المؤلفون: Cogne, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjold, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Sapp, JC, Zyskind, J, Holla, OL, Bedoukian, E, Filippini, F, Guimier, A, Picard, A, Busk, OL, Punetha, J, Pfundt, R, Lindstrand, A, Nordgren, A, Kalb, F, Desai, M, Ebanks, AH, Jhangiani, SN, Dewan, T, Akdemir, ZHC, Telegrafi, A, Zackai, EH, Begtrup, A, Song, XF, Toutain, A, Wentzensen, IM, Odent, S, Bonneau, D, Latypova, X, Deb, W, Redon, S, Bilan, F, Legendre, M, Troyer, C, Whitlock, K, Caluseriu, O, Murphree, MI, Pichurin, PN, Agre, K, Gavrilova, R, Rinne, T, Park, M, Shain, C, Heinzen, EL, Xiao, R, Amiel, J, Lyonnet, S, Isidor, B, Biesecker, LG, Lowenstein, D, Posey, JE, Denomme-Pichon, AS, Ferec, C, Yang, XJ, Rosenfeld, JA, Gilbert-Dussardier, B, Audebert-Bellanger, S, Redon, R, Stessman, HAF, Nellaker, C, Yang, YP, Lupski, JR, Goldstein, DB, Eichler, EE, Bolduc, F, Bezieau, S, Kury, S, Campeau, PM

المصدر: American journal of human genetics. 104(3):530-541

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140454820

المؤلفون: Le, TL, Galmiche, L, Levy, J, Suwannarat, P, Hellebrekers, DM, Morarach, K, Boismoreau, F, Theunissen, TEJ, Lefebvre, M, Pelet, A, Martinovic, J, Gelot, A, Guimiot, F, Calleroz, A, Gitiaux, C, Hully, M, Goulet, O, Chardot, C, Drunat, S, Capri, Y, Bole-Feysot, C, Nitschke, P, Whalen, S, Mouthon, L, Babcock, HE, Hofstra, R, de Coo, IFM, Tabet, AC, Molina, TJ, Keren, B, Brooks, A, Smeets, HJM, Marklund, U, Gordon, CT, Lyonnet, S, Amiel, J, Bondurand, N

المصدر: The Journal of clinical investigation. 131(6)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146878628

المؤلفون: Gordon, CT, Weaver, KN, Zechi-Ceide, RM, Madsen, EC, Tavares, ALP, Oufadem, M, Kurihara, Y, Adameyko, I, Picard, A, Breton, S, Pierrot, S, Biosse-Duplan, M, Voisin, N, Masson, C, Bole-Feysot, C, Nitschke, P, Delrue, MA, Lacombe, D, Guion-Almeida, ML, Moura, PP, Garib, DG, Munnich, A, Ernfors, P, Hufnagel, RB, Hopkin, RJ, Kurihara, H, Saal, HM, Weaver, DD, Katsanis, N, Lyonnet, S, Golzio, C, Clouthier, DE, Amiel, J

المصدر: American journal of human genetics. 96(4):519-531

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:131007926

المؤلفون: Engal, E, Oja, KT, Maroofian, R, Geminder, O, Le, TL, Marzin, P, Guimier, A, Mor, E, Zvi, N, Elefant, N, Zaki, MS, Gleeson, JG, Muru, K, Pajusalu, S, Wojcik, MH, Pachat, D, Elmaksoud, MA, Chan Jeong, W, Lee, H, Bauer, P, Zifarelli, G, Houlden, H, Daana, M, Elpeleg, O, Amiel, J, Lyonnet, S, Gordon, CT, Harel, T, Õunap, K, Salton, M, Mor-Shaked, H

المصدر: American Journal of Human Genetics , 110 (12) pp. 2112-2119. (2023)

مصطلحات موضوعية: WBP4, pre-mRNA splicing, spliceosome, syndromic neurodevelopmental disorder

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10186879/3/Houlden_AJHG-D-23-00431-R3_Manuscript_revised_clean_corrected_affiliations%5B309052%5D.pdf; https://discovery.ucl.ac.uk/id/eprint/10186879/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10186879/3/Houlden_AJHG-D-23-00431-R3_Manuscript_revised_clean_corrected_affiliations%5B309052%5D.pdf
https://discovery.ucl.ac.uk/id/eprint/10186879/

المؤلفون: Gordon, CT, Jimenez‐Fernandez, S, Daniels, LB, Kahn, AM, Tarsa, M, Matsubara, T, Shimizu, C, Burns, JC, Gordon, JB

المصدر: BJOG An International Journal of Obstetrics & Gynaecology. 121(11)

مصطلحات موضوعية: Pediatric, Cardiovascular, Clinical Research, Heart Disease, Contraception/Reproduction, Reproductive health and childbirth, Good Health and Well Being, Adult, Calcinosis, Delivery, Obstetric, Echocardiography, Female, Humans, Magnetic Resonance Angiography, Middle Aged, Mothers, Mucocutaneous Lymph Node Syndrome, Pre-Eclampsia, Pregnancy, Pregnancy Complications, Cardiovascular, Pregnancy Outcome, Retrospective Studies, Surveys and Questionnaires, Tomography, X-Ray Computed, Anticoagulation, coronary artery aneurysms, Kawasaki disease, pregnancy, vasculitis, Medical and Health Sciences, Obstetrics & Reproductive Medicine

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0w4830zx

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

Relation: 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/s41436-021-01296-6.; http://hdl.handle.net/11343/301493

الاتاحة: http://hdl.handle.net/11343/301493

المؤلفون: Dion, C, Roche, S, Laberthonniere, C, Broucqsault, N, Mariot, V, Xue, S, Gurzau, AD, Nowak, A, Gordon, CT, Gaillard, M-C, El-Yazidi, C, Thomas, M, Schlupp-Robaglia, A, Missirian, C, Malan, V, Ratbi, L, Sefiani, A, Wollnik, B, Binetruy, B, Campana, ES, Attarian, S, Bernard, R, Nguyen, K, Amie, J, Dumonceaux, J, Murphy, JM, Dejardin, J, Blewitt, ME, Reversade, B, Robin, JD, Magdinier, F

Relation: pii: 5304324; Dion, C., Roche, S., Laberthonniere, C., Broucqsault, N., Mariot, V., Xue, S., Gurzau, A. D., Nowak, A., Gordon, C. T., Gaillard, M. -C., El-Yazidi, C., Thomas, M., Schlupp-Robaglia, A., Missirian, C., Malan, V., Ratbi, L., Sefiani, A., Wollnik, B., Binetruy, B. ,. Magdinier, F. (2019). SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite. NUCLEIC ACIDS RESEARCH, 47 (6), pp.2822-2839. https://doi.org/10.1093/nar/gkz005.; http://hdl.handle.net/11343/253769

الاتاحة: http://hdl.handle.net/11343/253769

المؤلفون: Xu, M, Xie, YA, Abouzeid, H, Gordon, CT, Fiorentino, A, Sun, Z, Lehman, A, Osman, IS, Dharmat, R, Riveiro-Alvarez, R, Bapst-Wicht, L, Babino, D, Arno, G, Busetto, V, Zhao, L, Li, H, Lopez-Martinez, MA, Azevedo, LF, Hubert, L, Pontikos, N, Eblimit, A, Lorda-Sanchez, I, Kheir, V, Plagnol, V, Oufadem, M, Soens, ZT, Yang, L, Bole-Feysot, C, Pfundt, R, Allaman-Pillet, N, Nitschké, P, Cheetham, ME, Lyonnet, S, Agrawal, SA, Pinton, G, Michaelides, M, Besmond, C, Li, Y, Yuan, Z, Von Lintig, J, Webster, AR, Le Hir, H, Stoilov, P, Consortium, UK Inherited Retinal Dystrophy, Halford, S, Amiel, J, Hardcastle, AJ, Ayuso, C, Sui, R, Chen, R, Allikmets, R, Schorderet, DF

Relation: https://ora.ox.ac.uk/objects/uuid:a808a1e4-379a-4ff4-84ca-df4324613453; https://doi.org/10.1016/j.ajhg.2017.02.008

الاتاحة: https://doi.org/10.1016/j.ajhg.2017.02.008
https://ora.ox.ac.uk/objects/uuid:a808a1e4-379a-4ff4-84ca-df4324613453

المؤلفون: Dubail, J, Huber, C, Chantepie, S, Sonntag, S, Tüysüz, B, Mihci, E, Gordon, CT, Steichen-Gersdorf, E, Amiel, J, Nur, B, Stolte-Dijkstra, I, van Eerde, AM, van Gassen, KL, Breugem, CC, Stegmann, A, Lekszas, C, Maroofian, R, Karimiani, EG, Bruneel, A, Seta, N, Munnich, A, Papy-Garcia, D, De La Dure-Molla, M, Cormier-Daire, V

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/110393/1/s41467-018-05191-8.pdf; Dubail, J; Huber, C; Chantepie, S; Sonntag, S; Tüysüz, B; Mihci, E; Gordon, CT; Steichen-Gersdorf, E; Amiel, J; Nur, B; et al. Dubail, J; Huber, C; Chantepie, S; Sonntag, S; Tüysüz, B; Mihci, E; Gordon, CT; Steichen-Gersdorf, E; Amiel, J; Nur, B; Stolte-Dijkstra, I; van Eerde, AM; van Gassen, KL; Breugem, CC; Stegmann, A; Lekszas, C; Maroofian, R; Karimiani, EG; Bruneel, A; Seta, N; Munnich, A; Papy-Garcia, D; De La Dure-Molla, M; Cormier-Daire, V (2018) SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects. Nat Commun, 9 (1). p. 3087. ISSN 2041-1723 https://doi.org/10.1038/s41467-018-05191-8 SGUL Authors: Maroofian, Reza

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/110393/
https://openaccess.sgul.ac.uk/id/eprint/110393/1/s41467-018-05191-8.pdf

المؤلفون: Palmer, EE, Kumar, R, Gordon, CT, Shaw, M, Hubert, L, Carroll, R, Rio, M, Murray, L, Leffler, M, Dudding-Byth, T, Oufadem, M, Lalani, SR, Lewis, AM, Xia, F, Tam, A, Webster, R, Brammah, S, Filippini, F, Pollard, J, Spies, J, Minoche, AE, Cowley, MJ, Risen, S, Powell-Hamilton, NN, Tusi, JE, Immken, LD, Nagakura, H, Bole-Feysot, C, Nitschké, P, Garrigue, A, de Saint Basile, G, Kivuva, E, Scott, RH, Rendon, A, Munnich, A, Newman, W, Kerr, B, Besmond, C, Rosenfeld, JA, Amiel, J, Field, M, Gecz, J, Palmer, Elizabeth

المصدر: urn:ISSN:0002-9297 ; urn:ISSN:1537-6605 ; American Journal of Human Genetics, 101, 6, 995-1005

مصطلحات موضوعية: 31 Biological Sciences, 32 Biomedical and Clinical Sciences, 42 Health Sciences, Brain Disorders, Pediatric, Intellectual and Developmental Disabilities (IDD), Congenital Structural Anomalies, Genetics, Neurosciences, Clinical Research, 2.1 Biological and endogenous factors, Central Nervous System, Codon, Nonsense, DNA-Binding Proteins, High-Throughput Nucleotide Sequencing, Humans, Intellectual Disability, Limb Deformities, Congenital, Mandibulofacial Dysostosis, Neurocognitive Disorders, Peripheral Nervous System, ZSWIM6, autism, de novo, epilepsy, exome sequencing, genomics, nonsense-mediated decay

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: http://purl.org/au-research/grants/nhmrc/APP1114963; http://hdl.handle.net/1959.4/unsworks_61606; https://doi.org/10.1016/j.ajhg.2017.10.009

الاتاحة: http://hdl.handle.net/1959.4/unsworks_61606
https://unsworks.unsw.edu.au/bitstreams/ed7bdb96-a729-402c-8bd5-f15d9528680b/download
https://doi.org/10.1016/j.ajhg.2017.10.009

المؤلفون: Xu, M, Xie, YA, Abouzeid, H, Gordon, CT, Fiorentino, A, Sun, Z, Lehman, A, Osman, IS, Dharmat, R, Riveiro-Alvarez, R, Bapst-Wicht, L, Babino, D, Arno, G, Busetto, V, Zhao, L, Li, H, Lopez-Martinez, MA, Azevedo, LF, Hubert, L, Pontikos, N, Eblimit, A, Lorda-Sanchez, I, Kheir, V, Plagnol, V, Oufadem, M, Soens, ZT, Yang, L, Bole-Feysot, C, Pfundt, R, Allaman-Pillet, N, Nitschké, P, Cheetham, ME, Lyonnet, S, Agrawal, SA, Pinton, G, Michaelides, M, Besmond, C, Li, Y, Yuan, Z, von Lintig, J, Webster, AR, Le Hir, H, Stoilov, P, UK Inherited Retinal Dystrophy Consortium, ., Amiel, J, Hardcastle, AJ, Ayuso, C, Sui, R, Chen, R, Allikmets, R, Schorderet, DF

المصدر: American Journal of Human Genetics , 100 (4) pp. 592-604. (2017)

مصطلحات موضوعية: CRISPR-Cas9, CWC27, brachydachtyly, craniofacial defects, neurological defects, retinal degeneration, short stature, spliceosome, syndrome

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1546386/1/CWC27_AJHG_MX_020817_accepted.pdf; https://discovery.ucl.ac.uk/id/eprint/1546386/7/CWC27_figure1_AJHG.pdf; https://discovery.ucl.ac.uk/id/eprint/1546386/13/CWC27_figure2_AJHG.pdf; https://discovery.ucl.ac.uk/id/eprint/1546386/19/CWC27_figure3_AJHG.pdf; https://discovery.ucl.ac.uk/id/eprint/1546386/24/CWC27_figure4_AJHG.pdf; https://discovery.ucl.ac.uk/id/eprint/1546386/33/CWC27_figure5_AJHG.pdf; https://discovery.ucl.ac.uk/id/eprint/1546386/39/CWC27_figure6_AJHG.pdf; https://discovery.ucl.ac.uk/id/eprint/1546386/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1546386/1/CWC27_AJHG_MX_020817_accepted.pdf
https://discovery.ucl.ac.uk/id/eprint/1546386/7/CWC27_figure1_AJHG.pdf
https://discovery.ucl.ac.uk/id/eprint/1546386/13/CWC27_figure2_AJHG.pdf
https://discovery.ucl.ac.uk/id/eprint/1546386/19/CWC27_figure3_AJHG.pdf
https://discovery.ucl.ac.uk/id/eprint/1546386/24/CWC27_figure4_AJHG.pdf
https://discovery.ucl.ac.uk/id/eprint/1546386/33/CWC27_figure5_AJHG.pdf
https://discovery.ucl.ac.uk/id/eprint/1546386/39/CWC27_figure6_AJHG.pdf
https://discovery.ucl.ac.uk/id/eprint/1546386/

المؤلفون: Vegas, N, Demir, Z, Gordon, CT, Breton, S, Tavares, VLR, Moisset, H, Zechi-Ceide, R, Kokitsu-Nakata, NM, Kido, Y, Marlin, S, Halem, SG, Meerschaut, I, Callewaert, B, Chung, B, Revencu, N, Lehalle, D, Petit, F, Propst, EJ, Papsin, BC, Phillips, JH, Jakobsen, L, Le Tanno, P, Thevenon, J, McGaughran, J, Gerkes, EH, Leoni, C, Kroisel, P, Tan, TY, Henderson, A, Terhal, P, Basel-Salmon, L, Alkindy, A, White, SM, Passos-Bueno, MR, Pingault, V, De Pontual, L, Amiel, J

Relation: Vegas, N., Demir, Z., Gordon, C. T., Breton, S., Tavares, V. L. R., Moisset, H., Zechi-Ceide, R., Kokitsu-Nakata, N. M., Kido, Y., Marlin, S., Halem, S. G., Meerschaut, I., Callewaert, B., Chung, B., Revencu, N., Lehalle, D., Petit, F., Propst, E. J., Papsin, B. C. ,. Amiel, J. (2022). Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. HUMAN MUTATION, 43 (5), pp.582-594. https://doi.org/10.1002/humu.24349.; http://hdl.handle.net/11343/310378

الاتاحة: http://hdl.handle.net/11343/310378

المؤلفون: Bhatia, S, Gordon, CT, Foster, RG, Melin, L, Abadie, V, Baujat, G, Vazquez, MP, Amiel, J, Lyonnet, S, van Heyningen, V, Kleinjan, DA

المصدر: PLoS Genet , 11 (6) , Article e1005193. (2015)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1470457/1/Functional%20assessment%20of%20disease-associated%20regulatory%20variants%20in%20vivo%20using%20a%20versatile%20dual%20colour%20transgenesis%20strategy%20in%20zebrafish.pdf; https://discovery.ucl.ac.uk/id/eprint/1470457/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1470457/1/Functional%20assessment%20of%20disease-associated%20regulatory%20variants%20in%20vivo%20using%20a%20versatile%20dual%20colour%20transgenesis%20strategy%20in%20zebrafish.pdf
https://discovery.ucl.ac.uk/id/eprint/1470457/

المؤلفون: Miller, KA, Gordon, CT, Welfare, MF, Caruana, G, Bertram, JF, Bateman, JF, Farlie, PG

المساهمون: Kappen, C

Relation: pii: PONE-D-13-21478; Miller, K. A., Gordon, C. T., Welfare, M. F., Caruana, G., Bertram, J. F., Bateman, J. F. & Farlie, P. G. (2013). bfb, a Novel ENU-Induced blebs Mutant Resulting from a Missense Mutation in Fras1. PLOS ONE, 8 (10), https://doi.org/10.1371/journal.pone.0076342.; http://hdl.handle.net/11343/261169

الاتاحة: http://hdl.handle.net/11343/261169

المؤلفون: Caruana, G, Farlie, PG, Hart, AH, Bagheri-Fam, S, Wallace, MJ, Dobbie, MS, Gordon, CT, Miller, KA, Whittle, B, Abud, HE, Arkell, RM, Cole, TJ, Harley, VR, Smyth, IM, Bertram, JF

المساهمون: Veitia, RA

Relation: pii: PONE-D-12-31938; Caruana, G., Farlie, P. G., Hart, A. H., Bagheri-Fam, S., Wallace, M. J., Dobbie, M. S., Gordon, C. T., Miller, K. A., Whittle, B., Abud, H. E., Arkell, R. M., Cole, T. J., Harley, V. R., Smyth, I. M. & Bertram, J. F. (2013). Genome-Wide ENU Mutagenesis in Combination with High Density SNP Analysis and Exome Sequencing Provides Rapid Identification of Novel Mouse Models of Developmental Disease. PLOS ONE, 8 (3), https://doi.org/10.1371/journal.pone.0055429.; http://hdl.handle.net/11343/265429

الاتاحة: http://hdl.handle.net/11343/265429

المؤلفون: Castilla-Vallmanya L, Selmer KK, Dimartino C, Raquel Rabionet Janssen, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg-Vaisman DR, Amiel J, Urreizti R, Gordon CT

المصدر: GENETICS IN MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: craniofacial development, patent ductus arteriosus, TRAF7, intellectual disability, blepharophimosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8681f41dd6fc27fa740af813b6ca88f8
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17718

المؤلفون: Garcia-Barcelo, MM, Yu, KPT, Luk, HM, Gordon, CT, Fung, G, Oufadem, M, Amiel, J, Chung, BHY, Lo, FMI, Tan, TY

Relation: Clinical Dysmorphology; Clinical Dysmorphology, 2018, v. 27, p. 31-35; 35; 284954; 31; http://hdl.handle.net/10722/252709; 27

الاتاحة: https://doi.org/10.1097/MCD.0000000000000214
http://hdl.handle.net/10722/252709

المؤلفون: Chung, BHY, Amiel, J, Gordon, CT, Tan, TY, Oufadem, M, Chan, HB, Chu, WY, Fung, GPC

Relation: HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting; The Golden Jubilee Scientific Meeting of the Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, 29-30 November 2014.; 241857; http://hdl.handle.net/10722/207352

الاتاحة: http://hdl.handle.net/10722/207352

المؤلفون: Gordon CT, Cunniff CM, Green GE, Zechi-Ceide RM, Johnson JM, Henderson A, Petit F, Kokitsu-Nakata NM, Guion-Almeida ML, Munnich A, Cunningham ML, Lyonnet S, Amiel J

المصدر: American Journal of Medical Genetics Part A, July 2014

Relation: https://eprints.ncl.ac.uk/233862

الاتاحة: https://eprints.ncl.ac.uk/233862

المؤلفون: Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Ben Bdira E, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, Garcia-Minaur S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YMC, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J

المصدر: Journal of Medical Genetics, 01-03-2013

Relation: https://eprints.ncl.ac.uk/191449

الاتاحة: https://eprints.ncl.ac.uk/191449