-
1دورية أكاديمية
المؤلفون: Paul, Maimuna S, Michener, Sydney L, Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M, Rosenfeld, Jill A, Lerma, Vanesa C, Tran, Alyssa, Longley, Megan A, Lewis, Richard A, Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Mester, Jessica L, Guillen Sacoto, Maria J, Person, Richard, McDonnell, Pamela P, Cohen, Stacey R, Lusk, Laina, Cohen, Ana SA, Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran B, Karimiani, Ehsan G, Maroofian, Reza, Schaefer, Gerald B, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E, Carvill, Gemma L, Mefford, Heather, Acosta, MT, Adam, M, Adams, DR, Alvarez, RL, Alvey, J, Amendola, L, Andrews, A, Ashley, EA, Bacino, CA, Bademci, G, Balasubramanyam, A, Baldridge, D, Bale, J, Bamshad, M, Barbouth, D, Bayrak-Toydemir, P, Beck, A, Beggs, AH, Behrens, E, Bejerano, G, Bellen, HJ, Bennett, J, Berg-Rood, B, Bernstein, JA, Berry, GT, Bican, A, Bivona, S, Blue, E, Bohnsack, J, Bonner, D, Botto, L, Boyd, B, Briere, LC, Brown, G, Burke, EA, Burrage, LC, Butte, MJ, Byers, P, Byrd, WE, Carey, J, Carrasquillo, O, Cassini, T, Chang, TCP, Chanprasert, S, Undiagnosed Diseases Network, .
المصدر: American Journal of Human Genetics , 111 (1) pp. 96-118. (2024)
مصطلحات موضوعية: neurodevelopmental disorder, synaptic protein, active zone protein, Mendelian phenotypes, fruit flies
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10188776/1/A%20syndromic%20neurodevelopmental%20disorder%20caused%20by%20rare%20variants%20in%20PPFIA3.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10188776Test/
-
2دورية أكاديمية
المؤلفون: Johnson, BV, Kumar, R, Oishi, S, Alexander, S, Kasherman, M, Vega, MS, Ivancevic, A, Gardner, A, Domingo, D, Corbett, M, Parnell, E, Yoon, S, Oh, T, Lines, M, Lefroy, H, Kini, U, Van Allen, M, Grønborg, S, Mercier, S, Küry, S, Bézieau, S, Pasquier, L, Raynaud, M, Afenjar, A, Billette de Villemeur, T, Keren, B, Désir, J, Van Maldergem, L, Marangoni, M, Dikow, N, Koolen, DA, VanHasselt, PM, Weiss, M, Zwijnenburg, P, Sa, J, Reis, CF, López-Otín, C, Santiago-Fernández, O, Fernández-Jaén, A, Rauch, A, Steindl, K, Joset, P, Goldstein, A, Madan-Khetarpal, S, Infante, E, Zackai, E, Mcdougall, C, Narayanan, V, Ramsey, K, Mercimek-Andrews, S, Pena, L, Shashi, V, Schoch, K, Sullivan, JA, Acosta, MT, Adams, DR, Aday, A, Alejandro, ME, Allard, P, Ashley, EA, Azamian, MS, Bacino, CA, Bademci, G, Baker, E, Balasubramanyam, A, Baldridge, D, Barbouth, D, Batzli, GF, Beggs, AH, Bellen, HJ, Bernstein, JA, Berry, GT, Bican, A, Bick, DP, Birch, CL, Bivona, S, Bonnenmann, C, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, Brokamp, E, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Butte, MJ, Carrasquillo, O, Peter Chang, TC, Chao, HT, Clark, GD, Coakley, TR, Cobban, LA, Cogan, JD, Cole, FS, Colley, HA, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Wood, Stephen
مصطلحات موضوعية: Biological sciences, Biomedical and clinical sciences, Clinical sciences, Neurosciences, Psychology
العلاقة: Biological Psychiatry; Johnson, BV; Kumar, R; Oishi, S; Alexander, S; Kasherman, M; Vega, MS; Ivancevic, A; Gardner, A; Domingo, D; Corbett, M; Parnell, E; Yoon, S; Oh, T; Lines, M; Lefroy, H; Kini, U; Van Allen, M; Grønborg, S; Mercier, S; Küry, S; Bézieau, S; Pasquier, L; Raynaud, M; Afenjar, A; Billette de Villemeur, T; Keren, B; Désir, J; Van Maldergem, L; Marangoni, M; Dikow, N; Koolen, DA; VanHasselt, PM; Weiss, M; Zwijnenburg, P; Sa, J; Reis, CF; López-Otín, C; Santiago-Fernández, O; Fernández-Jaén, A; Rauch, A; Steindl, K; Joset, P; Goldstein, A; Madan-Khetarpal, S; Infante, E; Zackai, E; Mcdougall, C; Narayanan, V; Ramsey, K; Mercimek-Andrews, S; Pena, L; Shashi, V; Schoch, K; Sullivan, JA; Acosta, MT; Adams, DR; Aday, A; Alejandro, ME; Allard, P; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G; Baker, E; Balasubramanyam, A; Baldridge, D; Barbouth, D; Batzli, GF; Beggs, AH; Bellen, HJ; Bernstein, JA; Berry, GT; Bican, A; Bick, DP; Birch, CL; Bivona, S; Bonnenmann, C; Bonner, D; Boone, BE; Bostwick, BL; Briere, LC; Brokamp, E; Brown, DM; Brush, M; Burke, EA; Burrage, LC; Butte, MJ; Carrasquillo, O; Peter Chang, TC; Chao, HT; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Cole, FS; Colley, HA; Cooper, CM; Cope, H; Craigen, WJ; D'Souza, P, Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling, Biological Psychiatry, 2019; http://hdl.handle.net/10072/386708Test
-
3
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
instnameمصطلحات موضوعية: craniofacial development, patent ductus arteriosus, TRAF7, intellectual disability, blepharophimosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8681f41dd6fc27fa740af813b6ca88f8Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17718Test -
4دورية 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 -
5دورية 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
-
6
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