المؤلفون: Wilson, WC, Hornig-Do, HT, Bruni, F, Chang, JH, Jourdain, AA, Martinou, JC, Falkenberg, M, Spahr, H, Larsson, NG, Lewis, RJ, Hewitt, L, Basle, A, Cross, HE, Tong, L, Lebel, RR, Crosby, AH, Chrzanowska-Lightowlers, ZMA, Lightowlers, RN

المصدر: Human molecular genetics. 23(23):6345-6355

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:130357100Test

المؤلفون: Jeffries, AR, Maroofian, R, Salter, CG, Chioza, BA, Cross, HE, Patton, MA, Dempster, E, Temple, IK, Mackay, DJG, Rezwan, FI, Aksglaede, L, Baralle, D, Dabir, T, Hunter, MF, Kamath, A, Kumar, A, Newbury-Ecob, R, Selicorni, A, Springer, A, Van Maldergem, L, Varghese, V, Yachelevich, N, Tatton-Brown, K, Mill, J, Crosby, AH, Baple, EL

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/110920/6/Genome%20Res.-2019-Jeffries-1057-66.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/110920/1/Genome%20Res.-2019-Jeffries-gr.243584.118.pdfTest; Jeffries, AR; Maroofian, R; Salter, CG; Chioza, BA; Cross, HE; Patton, MA; Dempster, E; Temple, IK; Mackay, DJG; Rezwan, FI; et al. Jeffries, AR; Maroofian, R; Salter, CG; Chioza, BA; Cross, HE; Patton, MA; Dempster, E; Temple, IK; Mackay, DJG; Rezwan, FI; Aksglaede, L; Baralle, D; Dabir, T; Hunter, MF; Kamath, A; Kumar, A; Newbury-Ecob, R; Selicorni, A; Springer, A; Van Maldergem, L; Varghese, V; Yachelevich, N; Tatton-Brown, K; Mill, J; Crosby, AH; Baple, EL (2019) Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging. Genome Res, 29 (7). pp. 1057-1066. ISSN 1549-5469 https://doi.org/10.1101/gr.243584.118Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1101/gr.243584.118Test
https://openaccess.sgul.ac.uk/id/eprint/110920Test/
https://openaccess.sgul.ac.uk/id/eprint/110920/6/Genome%20Res.-2019-Jeffries-1057-66.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/110920/1/Genome%20Res.-2019-Jeffries-gr.243584.118.pdfTest

المؤلفون: Muggenthaler, MM, Chowdhury, B, Hasan, SN, Cross, HE, Mark, B, Harlalka, GV, Patton, MA, Ishida, M, Behr, ER, Sharma, S, Zahka, K, Faqeih, E, Blakley, B, Jackson, M, Lees, M, Dolinsky, V, Cross, L, Stanier, P, Salter, C, Baple, EL, Alkuraya, FS, Crosby, AH, Triggs-Raine, B, Chioza, BA

المصدر: PLoS Genetics , 13 (1) , Article e1006470. (2017)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1535435/1/HYAL2%20paper.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1535435Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1535435/1/HYAL2%20paper.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1535435Test/

المؤلفون: Muggenthaler, MMA, Chowdhury, B, Hasan, SN, Cross, HE, Mark, B, Harlalka, GV, Patton, MA, Ishida, M, Behr, ER, Sharma, S, Zahka, K, Faqeih, E, Blakley, B, Jackson, M, Lees, M, Dolinsky, V, Cross, L, Stanier, P, Salter, C, Baple, EL, Alkuraya, FS, Crosby, AH, Triggs-Raine, B, Chioza, BA

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/108516/1/Muggenthaler%20journal.%20Mutations%20in%20HYAL2%20encoding%20hyaluronidase%202,%20cause%20a%20syndrome%20of%20orfacial%20clefting.pdfTest; Muggenthaler, MMA; Chowdhury, B; Hasan, SN; Cross, HE; Mark, B; Harlalka, GV; Patton, MA; Ishida, M; Behr, ER; Sharma, S; et al. Muggenthaler, MMA; Chowdhury, B; Hasan, SN; Cross, HE; Mark, B; Harlalka, GV; Patton, MA; Ishida, M; Behr, ER; Sharma, S; Zahka, K; Faqeih, E; Blakley, B; Jackson, M; Lees, M; Dolinsky, V; Cross, L; Stanier, P; Salter, C; Baple, EL; Alkuraya, FS; Crosby, AH; Triggs-Raine, B; Chioza, BA (2017) Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet, 13 (1). e1006470. ISSN 1553-7404 https://doi.org/10.1371/journal.pgen.1006470Test SGUL Authors: Behr, Elijah Raphael Patton, Michael Alexander Sharma, Sanjay

الإتاحة: https://doi.org/10.1371/journal.pgen.1006470Test
https://openaccess.sgul.ac.uk/id/eprint/108516Test/
https://openaccess.sgul.ac.uk/id/eprint/108516/1/Muggenthaler%20journal.%20Mutations%20in%20HYAL2%20encoding%20hyaluronidase%202,%20cause%20a%20syndrome%20of%20orfacial%20clefting.pdfTest

المؤلفون: Baple, EL, Maroofian, R, Chioza, BA, Izadi, M, Cross, HE, Al-Turki, S, Barwick, K, Skrzypiec, A, Pawlak, R, Wagner, K, Coblentz, R, Zainy, T, Patton, MA, Mansour, S, Rich, P, Qualmann, B, Hurles, ME, Kessels, MM, Crosby, AH

المصدر: The American Journal of Human Genetics , 94 (1) pp. 87-94. (2014)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10076065/7/Barwick_Mutations%20in%20KPTN%20Cause%20Macrocephaly,%20Neurodevelopmental%20Delay,%20and%20Seizures_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10076065Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10076065/7/Barwick_Mutations%20in%20KPTN%20Cause%20Macrocephaly,%20Neurodevelopmental%20Delay,%20and%20Seizures_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10076065Test/

المؤلفون: Wilson Wc, Hornig do Ht, Chang Jh, Jourdain Aa, Martinou Jc, Falkenberg M, Spåhr H, Larsson Ng, Lewis Rj, Hewitt L, Baslé A, Cross He, Tong L, Lebel Rr, Crosby Ah, Chrzanowska lightowlers Zma, Lightowlers Rn, BRUNI, FRANCESCO

المساهمون: Wilson, Wc, Hornig do, Ht, Bruni, Francesco, Chang, Jh, Jourdain, Aa, Martinou, Jc, Falkenberg, M, Spåhr, H, Larsson, Ng, Lewis, Rj, Hewitt, L, Baslé, A, Cross, He, Tong, L, Lebel, Rr, Crosby, Ah, Chrzanowska lightowlers, Zma, Lightowlers, Rn

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000346777400017; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11586/201004Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84921925252

الإتاحة: http://hdl.handle.net/11586/201004Test

المؤلفون: Tekin, M, Chioza, BA, Matsumoto, Y, Diaz-Horta, O, Cross, HE, Duman, D, Kokotas, H, Moore-Barton, HL, Sakoori, K, Ota, M, Odaka, YS, Foster, J, Cengiz, FB, Tokgoz-Yilmaz, S, Tekeli, O, Grigoriadou, M, Petersen, MB, Sreekantan-Nair, A, Gurtz, K, Xia, XJ, Pandya, A, Patton, MA, Young, JI, Aruga, J, Crosby, AH

العلاقة: Tekin, M; Chioza, BA; Matsumoto, Y; Diaz-Horta, O; Cross, HE; Duman, D; Kokotas, H; Moore-Barton, HL; Sakoori, K; Ota, M; et al. Tekin, M; Chioza, BA; Matsumoto, Y; Diaz-Horta, O; Cross, HE; Duman, D; Kokotas, H; Moore-Barton, HL; Sakoori, K; Ota, M; Odaka, YS; Foster, J; Cengiz, FB; Tokgoz-Yilmaz, S; Tekeli, O; Grigoriadou, M; Petersen, MB; Sreekantan-Nair, A; Gurtz, K; Xia, XJ; Pandya, A; Patton, MA; Young, JI; Aruga, J; Crosby, AH (2013) SLITRK6 mutations cause myopia and deafness in humans and mice. JOURNAL OF CLINICAL INVESTIGATION, 123 (5). 2094 - 2102 (9). ISSN 0021-9738 https://doi.org/10.1172/JCI65853Test SGUL Authors: Chioza, Barry Andrew Patton, Michael Alexander Sreekantan Nair, Ajith

الإتاحة: https://doi.org/10.1172/JCI65853Test
https://openaccess.sgul.ac.uk/id/eprint/101675Test/

المؤلفون: Simpson MA, Cross HE, Cross L, Helmuth M, Crosby AH, Simpson, Michael A, Cross, Harold E, Cross, Leroy, Helmuth, Mervin, Crosby, Andrew H

المصدر: American Journal of Kidney Diseases; May2009, Vol. 53 Issue 5, p790-795, 6p

المؤلفون: Zule WA (AUTHOR), Cross HE (AUTHOR), Stover J (AUTHOR), Pretorius C (AUTHOR), Zule, William A¹ (AUTHOR), Cross, Harry E (AUTHOR), Stover, John (AUTHOR), Pretorius, Carel (AUTHOR)

المصدر: International Journal of Drug Policy. Jan2013, Vol. 24 Issue 1, p21-22. 2p.

المؤلفون: Cross, Helen

مرشدي الرسالة: Heckmann, Jeannine M

مصطلحات موضوعية: Neurology

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/11427/27825Test