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1دورية أكاديمية
المؤلفون: Keywan C, Poduri AH, Goldstein RD, Holm IA
المصدر: The Application of Clinical Genetics, Vol Volume 14, Pp 61-76 (2021)
مصطلحات موضوعية: sids, suid, sudden infant death, gene, genetic, review, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Vivekanandarajah, A, Nelson, ME, Kinney, HC, Elliott, AJ, Folkerth, RD, Tran, H, Cotton, J, Jacobs, P, Minter, M, McMillan, K, Duncan, JR, Broadbelt, KG, Schissler, K, Odendaal, HJ, Angal, J, Brink, L, Burger, EH, Coldrey, JA, Dempers, J, Boyd, TK, Fifer, WP, Geldenhuys, E, Groenewald, C, Holm, IA, Myers, MM, Randall, B, Schubert, P, Sens, MA, Wright, CA, Roberts, DJ, Nelsen, L, Wadee, S, Zaharie, D, Haynes, RL, PASS Network
العلاقة: Vivekanandarajah, A., Nelson, M. E., Kinney, H. C., Elliott, A. J., Folkerth, R. D., Tran, H., Cotton, J., Jacobs, P., Minter, M., McMillan, K., Duncan, J. R., Broadbelt, K. G., Schissler, K., Odendaal, H. J., Angal, J., Brink, L., Burger, E. H., Coldrey, J. A., Dempers, J. ,. PASS Network, (2021). Nicotinic Receptors in the Brainstem Ascending Arousal System in SIDS With Analysis of Pre-natal Exposures to Maternal Smoking and Alcohol in High-Risk Populations of the Safe Passage Study. Front Neurol, 12, pp.636668-. https://doi.org/10.3389/fneur.2021.636668Test.; http://hdl.handle.net/11343/304626Test
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3دورية أكاديمية
المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM
المصدر: Genome biology. 15(3):R53
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Smith, ME, Sanderson, SC, Brothers, KB, Myers, MF, McCormick, J, Aufox, S, Shrubsole, MJ, Garrison, NA, Mercaldo, ND, Schildcrout, JS, Clayton, EW, Antommaria, AHM, Basford, M, Brilliant, M, Connolly, JJ, Fullerton, SM, Horowitz, CR, Jarvik, GP, Kaufman, D, Kitchner, T, Li, R, Ludman, EJ, McCarty, C, McManus, V, Stallings, S, Williams, JL, Holm, IA
المصدر: BMC Medical Research Methodology , 16 , Article 162. (2016)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Health Care Sciences & Services, Survey, Consent, Multi-Site, Genomics, Institutional Review Board, Cognitive Interviews, Pilot, Informed-Consent, Emerge Consortium, Genetic Research, Genomic Research, Perspectives, Participants, Preferences, Population, Experience, Samples
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1547155/1/Sanderson_art%25253A10.1186%25252Fs12874-016-0263-7.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1547155Test/
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5دورية أكاديمية
المؤلفون: Bush, WS, Crosslin, DR, Owusu‐Obeng, A, Wallace, J, Almoguera, B, Basford, MA, Bielinski, SJ, Carrell, DS, Connolly, JJ, Crawford, D, Doheny, KF, Gallego, CJ, Gordon, AS, Keating, B, Kirby, J, Kitchner, T, Manzi, S, Mejia, AR, Pan, V, Perry, CL, Peterson, JF, Prows, CA, Ralston, J, Scott, SA, Scrol, A, Smith, M, Stallings, SC, Veldhuizen, T, Wolf, W, Volpi, S, Wiley, K, Li, R, Manolio, T, Bottinger, E, Brilliant, MH, Carey, D, Chisholm, RL, Chute, CG, Haines, JL, Hakonarson, H, Harley, JB, Holm, IA, Kullo, IJ, Jarvik, GP, Larson, EB, McCarty, CA, Williams, MS, Denny, JC, Rasmussen‐Torvik, LJ, Roden, DM
المساهمون: Cincinnati Children's Hospital Medical Center/Boston Children's Hospital, Children's Hospital of Philadelphia, Essential Institute of Rural Health, Marshfield Clinic Research Foundation and Pennsylvania State University, Geisinger Clinic, Group Health Cooperative/University of Washington, Mayo Clinic, Icahn School of Medicine at Mount Sinai, Northwestern University, Vanderbilt University Medical Center, Vanderbilt University Medical Center serving as the Coordinating Center, Pharmacogenomics Research Network, Rochester Epidemiology Project
المصدر: Clinical Pharmacology & Therapeutics ; volume 100, issue 2, page 160-169 ; ISSN 0009-9236 1532-6535
الإتاحة: https://doi.org/10.1002/cpt.350Test
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6دورية أكاديمية
المؤلفون: Cheng, HD, Tirosh, I, de Haan, N, Stockmann, H, Adamczyk, B, McManus, CA, O'Flaherty, R, Greville, G, Saldova, R, Bonilla, FA, Notarangelo, LD, Driessen, Gertjan, Holm, IA, Rudd, PM, Wuhrer, M, Ackerman, ME, Nigrovic, PA
المصدر: Cheng , HD , Tirosh , I , de Haan , N , Stockmann , H , Adamczyk , B , McManus , CA , O'Flaherty , R , Greville , G , Saldova , R , Bonilla , FA , Notarangelo , LD , Driessen , G , Holm , IA , Rudd , PM , Wuhrer , M , Ackerman , ME & Nigrovic , PA 2020 , ' IgG Fc glycosylation as an axis of humoral immunity in childhood ' , Journal of Allergy and Clinical Immunology , vol. 145 , no. 2 , pp. 710-713 ....
الإتاحة: https://doi.org/10.1016/j.jaci.2019.10.012Test
https://pure.eur.nl/en/publications/fd40a177-628c-4591-a2b8-ceb1aafcf312Test -
7دورية أكاديمية
المؤلفون: Bowen, ME, Boyden, ED, Holm, IA, Campos-Xavier, B, Bonafe, L, Superti-Furga, A, Ikegawa, S, Cormier-Daire, V, Bovee, JV, Pansuriya, TC, de Sousa, SB, Savarirayan, R, Andreucci, E, Vikkula, M, Garavelli, L, Pottinger, C, Ogino, T, Sakai, A, Regazzoni, BM, Wuyts, W, Sangiorgi, L, Pedrini, E, Zhu, M, Kozakewich, HP, Kasser, JR, Seidman, JG, Kurek, KC, Warman, ML
المساهمون: Wilkie, AOM
العلاقة: Bowen, M. E., Boyden, E. D., Holm, I. A., Campos-Xavier, B., Bonafe, L., Superti-Furga, A., Ikegawa, S., Cormier-Daire, V., Bovee, J. V., Pansuriya, T. C., de Sousa, S. B., Savarirayan, R., Andreucci, E., Vikkula, M., Garavelli, L., Pottinger, C., Ogino, T., Sakai, A., Regazzoni, B. M. ,. Warman, M. L. (2011). Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome. PLOS GENETICS, 7 (4), https://doi.org/10.1371/journal.pgen.1002050Test.; http://hdl.handle.net/11343/264146Test
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8دورية أكاديمية
المؤلفون: Machol, K, Rousseau, J, Ehresmann, S, Garcia, T, Nguyen, TTM, Spillmann, RC, Sullivan, JA, Shashi, V, Jiang, YH, Stong, N, Fiala, E, Willing, M, Pfundt, R, Kleefstra, T, Cho, M T, McLaughlin, H, Piera, MR, Orellana, C, Martinez, F, Caro-Llopis, A, Monfort, S, Roscioli, T, Nixon, CY, Buckley, MF, Turner, A, Jones, WD, van Hasseit, PM, Hofstede, FC, van Gassen, K L I, Brooks, Alice, van Slegtenhorst, Marjon, Lachlan, K, Sebastian, J, Madan-Khetarpal, S, Sonal, D, Sakkubai, N, Thevenon, J, Faivre, L, Maurel, A, Petrovski, S, Krantz, ID, Tarpinian, JM, Rosenfeld, JA, Lee, BH, Campeau, PM, Adams, DR, Alejandro, ME, Allard, P, Azamian, MS, Bacino, CA, Balasubramanyam, A, Barseghyan, H, Batzli, GF, Beggs, AH, Behnam, B, Bican, A, Bick, DP, Birch, CL, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Chen, S, Clark, GD, Coakley, TR, Cogan, JD, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Davids, M, Dayal, JG, Dell'Angelica, EC, Dhar, SU, Dillon, A, Dipple, KM, Donnell-Fink, LA, Dorrani, N, Dorset, DC, Douine, ED, Draper, DD, Eckstein, DJ, Emrick, LT, Eng, CM, Eskin, A, Esteves, C, Estwick, T, Ferreira, C, Fogel, BL, Friedman, ND, Gahl, WA, Glanton, E, Godfrey, RA, Goldstein, DB, Gould, SE, Gourdine, JPF, Groden, CA, Gropman, AL, Haendel, M, Hamid, R, Hanchard, NA, Handley, LH, Herzog, MR, Holm, IA, Hom, J, Howerton, EM, Huang, Y, Jacob, HJ, Jain, M, Johnston, JM, Jones, AL, Kohane, IS, Krasnewich, DM, Krieg, EL, Krier, JB, Lalani, SR, Lalani, Lau, CC, Lazar, J, Lee, H, Levy, SE, Lewis, RA, Lincoln, SA, Lipson, A, Loo, SK, Loscalzo, J, Maas, RL, Macnamara, EF, MacRae, CA, Maduro, VV, Majcherska, MM, Malicdan, MCV, Mamounas, LA, Manolio, TA, Markello, TC, Marom, R, Martinez-Agosto, JA, Marwaha, S, May, T, McConkie-Rosell, A, McCormack, CE, McCray, AT, Might, M, Moretti, PM, Morimoto, M, Mulvihill, JJ, Murphy, JL, Muzny, DM, Nehrebecky, ME, Nelson, SF, Newberry, JS, Newman, JH, Nicholas, SK, Novacic, D, Orange, JS, Pallais, JC, Palmer, CGS, Papp, JC, Parker, NH, Pena, LDM, Phillips, JA, Posey, JE, Postlethwait, JH, Potocki, L, Pusey, BN, Reuter, CM, Robertson, AK, Rodan, LH, Sampson, JB, Samson, SL, Schoch, K, Schroeder, MC, Scott, DA, Sharma, P, Signer, R, Silverman, EK, Sinsheimer, JS, Smith, KS, Splinter, K, Stoler, JM, Sweetser, DA, Tifft, CJ, Toro, C, Tran, AA, Urv, TK, Valivullah, ZM, Vilain, E, Vogel, TP, Wahl, CE, Walley, NM, Walsh, CA, Ward, PA, Waters, KM, Westerfield, M, Wise, AL, Wolfe, LA, Worthey, EA, Yamamoto, S, Yang, YP, Yu, GY, Zastrow, DB, Zheng, A
المصدر: Machol , K , Rousseau , J , Ehresmann , S , Garcia , T , Nguyen , TTM , Spillmann , RC , Sullivan , JA , Shashi , V , Jiang , YH , Stong , N , Fiala , E , Willing , M , Pfundt , R , Kleefstra , T , Cho , M T , McLaughlin , H , Piera , MR , Orellana , C , Martinez , F , Caro-Llopis , A , Monfort , S , Roscioli , T , Nixon , CY , Buckley , MF , Turner , ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
الإتاحة: https://doi.org/10.1016/j.ajhg.2018.11.007Test
https://pure.eur.nl/en/publications/a9dc94a9-e8cc-40fb-b674-06d6783c3f8fTest -
9دورية أكاديمية
المؤلفون: Kelly, M, Park, M, Mihalek, I, Rochtus, A, Gramm, M, Perez-Palma, E, Axeen, ET, Hung, CY, Olson, H, Swanson, L, Anselm, I, Briere, LC, High, FA, Sweetser, DA, Kayani, S, Snyder, M, Calvert, S, Scheffer, IE, Yang, E, Waugh, JL, Lal, D, Bodamer, O, Poduri, A, Adams, DR, Aday, A, Alejandro, ME, Allard, P, Ashley, EA, Azamian, MS, Bacino, CA, Baker, E, Balasubramanyam, A, Barseghyan, H, Batzli, GF, Beggs, AH, Behnam, B, Bellen, HJ, Bernstein, JA, Bican, A, Bick, DP, Birch, CL, Bonner, D, Boone, BE, Bostwick, BL, Brokamp, E, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Butte, MJ, Chen, S, Clark, GD, Coakley, TR, Cogan, JD, Colley, HA, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Davids, M, Davidson, JM, Dayal, JG, Dell'Angelica, EC, Dhar, SU, Dipple, KM, Donnell-Fink, LA, Dorrani, N, Dorset, DC, Douine, ED, Draper, DD, Dries, AM, Eckstein, DJ, Emrick, LT, Eng, CM, Enns, G-GM, Eskin, A, Esteves, C, Estwick, T, Fairbrother, L, Fernandez, L, Ferreira, C, Fieg, EL, Fisher, PG, Fogel, BL, Friedman, ND, Gahl, WA, Glanton, E, Godfrey, RA, Goldman, AM, Goldstein, DB, Gould, SE, Gourdine, J-PF, Groden, CA, Gropman, AL, Haendel, M, Hamid, R, Hanchard, NA, High, F, Holm, IA, Horn, J, Howerton, EM, Huang, Y, Jamal, F, Jiang, Y-H, Johnston, JM, Jones, AL, Karaviti, L, Koeller, DM, Kohane, IS, Kohler, JN, Konick, S, Koziura, M, Krasnewich, DM, Krier, JB, Kyle, JE, Lalani, SR, Lau, CC, Lazar, J, LeBlanc, K, Lee, BH, Lee, H, Levy, SE, Lewis, RA, Lincoln, SA, Loo, SK, Loscalzo, J, Maas, RL, Macnamara, EF, MacRae, CA, Maduro, VV, Majch-erska, MM, Malicdan, MC, Mamounas, LA, Manolio, TA, Markello, TC, Marom, R, Martin, MG, Martinez-Agosto, JA, Mar-waha, S, May, T, McConkie-Rosell, A, McCormack, CE, McCray, AF, Merker, JD, Metz, TO, Might, M, Moretti, PM, Morimoto, M, Mulvihill, JJ, Murdock, DR, Murphy, JL, Muzny, DM, Nehrebecky, ME, Nelson, SF, Newberry, JS, Newman, JH, Nicholas, SK, Novacic, D, Orange, JS, Orengo, JP, Pallais, JC, Palmer, CGS, Papp, JC, Parker, NH, Pena, LDM, Phillips, JA, Posey, JE, Postlethwait, JH, Potocki, L, Pusey, BN, Reuter, CM, Rives, L, Robertson, AK, Rodan, LH, Rosenfeld, JA, Sampson, JB, Samson, SL, Schoch, K, Scott, DA, Shakachite, L, Sharma, P, Shashi, V, Signer, R, Silverman, EK, Sinsheimer, JS, Smith, KS, Spillmann, RC, Stoler, JM, Stong, N, Sullivan, JA, Tan, QK-G, Tifft, CJ, Toro, C, Tran, AA, Urv, TK, Vilain, E, Vogel, TP, Waggott, DM, Wahl, CE, Walker, M, Walley, NM, Walsh, CA, Wan, J, Wangler, MF, Ward, PA, Waters, KM, Webb-Robertson, B-JM, Westerfield, M, Wheeler, MT, Wise, AL, Wolfe, LA, Worthey, EA, Yamamoto, S, Yang, Y, Yoon, AJ, Yu, G, Zastrow, DB, Zhao, C, Zheng, A
العلاقة: Kelly, M., Park, M., Mihalek, I., Rochtus, A., Gramm, M., Perez-Palma, E., Axeen, E. T., Hung, C. Y., Olson, H., Swanson, L., Anselm, I., Briere, L. C., High, F. A., Sweetser, D. A., Kayani, S., Snyder, M., Calvert, S., Scheffer, I. E., Yang, E. ,. Zheng, A. (2019). Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. EPILEPSIA, 60 (3), pp.406-418. https://doi.org/10.1111/epi.14653Test.; http://hdl.handle.net/11343/285365Test
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المؤلفون: Palmer, CGS, McConkie-Rosell, A, Holm, IA, LeBlanc, K, Sinsheimer, JS, Briere, LC, Dorrani, N, Herzog, MR, Lincoln, S, Schoch, K, Spillmann, RC, Brokamp, E, Network, UD
المصدر: Journal of genetic counseling, vol 27, iss 5
Palmer, CGS; McConkie-Rosell, A; Holm, IA; LeBlanc, K; Sinsheimer, JS; Briere, LC; et al.(2018). Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network. JOURNAL OF GENETIC COUNSELING, 27(5), 1087-1101. doi: 10.1007/s10897-018-0228-6. UCLA: Retrieved from: http://www.escholarship.org/uc/item/22q6q61hTestمصطلحات موضوعية: Parents, Adult, Male, Decision Making, Clinical Sciences, Pilot Projects, Genetic Counseling, Clinical Research, Surveys and Questionnaires, Diagnosis, Humans, Patient Reported Outcome Measures, Adaptation, Child, Genetics & Heredity, Undiagnosed condition, Uncertainty, Reproducibility of Results, Infant, Disease Management, Undiagnosed Diseases Network, Support groups, Power, Psychological, Female, Empowerment, Undiagnosed disease
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::29756da8ceb75a1a6596314c16fa16c9Test
https://escholarship.org/uc/item/22q6q61hTest
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