المؤلفون: Elsea, SH, Solyom, A, Martin, K, Harmatz, P, Mitchell, J, Lampe, C, Grant, C, Selim, L, Mungan, NO, Guelbert, N, Magnusson, B, Sundberg, E, Puri, R, Kapoor, S, Arslan, N, DiRocco, M, Zaki, M, Ozen, S, Mahmoud, IG, Ehlert, K, Hahn, A, Gokcay, G, Torcoletti, M, Ferreira, CR

المصدر: Human mutation. 41(9):1469-1487

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Klinisk medicin, Neurologi

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:144042828Test

المؤلفون: Zollino, M, Zweier, C, Van Balkom, ID, Sweetser, DA, Alaimo, J, Bijlsma, EK, Cody, J, Elsea, SH, Giurgea, I, Macchiaiolo, M, Smigiel, R, Thibert, RL, Benoist, I, Clayton-Smith, J, De Winter, CF, Deckers, S, Gandhi, A, Huisman, S, Kempink, D, Kruisinga, F, Lamacchia, V, Marangi, G, Menke, L, Mulder, P, Nordgren, A, Renieri, A, Routledge, S, Saunders, CJ, Stembalska, A, Van Balkom, H, Whalen, S, Hennekam, RC

المصدر: Clinical genetics. 95(4):462-478

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:140591061Test

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: 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

المؤلفون: Cappuccio G, Pinelli M, Alagia M, Donti T, Bravaccio C, Bernardo P, Elsea SH, Brunetti-Pierri N.

المساهمون: Cappuccio, G, Pinelli, M, Alagia, M, Donti, T, Bravaccio, C, Bernardo, P, Elsea, Sh, Brunetti-Pierri, N.

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000489312603072; volume:26; issue:S; firstpage:{361; lastpage:362}; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11588/833443Test

الإتاحة: http://hdl.handle.net/11588/833443Test

المؤلفون: Baek Ws, Elsea Sh

المصدر: Journal of Genetic Disorders & Genetic Reports.

مصطلحات موضوعية: medicine.medical_specialty, Disruptive behavior, Ramelteon, Smith–Magenis syndrome, medicine.disease, Parent ratings, mental disorders, medicine, Insomnia, Vanderbilt ADHD, Autism, medicine.symptom, Psychology, Psychiatry, Amphetamine-dextroamphetamine, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ca6816a335752090ab727141c6f515efTest
https://doi.org/10.4172/2327-5790.1000145Test

المؤلفون: Chung, BHY, MendozaLondono, R, Weksberg, R, Brick, L, Aradhya, S, Stavropoulos, DJ, Elsea, SH, Scherer, SW, Dupuis, L, Li, C, Marshall, CR, Mullegama, S, Lionel, AC

مصطلحات موضوعية: CGH microarray, 2q23.1 microduplication, MBD5 gene, autism spectrum disorder

العلاقة: European Journal of Human Genetics; http://www.scopus.com/mlt/select.url?eid=2-s2.0-84858337277&selection=ref&src=s&origin=recordpageTest; European Journal Of Human Genetics, 2012, v. 20 n. 4, p. 398-403; 403; 199117; WOS:000301736600007; PMC3306850; eid_2-s2.0-84858337277; 398; http://hdl.handle.net/10722/143777Test; 20

الإتاحة: https://doi.org/10.1038/ejhg.2011.199Test
http://hdl.handle.net/10722/143777Test

المؤلفون: Girirajan, S, Truong, HT, Blanchard, CL, Elsea, SH

المصدر: Clinical Genetics ; volume 75, issue 4, page 364-374 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2008.01135.xTest

المؤلفون: Edelman, EA, Girirajan, S, Finucane, B, Patel, PI, Lupski, JR, Smith, ACM, Elsea, SH

المصدر: Clinical Genetics ; volume 71, issue 6, page 540-550 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2007.00815.xTest

المؤلفون: Girirajan, S, Williams, SR, Garbern, JY, Nowak, N, Hatchwell, E, Elsea, SH

المصدر: Clinical Genetics ; volume 72, issue 1, page 47-58 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/j.1399-0004.2007.00831.xTest