المؤلفون: Weiss, K, Wigby, K, Fannemel, M, Henderson, LB, Beck, N, Ghali, N, Anderlid, BM, Lundin, J, Hamosh, A, Jones, MC, Ghedia, S, Muenke, M, Kruszka, P

المصدر: European journal of human genetics : EJHG. 25(8):946-951

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:136211646

المؤلفون: Nicolas-Martinez, EC, Robinson, O, Pflueger, C, Gardner, A, Corbett, MA, Ritchie, T, Kroes, T, van Eyk, CL, Scheffer, IE, Hildebrand, MS, Barnier, J-V, Rousseau, V, Genevieve, D, Haushalter, V, Piton, A, Denommé-Pichon, A-S, Bruel, A-L, Nambot, S, Isidor, B, Grigg, J, Gonzalez, T, Ghedia, S, Marchant, RG, Bournazos, A, Wong, W-K, Webster, RI, Evesson, FJ, Jones, KJ, PERSYST Investigator Team, Cooper, ST, Lister, R, Gecz, J, Jolly, LA, Berkovic, SF, Delatycki, M

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/350029

المؤلفون: Dias, K.-R., Shrestha, R., Schofield, D., Evans, C.-A., O'Heir, E., Zhu, Y., Zhang, F., Standen, K., Weisburd, B., Stenton, S.L., Sanchis-Juan, A., Brand, H., Talkowski, M.E., Ma, A., Ghedia, S., Wilson, M., Sandaradura, S.A., Smith, J., Kamien, B., Turner, A.

المصدر: http://dx.doi.org/10.1016/j.gim.2024.101076.

مصطلحات موضوعية: episignature, exome-negative, genome sequencing, health economics, intellectual disability

Relation: NHMRC; Genetics in Medicine, 2024; 26(5):101076-101076; https://hdl.handle.net/2440/140538; Corbett, M.A. [0000-0001-9298-3072]; Gecz, J. [0000-0002-7884-6861]

الاتاحة: https://hdl.handle.net/2440/140538
https://doi.org/10.1016/j.gim.2024.101076

المؤلفون: Zagaglia S., Selch C., Nisevic J. R., Mei D., Michalak Z., Hernandez-Hernandez L., Krithika S., Vezyroglou K., Varadkar S. M., Pepler A., Biskup S., Leao M., Gartner J., Merkenschlager A., Jaksch M., Moller R. S., Gardella E., Kristiansen B. S., Hansen L. K., Vari M. S., Helbig K. L., Desai S., Smith-Hicks C. L., Hino-Fukuyo N., Talvik T., Laugesaar R., Ilves P., Ounap K., Korber I., Hartlieb T., Kudernatsch M., Winkler P., Schimmel M., Hasse A., Knuf M., Heinemeyer J., Makowski C., Ghedia S., Subramanian G. M., Striano P., Thomas R. H., Micallef C., Thom M., Werring D. J., Kluger G. J., Cross J. H., Guerrini R., Balestrini S., Sisodiya S. M.

المساهمون: Zagaglia, S., Selch, C., Nisevic, J. R., Mei, D., Michalak, Z., Hernandez-Hernandez, L., Krithika, S., Vezyroglou, K., Varadkar, S. M., Pepler, A., Biskup, S., Leao, M., Gartner, J., Merkenschlager, A., Jaksch, M., Moller, R. S., Gardella, E., Kristiansen, B. S., Hansen, L. K., Vari, M. S., Helbig, K. L., Desai, S., Smith-Hicks, C. L., Hino-Fukuyo, N., Talvik, T., Laugesaar, R., Ilves, P., Ounap, K., Korber, I., Hartlieb, T., Kudernatsch, M., Winkler, P., Schimmel, M., Hasse, A., Knuf, M., Heinemeyer, J., Makowski, C., Ghedia, S., Subramanian, G. M., Striano, P., Thomas, R. H., Micallef, C., Thom, M., Werring, D. J., Kluger, G. J., Cross, J. H., Guerrini, R., Balestrini, S., Sisodiya, S. M.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000452519500005; volume:91; firstpage:e2078; lastpage:e2088; numberofpages:17; journal:NEUROLOGY; http://hdl.handle.net/11567/1022057; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85057142501

الاتاحة: http://hdl.handle.net/11567/1022057
https://doi.org/10.1212/WNL.0000000000006567

المؤلفون: White, S, Mossfield, T, Fleming, J, Barlow-Stewart, K, Ghedia, S, Dickson, R, Richards, F, Bombard, Y, Wiley, V

مصطلحات الفهرس: 0604 Genetics, 1103 Clinical Sciences, Journal Article

URL: http://hdl.handle.net/10453/172943
Eur J Hum Genet
10.1038/s41431-023-01311-1

المؤلفون: Zagaglia, S, Selch, C, Nisevic, JR, Mei, D, Michalak, Z, Hernandez-Hernandez, L, Krithika, S, Vezyroglou, K, Varadkar, SM, Pepler, A, Biskup, S, Leão, M, Gärtner, J, Merkenschlager, A, Jaksch, M, Møller, RS, Gardella, E, Kristiansen, BS, Hansen, LK, Vari, MS, Helbig, KL, Desai, S, Smith-Hicks, CL, Hino-Fukuyo, N, Talvik, T, Laugesaar, R, Ilves, P, Õunap, K, Körber, I, Hartlieb, T, Kudernatsch, M, Winkler, P, Schimmel, M, Hasse, A, Knuf, M, Heinemeyer, J, Makowski, C, Ghedia, S, Subramanian, GM, Striano, P, Thomas, RH, Micallef, C, Thom, M, Werring, DJ, Kluger, GJ, Cross, JH, Guerrini, R, Balestrini, S, Sisodiya, SM

المصدر: Neurology , 91 e1-e11. (2018)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10061911/1/WNL.0000000000006567.full.pdf; https://discovery.ucl.ac.uk/id/eprint/10061911/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10061911/1/WNL.0000000000006567.full.pdf
https://discovery.ucl.ac.uk/id/eprint/10061911/

المؤلفون: Mirzaa, G., Timms, A.E., Conti, V., Boyle, E.A., Girisha, K.M., Martin, B., Kircher, M., Olds, C., Juusola, J., Collins, S., Park, K., Carter, M., Glass, I., Krägeloh-Mann, I., Chitayat, D., Parikh, A.S., Bradshaw, R., Torti, E., Braddock, S., Burke, L., Ghedia, S., Stephan, M., Stewart, F., Prasad, C., Napier, M., Saitta, S., Straussberg, R., Gabbett, M., O'Connor, B.C., Keegan, C.E., Yin, L.J., Lai, A.H., Martin, N., McKinnon, M., Addor, M.C., Boccuto, L., Schwartz, C.E., Lanoel, A., Conway, R.L., Devriendt, K., Tatton-Brown, K., Pierpont, M.E., Painter, M., Worgan, L., Reggin, J., Hennekam, R., Tsuchiya, K., Pritchard, C.C., Aracena, M., Gripp, K.W., Cordisco, M., Van Esch, H., Garavelli, L., Curry, C., Goriely, A., Kayserilli, H., Shendure, J., Graham, J., Guerrini, R., Dobyns, W.B.

المصدر: JCI insight, vol. 1, no. 9, pp. 18p.

مصطلحات موضوعية: Class I Phosphatidylinositol 3-Kinases/genetics, Female, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, Malformations of Cortical Development/genetics, Mosaicism, Mutation, Phenotype, Tissue Distribution, Vascular Malformations/genetics

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/27631024; info:eu-repo/semantics/altIdentifier/pissn/2379-3708; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_4CC9606A7F295; https://serval.unil.ch/notice/serval:BIB_4CC9606A7F29; https://serval.unil.ch/resource/serval:BIB_4CC9606A7F29.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_4CC9606A7F29
https://doi.org/10.1172/jci.insight.87623
https://serval.unil.ch/resource/serval:BIB_4CC9606A7F29.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4CC9606A7F295

المؤلفون: Mirzaa, G, Timms, AE, Conti, V, Boyle, EA, Girisha, KM, Martin, B, Kircher, M, Olds, C, Juusola, J, Collins, S, Park, K, Carter, M, Glass, I, Krägeloh-Mann, I, Chitayat, D, Parikh, AS, Bradshaw, R, Torti, E, Braddock, S, Burke, L, Ghedia, S, Stephan, M, Stewart, F, Prasad, C, Napier, M, Saitta, S, Straussberg, R, Gabbett, M, O'Connor, BC, Keegan, CE, Yin, LJ, Lai, AHM, Martin, N, McKinnon, M, Addor, M-C, Boccuto, L, Schwartz, CE, Lanoel, A, Conway, RL, Devriendt, K, Tatton-Brown, K, Pierpont, ME, Painter, M, Worgan, L, Reggin, J, Hennekam, R, Tsuchiya, K, Pritchard, CC, Aracena, M, Gripp, KW, Cordisco, M, Van Esch, H, Garavelli, L, Curry, C, Goriely, A, Kayserilli, H, Shendure, J, Graham, J, Guerrini, R, Dobyns, WB

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/111377/1/87623.4-20170503130349-covered-253bed37ca4c1ab43d105aefdf7b5536.pdf; Mirzaa, G; Timms, AE; Conti, V; Boyle, EA; Girisha, KM; Martin, B; Kircher, M; Olds, C; Juusola, J; Collins, S; et al. Mirzaa, G; Timms, AE; Conti, V; Boyle, EA; Girisha, KM; Martin, B; Kircher, M; Olds, C; Juusola, J; Collins, S; Park, K; Carter, M; Glass, I; Krägeloh-Mann, I; Chitayat, D; Parikh, AS; Bradshaw, R; Torti, E; Braddock, S; Burke, L; Ghedia, S; Stephan, M; Stewart, F; Prasad, C; Napier, M; Saitta, S; Straussberg, R; Gabbett, M; O'Connor, BC; Keegan, CE; Yin, LJ; Lai, AHM; Martin, N; McKinnon, M; Addor, M-C; Boccuto, L; Schwartz, CE; Lanoel, A; Conway, RL; Devriendt, K; Tatton-Brown, K; Pierpont, ME; Painter, M; Worgan, L; Reggin, J; Hennekam, R; Tsuchiya, K; Pritchard, CC; Aracena, M; Gripp, KW; Cordisco, M; Van Esch, H; Garavelli, L; Curry, C; Goriely, A; Kayserilli, H; Shendure, J; Graham, J; Guerrini, R; Dobyns, WB (2016) PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight, 1 (9). e87623. ISSN 2379-3708 https://doi.org/10.1172/jci.insight.87623 SGUL Authors: Tatton-Brown, Katrina Louise

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/111377/
https://openaccess.sgul.ac.uk/id/eprint/111377/1/87623.4-20170503130349-covered-253bed37ca4c1ab43d105aefdf7b5536.pdf

المؤلفون: van Kogelenberg, M., Ghedia, S., McGillivray, G., Bruno, D., Leventer, R., MacDermot, K., Nelson, J., Nagarajan, L., Veltman, J.A., de Brouwer, A.P., McKinlay Gardner, R.J., van Bokhoven, H., Kirk, E.P., Robertson, S.P.

المصدر: Molecular Syndromology ; volume 1, issue 1, page 35-41 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000274491
https://www.karger.com/Article/Pdf/274491

المؤلفون: Wilson M., Cliffe C., Elakis G., Zhu Y., Nixon C., Smith J., Turner A., Walsh M., Wallis M., Roscioli T., Worgan L., Schofield D., Lau C., Kirk E., Mead S., Buckley M., Hunter M., Fahey M., Mullan G., Lang S., Richards A., Quayum N., Ades L., Amor D., Bakshi M., Berman Y., Brown N., Chung C., Colley A., Collins F., Edwards M., Ellaway C., Ewans L., Field M., Freckmann M., Gabbett M., Goel H., Ghedia S., Goodwin L., Hackett A., Jones K., Josephi-Taylor S., Kamian B., Kennedy D., Ma A., McGillivray G., Mowat D., Palmer E., Pinner J., Rajagopalan S., Ronan A., Sachdev R., Sandaradura S., Sinnerbrink I.

مصطلحات الفهرس: patient referral, adult, bioinformatics, cost effectiveness analysis, drug safety, female, human, library, major clinical study, moyamoya disease, patient safety, pipeline, practice guideline, pregnancy, prenatal diagnosis, recurrence risk, whole exome sequencing, proton, conference abstract, Conference Abstract

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/36513
Click here for full text options
LibKey Link

المؤلفون: Kruszka, P, Hu, T, Martinez-Agosto, JA, Signer, R, Jurgens, J, Engle, EC, Hartley, T, Boycott, KM, Fannemel, M, Beck, N, Ghali, N, Anderlid, BM, Lundin, J, Ghedia, S, Bartley, CM, Spillmann, RC, Wigby, K, Giltay, JC, van Gassen, KLI, Brigatti, KW, Mazzola, S, Zackai, EH, Hong, SK, Hamosh, A, Jones, MC, Weiss, K, Muenke, M

المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 179(4):706-707

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140661102

المؤلفون: Kogelenberg, M. van, Ghedia, S., McGillivray, G., Bruno, D., Leventer, R., Macdermot, K., Nelson, J., Nagarajan, L., Veltman, J.A., Brouwer, A.P.M. de, McKinlay Gardner, R.J., Bokhoven, J.H.L.M. van, Kirk, E.P., Robertson, S.P.

المصدر: Molecular Syndromology, 1, 1, pp. 35-41

مصطلحات موضوعية: DCN 2: Functional Neurogenomics, IGMD 3: Genomic disorders and inherited multi-system disorders, NCMLS 6: Genetics and epigenetic pathways of disease

Relation: http://hdl.handle.net/2066/89801

الاتاحة: http://hdl.handle.net/2066/89801

المؤلفون: Ghedia, S., Locherer, T., Dinnebier, R., Prasad, D., Wedig, U., Jansen, M.

المصدر: Physical Review B

Relation: http://hdl.handle.net/21.11116/0000-000E-BD44-1

الاتاحة: http://hdl.handle.net/21.11116/0000-000E-BD44-1

المؤلفون: Bräuniger, T., Ghedia, S., Jansen, M.

المصدر: Zeitschrift für anorganische und allgemeine Chemie

Relation: http://hdl.handle.net/21.11116/0000-000E-BCC2-3

الاتاحة: http://hdl.handle.net/21.11116/0000-000E-BCC2-3

المؤلفون: Locherer, T., Ghedia, S., Senyshyn, A., Prasad, D., Dinnebier, R., Jansen, M.

المصدر: Acta Crystallographica A, Supplement

Relation: http://hdl.handle.net/21.11116/0000-000E-BB9F-D

الاتاحة: http://hdl.handle.net/21.11116/0000-000E-BB9F-D

المؤلفون: Tan, T. Y., Aftimos, S., Slavotinek, A., Hogue, J., Moeschler, J. B., Ozmore, J., Widmer, R., Savarirayan, R., Peters, G., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E. P., Love, D., Ronan, A., Darmanian, A.

المساهمون: The University of Newcastle. Faculty of Health, School of Medicine and Public Health

مصطلحات موضوعية: MAPT, disorders, genes

Relation: Journal of Medical Genetics Vol. 46, Issue 7, p. 480-489; uon:8287; http://hdl.handle.net/1959.13/917364

الاتاحة: http://hdl.handle.net/1959.13/917364

المؤلفون: Kirk, EP, Tan, TY, Aftimos, S, Worgan, L, Susman, R, Wilson, M, Ghedia, S, Love, D, Ronan, A, Darmanian, A, Slavotinek, A, Hogue, J, Moeschler, JB, Ozmore, J, Widmer, R, Savarirayan, R, Peters, G

مصطلحات موضوعية: Abnormalities, Multiple - Diagnosis - Genetics - Pathology, Child, Preschool, Chromosomes, Human, Pair 17, Comparative Genomic Hybridization, Female, Gene Deletion, Humans, Infant, Male, Oligonucleotide Array Sequence Analysis, Phenotype, Syndrome

Relation: Journal of Medical Genetics; http://www.scopus.com/mlt/select.url?eid=2-s2.0-67650446211&selection=ref&src=s&origin=recordpage; Journal Of Medical Genetics, 2009, v. 46 n. 7, p. 480-489; 5781611; 489; WOS:000267603600011; eid_2-s2.0-67650446211; 480; http://hdl.handle.net/10722/170417; 46

الاتاحة: https://doi.org/10.1136/jmg.2008.065391
http://hdl.handle.net/10722/170417

المؤلفون: Ghedia, S., Dinnebier, R., Jansen, M.

المصدر: Solid State Sciences

Relation: http://hdl.handle.net/21.11116/0000-000E-B8B7-4

الاتاحة: http://hdl.handle.net/21.11116/0000-000E-B8B7-4

المؤلفون: Ng, BHK, Mulyadi, E, Pereira, JK, Ghedia, S, Pinner, J, Mowat, D, Vonau, M

المصدر: Australasian Radiology ; volume 50, issue 6, page 583-590 ; ISSN 0004-8461 1440-1673

الاتاحة: http://dx.doi.org/10.1111/j.1440-1673.2006.01638.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1440-1673.2006.01638.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1440-1673.2006.01638.x

المؤلفون: Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärter J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, SmithHicks CL, HinoFukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM

المصدر: Neurology

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/253492; https://eprints.ncl.ac.uk/fulltext.aspx?url=253492/BF153AFC-C23C-4069-B01E-BE8BB4CBE39E.pdf&pub_id=253492

الاتاحة: https://eprints.ncl.ac.uk/253492