openaccess.sgul.ac.uk/id/eprint/116451Test/
https://openaccess.sgul.ac.uk/id/eprint/116451/11/jmg-2023-109728.full.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/116451/6/PlexinB2%20proof%20paper.pdfTest

المؤلفون: Maas, RR, Iwanicka-Pronicka, K, Ucar, SK, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Baric, I, Bubshait, DK, Burlina, A, Christodoulou, J, Chung, WK, Colombo, R, Darin, N, Freisinger, P, Silva, MTG, Grunewald, S, Haack, TB, van Hasselt, PM, Hikmat, O, Horster, F, Isohanni, P, Ramzan, K, Kovacs-Nagy, R, Krumina, Z, Martin-Hernandez, E, Mayr, JA, McClean, P, De Meirleir, L, Naess, K, Ngu, LH, Pajdowska, M, Rahman, S, Riordan, G, Riley, L, Roeben, B, Rutsch, F, Santer, R, Schiff, M, Seders, M, Sequeira, S, Sperl, W, Staufner, C, Synofzik, M, Taylor, RW, Trubicka, J, Tsiakas, K, Unal, O, Wassmer, E, Wedatilake, Y, Wolff, T, Prokisch, H, Morava, E, Pronicka, E, Wevers, RA, de Brouwer, AP, Wortmann, SB

المصدر: Annals of neurology. 82(6):1004-1015

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:137244001Test

المؤلفون: Mancuso, M, Lopriore, P, Lamperti, C, Klopstock, T, Rahman, S, Licchetta, L, Kornblum, C, Wortmann, SB, Dollfus, H, Papadopoulou, MT, Arzimanoglou, A, Scarpa, M, Graessner, H, Evangelista, T

المصدر: Journal of Neurology (2023) (In press).

مصطلحات موضوعية: Europe, European Reference Networks, Mitochondrial diseases, Rare diseases, Survey

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10179602/1/s00415-023-12017-1.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10179602Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10179602/1/s00415-023-12017-1.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10179602Test/

المؤلفون: Fasham, J, Huebner, AK, Liebmann, L, Khalaf-Nazzal, R, Maroofian, R, Kryeziu, N, Wortmann, SB, Leslie, JS, Ubeyratna, N, Mancini, GMS, van Slegtenhorst, M, Wilke, M, Haack, TB, Shamseldin, HE, Gleeson, JG, Almuhaizea, M, Dweikat, I, Abu-Libdeh, B, Daana, M, Zaki, MS, Wakeling, MN, McGavin, L, Turnpenny, PD, Alkuraya, FS, Houlden, H, Schlattmann, P, Kaila, K, Crosby, AH, Baple, EL, Hübner, CA

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115896/1/awad235.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115896/6/awad235_supplementary_data.pdfTest; Fasham, J; Huebner, AK; Liebmann, L; Khalaf-Nazzal, R; Maroofian, R; Kryeziu, N; Wortmann, SB; Leslie, JS; Ubeyratna, N; Mancini, GMS; et al. Fasham, J; Huebner, AK; Liebmann, L; Khalaf-Nazzal, R; Maroofian, R; Kryeziu, N; Wortmann, SB; Leslie, JS; Ubeyratna, N; Mancini, GMS; van Slegtenhorst, M; Wilke, M; Haack, TB; Shamseldin, HE; Gleeson, JG; Almuhaizea, M; Dweikat, I; Abu-Libdeh, B; Daana, M; Zaki, MS; Wakeling, MN; McGavin, L; Turnpenny, PD; Alkuraya, FS; Houlden, H; Schlattmann, P; Kaila, K; Crosby, AH; Baple, EL; Hübner, CA (2023) SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. Brain, 146 (11). pp. 4547-4561. ISSN 1460-2156 https://doi.org/10.1093/brain/awad235Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1093/brain/awad235Test
https://openaccess.sgul.ac.uk/id/eprint/115896Test/
https://openaccess.sgul.ac.uk/id/eprint/115896/1/awad235.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115896/6/awad235_supplementary_data.pdfTest

المؤلفون: Klockner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bonnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, VA, Leppig, KA, Lundgren, J, McDonald, MT, McLaughlin, HM, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stodberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, MJ, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, SB, Zarate, YA, Moller, RS, Lemke, JR, Platzer, K

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(7):796-796

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:146229962Test

المؤلفون: Scala, M, Wortmann, SB, Kaya, N, Stellingwerff, MD, Pistorio, A, Glamuzina, E, van Karnebeek, CD, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, TB, Prokisch, H, Aldhalaan, H, Karimiani, EG, Yildiz, Y, Ceylan, AC, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, MB, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, HS, Maqbool, S, Farid, A, Al-Muhaizea, MA, Alshwameen, MO, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, AH, AlRasheed, MM, Colak, D, Alqudairy, H, Khan, S, Lines, MA, Cazorla, MAG, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, MP, Taylor, JC, Alsaif, HS, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, QS, Schmitt-Mechelke, T, Ziegler, A, Issa, MY, Elbendary, HM, Striano, P, Alkuraya, FS, Zaki, MS, Gleeson, JG, Barakat, TS, Bierau, J, van der Knaap, MS, Maroofian, R, Houlden, H

المصدر: Human Mutation (2022) (In press).

مصطلحات موضوعية: congenital microcephaly, developmental and epileptic encephalopathy 35, heart disease, ITPA, ITPase, white matter abnormalities

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10142352Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10142352Test/

المؤلفون: Tucker, EJ, Baker, MJ, Hock, DH, Warren, JT, Jaillard, S, Bell, KM, Sreenivasan, R, Bakhshalizadeh, S, Hanna, CA, Caruana, NJ, Wortmann, SB, Rahman, S, Pitceathly, RDS, Donadieu, J, Alimi, A, Launay, V, Coppo, P, Christin-Maitre, S, Robevska, G, van den Bergen, J, Kline, BL, Ayers, KL, Stewart, PN, Stroud, DA, Stojanovski, D, Sinclair, AH

العلاقة: NHMRC/1140906; NHMRC/2009732; pii: 6694194; Tucker, E. J., Baker, M. J., Hock, D. H., Warren, J. T., Jaillard, S., Bell, K. M., Sreenivasan, R., Bakhshalizadeh, S., Hanna, C. A., Caruana, N. J., Wortmann, S. B., Rahman, S., Pitceathly, R. D. S., Donadieu, J., Alimi, A., Launay, V., Coppo, P., Christin-Maitre, S., Robevska, G. ,. Sinclair, A. H. (2022). Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 107 (12), pp.3328-3340. https://doi.org/10.1210/clinem/dgac528Test.; http://hdl.handle.net/11343/320287Test

الإتاحة: https://doi.org/10.1210/clinem/dgac528Test
http://hdl.handle.net/11343/320287Test

المؤلفون: Guimier, A, Achleitner, MT, de Bellaing, AM, Edwards, M, de Pontual, L, Mittal, K, Dunn, KE, Grove, ME, Tysoe, CJ, Dimartino, C, Cameron, J, Kanthi, A, Shukla, A, van den Broek, F, Chatterjee, D, Alston, CL, Knowles, CV, Brett, L, Till, JA, Homfray, T, French, P, Spentzou, G, Elserafy, NA, Lichkus, KS, Sankaran, BP, Kennedy, HL, George, PM, Kidd, A, Wortmann, SB, Fisk, DG, Koopmann, TT, Rafiq, MA, Merker, JD, Parikh, S, Ahimaz, P, Weintraub, RG, Ma, AS, Turner, C, Ellaway, CJ, Phillips, LK, Thorburn, DR, Chung, WK, Kana, SL, Faye-Petersen, OM, Thompson, ML, Janin, A, McLeod, K, McGowan, R, McFarland, R, Girisha, KM, Morris-Rosendahl, DJ, Hurst, ACE, Turner, CLS, Hamilton, RM, Taylor, RW, Bajolle, F, Gordon, CT, Amiel, J, Mayr, JA, Doudney, K

العلاقة: pii: S1098-3600(21)05430-7; Guimier, A., Achleitner, M. T., de Bellaing, A. M., Edwards, M., de Pontual, L., Mittal, K., Dunn, K. E., Grove, M. E., Tysoe, C. J., Dimartino, C., Cameron, J., Kanthi, A., Shukla, A., van den Broek, F., Chatterjee, D., Alston, C. L., Knowles, C. V., Brett, L., Till, J. A. ,. Doudney, K. (2021). PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. GENETICS IN MEDICINE, 23 (12), pp.2415-2425. https://doi.org/10.1038/s41436-021-01296-6Test.; http://hdl.handle.net/11343/301493Test

الإتاحة: https://doi.org/10.1038/s41436-021-01296-6Test
http://hdl.handle.net/11343/301493Test