المؤلفون: Kohonen-Corish, MRJ, Al-Aama, JY, Auerbach, AD, Axton, M, Barash, CI, Bernstein, I, Beroud, C, Burn, J, Cunningham, F, Cutting, GR, den Dunnen, JT, Greenblatt, MS, Kaput, J, Katz, M, Lindblom, A, Macrae, F, Maglott, D, Moslein, G, Povey, S, Ramesar, R, Richards, S, Seminara, D, Sobrido, MJ, Tavtigian, S, Taylor, G, Vihinen, M, Winship, I, Cotton, RGH

المصدر: Human mutation. 31(12):1374-1381

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:121937048

المؤلفون: Dufner de Almeida, Luiz, Nanhoe, Santoesha, Zonta, A, Hosseinzadeh, M, Kom-Gortat, RP (Regina), Elfferich, Peter, Schaaf, Gerben, Kenter, Annegien, Kümmel, D, Migone, N, Povey, S, Ekong, R, Nellist, Mark

المصدر: Dufner de Almeida , L , Nanhoe , S , Zonta , A , Hosseinzadeh , M , Kom-Gortat , RP , Elfferich , P , Schaaf , G , Kenter , A , Kümmel , D , Migone , N , Povey , S , Ekong , R & Nellist , M 2020 , ' Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings ' , Human Mutation , vol. 41 , pp. 759-773 . https://doi.org/10.1002/humu.23963

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC028201, name=EMC MGC-02-82-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/c85d13ab-9bc2-477e-8632-14b3c717eb7c
https://doi.org/10.1002/humu.23963
https://pure.eur.nl/ws/files/48294733/Repub_122933_O-A.pdf
http://hdl.handle.net/1765/122933

المؤلفون: Dufner Almeida, LG, Nanhoe, S, Zonta, A, Hosseinzadeh, M, Kom-Gortat, R, Elfferich, P, Schaaf, G, Kenter, A, Kümmel, D, Migone, N, Povey, S, Ekong, R, Nellist, M

المصدر: Human Mutation , 41 (4) pp. 759-773. (2020)

مصطلحات موضوعية: TSC2, CRISPR/Cas9, TORC1, Tuberous sclerosis complex, VUS, functional assay

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10087663/1/Ekong_humu.23963.pdf; https://discovery.ucl.ac.uk/id/eprint/10087663/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10087663/1/Ekong_humu.23963.pdf
https://discovery.ucl.ac.uk/id/eprint/10087663/

المؤلفون: POVEY, S, ATTWOOD, J, CHADWICK, B, FREZAL, J, HAINES, JL, KNOWLES, M, KWIATKOWSKI, DJ, OLOPADE, OI, SLAUGENHAUPT, S, SPURR, NK, SMITH, M, STEEL, K, WHITE, JA, PERICAK‐VANCE, MA

المصدر: Annals of Human Genetics. 61(3)

مصطلحات موضوعية: Genetics, Animals, Chromosome Aberrations, Chromosome Disorders, Chromosome Mapping, Chromosomes, Human, Pair 9, Computational Biology, Humans, Mice, Rats, Species Specificity, algorithm, animal cell, basal cell carcinoma, bladder cancer, cancer genetics, cardiomyopathy, chromosome 9, chromosome analysis, chromosome map, conference paper, consensus sequence, data analysis, ehlers danlos syndrome, friedreich ataxia, gene location, gene locus, gene mapping, hearing loss, human, human cell, hypoplasia, lymphatic leukemia, marker gene, meiosis, mouse, muscular dystrophy, neuropathy, nomenclature, nonhuman, priority journal, sex determination, tuberous sclerosis, tumor suppressor gene, workshop, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/34z9d12g

المؤلفون: Povey, S, Attvvood, J, Chadwick, B, Frezal, J, Haines, JL, Knowles, M, Kwiatkowski, DJ, Olopade, OI, Slaugenhaupt, S, Spurr, NK, Smith, M, Steel, K, White, JA, Pericak-Vance, MA

المصدر: Annals of Human Genetics. 61(3)

مصطلحات موضوعية: Genetics, algorithm, animal cell, basal cell carcinoma, bladder cancer, cancer genetics, cardiomyopathy, chromosome 9, chromosome analysis, chromosome map, conference paper, consensus sequence, data analysis, ehlers danlos syndrome, friedreich ataxia, gene location, gene locus, gene mapping, hearing loss, human, human cell, hypoplasia, lymphatic leukemia, marker gene, meiosis, mouse, muscular dystrophy, neuropathy, nomenclature, nonhuman, priority journal, sex determination, tuberous sclerosis, tumor suppressor gene, workshop, Genetics & Heredity, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/34z9d12g

المؤلفون: Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ, Turki SA, Anderson CA, Anney R, Antony D, Artigas MS, Ayub M, Bala S, Barrett JC, Barroso I, Beales P, Bentham J, Bhattacharya S, Birney E, Blackwood D, Bobrow M, Bochukova E, Bolton PF, Bounds R, Boustred C, Breen G, Calissano M, Carss K, Charlton R, Chatterjee K, Chen L, Ciampi A, Cirak S, Clapham P, Clement G, Coates G, Cocca M, Collier DA, Cosgrove C, Cox T, Craddock N, Crooks L, Curran S, Curtis D, Daly A, Danecek P, Day INM, Day-Williams A, Dominiczak A, Down T, Du Y, Dunham I, Durbin R, Edkins S, Ekong R, Ellis P, Evans DM, Farooqi IS, Fitzpatrick DR, Flicek P, Floyd J, Foley AR, Franklin CS, Futema M, Gallagher L, Gaunt TR, Geihs M, Geschwind D, Greenwood CMT, Griffin H, Grozeva D, Guo X, Gurling H, Hart D, Hendricks AE, Holmans P, Howie B, Huang J, Huang L, Hubbard T, Humphries SE, Hurles ME, Hysi P, Jackson DK, Jamshidi Y, Joyce C, Karczewski KJ, Kaye J, Keane T, Kemp JP, Kennedy K, Kent A, Keogh J, Khawaja F, van Kogelenberg M, Kolb-Kokocinski A, Lachance G, Langford C, Lawson D, Lee I, Lek M, Li R, Li Y, Liang J, Lin H, Liu R, Lonnqvist J, Lopes LR, Lopes M, MacArthur DG, Mangino M, Marchini J, Marenne G, Maslen J, Mathieson I, McCarthy S, McGuffin P, McIntosh AM, McKechanie AG, McQuillin A, Memari Y, Metrustry S, Migone N, Mitchison HM, Moayyeri A, Morris A, Morris J, Muddyman D, Muntoni F, Northstone K, O'Donovan MC, O'Rahilly S, Onoufriadis A, Oualkacha K, Owen MJ, Palotie A, Panoutsopoulou K, Parker V, Parr JR, Paternoster L, Paunio T, Payne F, Payne SJ, Perry JRB, Pietilainen O, Plagnol V, Pollitt RC, Porteous DJ, Povey S, Quail MA, Quaye L, Raymond FL, Rehnstrom K, Richards JB, Ridout CK, Ring S, Ritchie GRS, Roberts N, Robinson RL, Savage DB, Scambler P, Schiffels S, Schmidts M, Schoenmakers N, Scott RH, Semple RK, Serra E, Sharp SI, Shaw A, Shihab HA, Shin S-Y, Skuse D, Small KS, Smee C, Smith BH, Soranzo N, Southam L, Spasic-Boskovic O, Spector TD, St Clair D, Stalker J, Stevens E, Sun J, Surdulescu G, Suvisaari J, Syrris P, Taylor R, Tian J, Tobin MD, Valdes AM, Vandersteen AM, Vijayarangakannan P, Visscher PM, Wain LV, Walters JTR, Wang G, Wang J, Wang Y, Ward K, Wheeler E, Whyte T, Williams HJ, Williamson KA, Wilson C, Wilson SG, Wong K, Xu CJ, Yang J, Zhang F, Zhang P, Zheng H-F, Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bonnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B

المصدر: Nature Communications, 1 December 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/254798; https://eprints.ncl.ac.uk/fulltext.aspx?url=254798/F322CCD0-A75B-412E-8DC3-180BF7E0342D.pdf&pub_id=254798

الاتاحة: https://eprints.ncl.ac.uk/254798

المؤلفون: Haworth, S., Shapland, C.Y., Hayward, C. (Caroline), Prins, B.P. (Bram), Felix, J.F. (Janine), Medina-Gomez, M.C. (Carolina), Rivadeneira Ramirez, F. (Fernando), Wang, C., Ahluwalia, TS, Vrijheid, M. (Martine), Guxens Junyent, M. (Mònica), Sunyer, J. (Jordi), Tachmazidou, I, Walter, K., Iotchkova, V, Jackson, A.U. (Anne), Cleal, L., Huffmann, J., Min, J. (Josine), Sass, L., Timmers, P, Al Turki, S., Anderson, CA, Anney, R. (Richard), Antony, D, Soler Artigas, M. (Maria), Ayub, M, Bala, S, Barrett, JC, Barroso, I.E. (Inês), Beales, P., Bentham, J, Bhattacharya, S. (Shoumo), Birney, E. (Ewan), Blackwood, D, Bobrow, M, Bochukova, E, Bolton, PF, Bounds, R, Boustred, C, Breen, G. (Gerome), Calissano, M, Carss, K, Charlton, R, Chatterjee, K. (Krishna), Chen, L. (Leslie), Ciampi, A. (Antonio), Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, D.A. (David), Cosgrove, C, Cox, T. (Tessa), Craddock, N.J. (Nick), Crooks, L, Curran, S, Curtis, D. (David), Daly, A, Danecek, P, Day, I.N.M. (Ian), Day-Williams, A, Dominiczak, A. (Anna), Down, T, Li, Y. (Yingrui), Dunham, D.M. (David), Durbin, R, Edkins, T. (Ted), Ekong, R. (Rosemary), Ellis, P. (Paul), Evans, D.M. (David), Farooqi, I.S. (Sadaf), Fitzpatrick, D.R. (David), Flicek, P, Floyd, J. (Jamie), Foley, AR, Franklin, C.S. (Christopher), Futema, M, Gallagher, L. (Louise), Gaunt, T.R. (Tom), Geihs, M, Geschwind, D., Greenwood, J.P. (John), Griffin, H, Grozeva, D. (Detelina), Guo, X.S., Guo, X. (Xiuqing), Gurling, H. (Hugh), Hart, D.J. (Deborah), Hendricks, AE, Holmans, P.A. (Peter), Howie, B, Huang, J. (Jian), Huang, L.R., Hubbard, T., Humphries, S.E. (Steve), Hurles, M.E. (Matthew), Hysi, P.G. (Pirro), Jackson, DK, Jamshidi, Y. (Yalda), Joyce, C, Karczewski, KJ, Kaye, J. (Jane), Keane, T, Kemp, J.P., Kennedy, K. (Karen), Kent, A. (Alistair), Keogh, J, Khawaja, F, van Kogelenberg, M., Kolb-Kokocinski, A, Lachance, G, Langford, C. (Cordelia), Lawson, D, Lee, I. van der, Lek, M, Li, R. (Rui), Li, Y.R. (Yun), Liang, J.Q., Lin, H., Liu, R, Lonnqvist, J, Lopes, LR, Lopes, M., MacArthur, DG, Mangino, M. (Massimo), Marchini, J. (Jonathan), Marenne, G., Maslen, J., Mathieson, I. (Iain), McCarthy, S. (Sean), Mcguffin, P. (Peter), Mcintosh, A.M. (Andrew), McKechanie, AG, McQuillin, A. (Andrew), Memari, Y, Metrustry, S. (Sarah), Migone, N, Mitchison, H.M. (Hannah), Moayyeri, A. (Alireza), Morris, A.D. (Andrew), Morris, J, Muddyman, D, Muntoni, F., Northstone, K. (Kate), O'Donovan, M. (Michael), O'Rahilly, S. (Stephen), Onoufriadis, A, Oualkacha, K., Owen, M.J., Palotie, A. (Aarno), Panoutsopoulou, K, Parker, V., Parr, D., Paternoster, L. (Lavinia), Paunio, T, Payne, F. (Felicity), Payne, SJ, Perry, J.B. (John), Pietiläinen, O.P.H. (Olli), Plagnol, V, Pollitt, RC, Porteous, D.J. (David J.), Povey, S. (Sue), Quail, MA, Quaye, L. (Lydia), Raymond, FL, Rehnström, K. (Karola), Richards, J.B. (Brent), Ridout, CK, Ring, S.M. (Susan), Ritchie, GRS, Roberts, N. (Nicola), Robinson, RL, Savage, D.B. (David), Scambler, P., Schiffels, S, Schmidts, M, Schoenmakers, N. (Nadia), Scott, RH, Semple, R.K. (Robert), Serra, E, Sharp, S.I., Shaw, A. (Alison), Shihab, HA, Shin, S.-Y., Skuse, D, Small, K.S. (Kerrin), Smee, C, Smith, B.H. (Blair), Soranzo, N. (Nicole), Southam, L. (Lorraine), Spasic-Boskovic, O, Spector, T.D. (Timothy), St. Clair, D. (David), Stalker, J, Stevens, E, Sun, J.P., Surdulescu, G, Suvisaari, J. (Jaana), Syrris, P, R. Taylor (Rohan), Tian, J., Tobin, M.D. (Martin), Valdes, A.M. (Ana Maria), Vandersteen, AM, Vijayarangakannan, P, Visscher, P.M. (Peter), Wain, L.V. (Louise), Walters, JTR, Wang, G. B., Wang, J. (Jinxia), Wang, Y. (Ying), Ward, K, Wheeler, E. (Eleanor), Whyte, T, Williams, HJ, Williamson, K.A., Wilson, C, Wilson, S.G. (Scott), Wong, K. (Kenny), Xu, CJ, Yang, J. (Jian), Zhang, F. (Feng), Zhang, P.B., Zheng, H.-F. (Hou-Feng), Smith, A.V. (Davey), Fisher, SE, Wilson, J.F. (James F), Cole, T.J. (T.), Fernandez-Orth, D., Bønnelykke, K. (Klaus), Bisgaard, H. (Hans), Pennell, C.E. (Craig), Jaddoe, V.W.V. (Vincent), Dedoussis, G, Timpson, N.J. (Nicholas), Zeggini, E. (Eleftheria), Vitart, V. (Veronique), Pourcain, B.S. (Beate)

المصدر: Nature Communications vol. 10

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/114894; urn:hdl:1765/114894

الاتاحة: http://repub.eur.nl/pub/114894
https://doi.org/10.1038/s41467-018-07863-x

المؤلفون: Haworth, S, Shapland, CY, Hayward, C, Prins, BP, Felix, JF, Medina-Gomez, C, Rivadeneira, F, Wang, C, Ahluwalia, TS, Vrijheid, M, Guxens, M, Sunyer, J, Tachmazidou, I, Walter, K, Iotchkova, V, Jackson, A, Cleal, L, Huffmann, J, Min, JL, Sass, L, Timmers, PRHJ, Al Turki, S, Anderson, CA, Anney, R, Antony, D, Artigas, MS, Ayub, M, Bala, S, Barrett, JC, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, PF, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, DA, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Danecek, P, Day, INM, Day-Williams, A, Dominiczak, A, Down, T, Du, Y, Dunham, I, Durbin, R, Edkins, S, Ekong, R, Ellis, P, Evans, DM, Farooqi, IS, Fitzpatrick, DR, Flicek, P, Floyd, J, Foley, AR, Franklin, CS, Futema, M, Gallagher, L, Gaunt, TR, Geihs, M, Geschwind, D, Greenwood, CMT, Griffin, H, Grozeva, D, Guo, X, Gurling, H, Hart, D, Hendricks, AE, Holmans, P, Howie, B, Huang, J, Huang, L, Hubbard, T, Humphries, SE, Hurles, ME, Hysi, P, Jackson, DK, Jamshidi, Y, Joyce, C, Karczewski, KJ, Kaye, J, Keane, T, Kemp, JP, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, van Kogelenberg, M, Kolb-Kokocinski, A, Lachance, G, Langford, C, Lawson, D, Lee, I, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lonnqvist, J, Lopes, LR, Lopes, M, MacArthur, DG, Mangino, M, Marchini, J, Marenne, G, Maslen, J, Mathieson, I, McCarthy, S, McGuffin, P, McIntosh, AM, McKechanie, AG, McQuillin, A, Memari, Y, Metrustry, S, Migone, N, Mitchison, HM, Moayyeri, A, Morris, A, Morris, J, Muddyman, D, Muntoni, F, Northstone, K, O'Donovan, MC, O'Rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, MJ, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, JR, Paternoster, L, Paunio, T, Payne, F, Payne, SJ, Perry, JRB, Pietilainen, O, Plagnol, V, Pollitt, RC, Porteous, DJ, Povey, S, Quail, MA, Quaye, L, Raymond, FL, Rehnstrom, K, Richards, JB, Ridout, CK, Ring, S, Ritchie, GRS, Roberts, N, Robinson, RL, Savage, DB, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, RH, Semple, RK, Serra, E, Sharp, SI, Shaw, A, Shihab, HA, Shin, S-Y, Skuse, D, Small, KS, Smee, C, Smith, BH, Soranzo, N, Southam, L, Spasic-Boskovic, O, Spector, TD, St Clair, D, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Taylor, R, Tian, J, Tobin, MD, Valdes, AM, Vandersteen, AM, Vijayarangakannan, P, Visscher, PM, Wain, LV, Walters, JTR, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whyte, T, Williams, HJ, Williamson, KA, Wilson, C, Wilson, SG, Wong, K, Xu, C, Yang, J, Zhang, F, Zhang, P, Zheng, H-F, Smith, GD, Fisher, SE, Wilson, JF, Cole, TJ, Fernandez-Orth, D, Bonnelykke, K, Bisgaard, H, Pennell, CE, Jaddoe, VWV, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V, St Pourcain, B

Relation: pii: 10.1038/s41467-018-07863-x; Haworth, S., Shapland, C. Y., Hayward, C., Prins, B. P., Felix, J. F., Medina-Gomez, C., Rivadeneira, F., Wang, C., Ahluwalia, T. S., Vrijheid, M., Guxens, M., Sunyer, J., Tachmazidou, I., Walter, K., Iotchkova, V., Jackson, A., Cleal, L., Huffmann, J., Min, J. L. ,. St Pourcain, B. (2019). Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-018-07863-x.; http://hdl.handle.net/11343/253774

الاتاحة: http://hdl.handle.net/11343/253774

المؤلفون: Yang, Y, van der Klaauw, AA, Zhu, L, Cacciottolo, TM, He, Y, Stadler, LKJ, Wang, C, Xu, P, Saito, K, Hinton, A, Yan, X, Keogh, JM, Henning, E, Banton, MC, Hendricks, AE, Bochukova, EG, Mistry, V, Lawler, KL, Liao, L, Xu, J, O'Rahilly, S, Tong, Q, Barroso, I, O'Malley, BW, Farooqi, IS, Xu, Y, Balasubramanian, S, Clapham, P, Coates, G, Cox, T, Daly, A, Danecek, P, Du, Y, Durbin, R, Edkins, S, Ellis, P, Flicek, P, Guo, X, Huang, L, Jackson, DK, Joyce, C, Keane, T, Kolb-Kokocinski, A, Langford, C, Li, Y, Liang, J, Lin, H, Liu, R, Maslen, J, McCarthy, S, Muddyman, D, Quail, MA, Stalker, J, Sun, J, Tian, J, Wang, G, Wang, J, Wang, Y, Wong, K, Zhang, P, Birney, E, Boustred, C, Brion, M-J, Chen, L, Clement, G, Smith, GD, Day, INM, Day-Williams, A, Down, T, Dunham, I, Evans, DM, Fatemifar, G, Gaunt, TR, Geihs, M, Greenwood, CMT, Hart, D, Howie, B, Huang, J, Hubbard, T, Hysi, P, Iotchkova, V, Jamshidi, Y, Kemp, JP, Lachance, G, Lawson, D, Lek, M, Lopes, M, MacArthur, DG, Marchini, J, Massimo, M, Mathieson, I, Memari, Y, Metrustry, S, Min, JL, Moayyeri, A, Northstone, K, Panoutsopoulou, K, Paternoster, L, Perry, JRB, Quaye, L, Richards, JB, Ring, S, Ritchie, GRS, Schiffels, S, Shihab, HA, Shin, S-Y, Small, KS, Artigas, MS, Soranzo, N, Southam, L, Spector, TD, St Pourcain, B, Surdulescu, G, Tachmazidou, I, Timpson, NJ, Tobin, MD, Valdes, AM, Visscher, PM, Wain, LV, Walter, K, Ward, K, Wilson, SG, Yang, J, Zeggini, E, Zhang, F, Zheng, H-F, Anney, R, Ayub, M, Barrett, JC, Blackwood, D, Bolton, PF, Breen, G, Collier, DA, Craddock, N, Crooks, L, Curran, S, Curtis, D, Gallagher, L, Geschwind, D, Gurling, H, Holmans, P, Lee, I, Lonnqvist, J, McGuffin, P, McIntosh, AM, McKechanie, AG, McQuillin, A, Morris, J, O'Donovan, MC, Owen, MJ, Palotie, A, Parr, JR, Paunio, T, Pietilainen, O, Rehnstrom, K, Sharp, SI, Skuse, D, St Clair, D, Suvisaari, J, Walters, JTR, Williams, HJ, Bochukova, E, Bounds, R, Dominiczak, A, Keogh, J, Marenne, G, Morris, A, Porteous, DJ, Smith, BH, Wheeler, E, Al Turki, S, Anderson, CA, Antony, D, Beales, P, Bentham, J, Bhattacharya, S, Calissano, M, Carss, K, Chatterjee, K, Cirak, S, Cosgrove, C, Fitzpatrick, DR, Floyd, J, Foley, AR, Franklin, CS, Futema, M, Grozeva, D, Humphries, SE, Hurles, ME, Mitchison, HM, Muntoni, F, Onoufriadis, A, Parker, V, Payne, F, Plagnol, V, Raymond, FL, Roberts, N, Savage, DB, Scambler, P, Schmidts, M, Schoenmakers, N, Semple, RK, Serra, E, Spasic-Boskovic, O, Stevens, E, van Kogelenberg, M, Vijayarangakannan, P, Williamson, KA, Wilson, C, Whyte, T, Ciampi, A, Li, R, Oualkacha, K, Xu, C, Bobrow, M, Griffin, H, Kaye, J, Kennedy, K, Kent, A, Smee, C, Charlton, R, Ekong, R, Khawaja, F, Lopes, LR, Migone, N, Payne, SJ, Pollitt, RC, Povey, S, Ridout, CK, Robinson, RL, Scott, RH, Shaw, A, Syrris, P, Taylor, R, Vandersteen, AM, Amuzu, A, Casas, JP, Chambers, JC, Cocca, M, Dedoussis, G, Gambaro, G, Gasparini, P, Isaacs, A, Johnson, J, Kleber, ME, Kooner, JS, Langenberg, C, Luan, J, Malerba, G, Marz, W, Matchan, A, Morris, R, Nordestgaard, BG, Benn, M, Scott, RA, Toniolo, D, Traglia, M, Tybjaerg-Hansen, A, van Duijn, CM, van Leeuwen, EM, Varbo, A, Whincup, P, Zaza, G, Zhang, W

المصدر: Nature Communications , 10 , Article 1718. (2019)

مصطلحات موضوعية: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, LEPTIN RESISTANCE, PROOPIOMELANOCORTIN NEURONS, SIGNAL TRANSDUCER, SOCS-3 EXPRESSION, FOOD-INTAKE, PPAR-GAMMA, ER STRESS, OBESITY, BALANCE, FOXO1

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10073734/1/s41467-019-08737-6.pdf; https://discovery.ucl.ac.uk/id/eprint/10073734/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10073734/1/s41467-019-08737-6.pdf
https://discovery.ucl.ac.uk/id/eprint/10073734/

المؤلفون: Povey, S, Smith, M, Haines, J, Kwiatkowski, D, Fountain, J, Bale, A, Abbott, C, Jackson, I, Lawrie, M, Hultén, M

مصطلحات موضوعية: DNA, Single Stranded, single stranded DNA, animal, chromosome 9, chromosome map, comparative study, conference paper, genetic linkage, genetics, human, molecular genetics, mouse, nucleotide sequence, tuberous sclerosis, Animal, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 9, Comparative Study, DNA, Single-Stranded, Human, Linkage, Mice, Molecular Sequence Data, Support, Non-U.S. Gov't, Support, U.S. Gov't, Non-P.H.S., Support, U.S. Gov't, P.H.S., Tuberous Sclerosis, Clinical Sciences, Genetics & Heredity, Genetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9ps8n973

المؤلفون: POVEY, S, SMITH, M, HAINES, J, KWIATKOWSKI, D, FOUNTAIN, J, BALE, A, ABBOTT, C, JACKSON, I, LAWRIE, M, HULTÉN, M

المصدر: Annals of Human Genetics. 56(3)

مصطلحات موضوعية: Biological Sciences, Genetics, Animals, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 9, DNA, Single-Stranded, Genetic Linkage, Humans, Mice, Molecular Sequence Data, Tuberous Sclerosis, chromosomal localization, chromosome 9, chromosome 9p, chromosome 9q, chromosome analysis, chromosome map, conference paper, friedreich ataxia, gene, gene mapping, genetic linkage, genetic polymorphism, human, major clinical study, normal human, priority journal, pulsed field gel electrophoresis, telomere, torsion dystonia, tuberous sclerosis, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5k97g95t
https://escholarship.org/content/qt5k97g95t/qt5k97g95t.pdf

المؤلفون: POVEY, S, ATTWOOD, J, JANSSEN, LAJ, BURLEY, M, SMITH, M, FLODMAN, P, MORTON, NE, EDWARDS, JH, SAMPSON, JR, YATES, JRW, HAINES, JL, AMOS, J, SHORT, MP, SANDKUYL, LA, HALLEY, DJJ, FRYER, AE, BECH‐HANSEN, T, MUELLER, R, AL‐GHAZALI, L, SUPER, M, OSBORNE, J

المصدر: Annals of the New York Academy of Sciences. 615(1)

مصطلحات موضوعية: Adult, Chromosome Mapping, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 9, Genetic Linkage, Humans, Likelihood Functions, Polymorphism, Restriction Fragment Length, Tuberous Sclerosis, conference paper, family study, female, gene mapping, human, major clinical study, male, marker gene, priority journal, tuberous sclerosis, Human, Linkage, Support, Non-U.S. Gov't, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9t86d8c2
https://escholarship.org/content/qt9t86d8c2/qt9t86d8c2.pdf

المؤلفون: JANSSEN, LAJ, POVEY, S, ATTWOOD, J, SANDKUYL, LA, LINDHOUT, D, FLODMAN, P, SMITH, M, SAMPSON, JR, HAINES, JL, MERKENS, EC, FLEURY, P, SHORT, P, AMOS, J, HALLEY, DJJ

المصدر: Annals of the New York Academy of Sciences. 615(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Tuberous Sclerosis, Brain Disorders, 2.1 Biological and endogenous factors, Chromosome Mapping, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 9, Genes, Genetic Linkage, Humans, Likelihood Functions, chromosome 11q, chromosome 9q, conference paper, female, genetic heterogeneity, genetic linkage, human, male, priority journal, tuberous sclerosis, Genes, Structural, Human, Linkage, Support, Non-U.S. Gov't, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6r63j272
https://escholarship.org/content/qt6r63j272/qt6r63j272.pdf

المؤلفون: Moorthie, Sowmiya, Blencowe, Hannah, Darlison, Matthew W, Lawn, Joy, Morris, Joan K, Modell, Bernadette, Congenital Disorders Expert Group, Bittles, AH, Blencowe, H, Christianson, A, Cousens, S, Darlison, MW, Gibbons, S, Hamamy, H, Khoshnood, B, Howson, CP, Lawn, J, Mastroiacovo, P, Modell, B, Moorthie, S, Morris, JK, Mossey, PA, Neville, AJ, Petrou, M, Povey, S, Rankin, J, Schuler-Faccini, L, Wren, C, Yunnis, KA

مصطلحات موضوعية: Congenital malformations, Estimation, Pregnancy outcomes, Prevalence

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/361117

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/361117

المؤلفون: Reichold, M, Klootwijk, ED, Reinders, J, Otto, EA, Milani, M, Broeker, C, Laing, C, Wiesner, J, Devi, S, Zhou, W, Schmitt, R, Tegtmeier, I, Sterner, C, Doellerer, H, Renner, K, Oefner, PJ, Dettmer, K, Simbuerger, JM, Witzgall, R, Stanescu, HC, Dumitriu, S, Iancu, D, Patel, V, Mozere, M, Tekman, M, Jaureguiberry, G, Issler, N, Kesselheim, A, Walsh, SB, Gale, DP, Howie, AJ, Martins, JR, Hall, AM, Kasgharian, M, O'Brien, K, Ferreira, CR, Atwal, PS, Jain, M, Hammers, A, Charles-Edwards, G, Choe, C-U, Isbrandt, D, Cebrian-Serrano, A, Davies, B, Sandford, RN, Pugh, C, Konecki, DS, Povey, S, Bockenhauer, D, Lichter-Konecki, U, Gahl, WA, Unwin, RJ, Warth, R, Kleta, R

Relation: https://ora.ox.ac.uk/objects/uuid:57e146d1-bfee-48e7-b94e-be3c50aaad2d; https://doi.org/10.1681/asn.2017111179

الاتاحة: https://doi.org/10.1681/asn.2017111179
https://ora.ox.ac.uk/objects/uuid:57e146d1-bfee-48e7-b94e-be3c50aaad2d

المؤلفون: Moorthie, S, Blencowe, H, Darlison, MW, Lawn, J, Morris, JK, Modell, B, Congenital Disorders Expert Group, ., Bittles, AH, Christianson, A, Cousens, S, Gibbons, S, Hamamy, H, Khoshnood, B, Howson, CP, Mastroiacovo, P, Mossey, PA, Neville, AJ, Petrou, M, Povey, S, Rankin, J, Schuler-Faccini, L, Wren, C, Yunnis, KA

المصدر: Journal of Community Genetics , 9 (4) pp. 387-396. (2018)

مصطلحات موضوعية: Congenital malformations, Estimation, Pregnancy outcomes, Prevalence

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10063595/1/Estimating%20the%20birth%20prevalence%20and%20pregnancy%20outcomes%20of%20congenital%20malformations%20worldwide.pdf; https://discovery.ucl.ac.uk/id/eprint/10063595/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10063595/1/Estimating%20the%20birth%20prevalence%20and%20pregnancy%20outcomes%20of%20congenital%20malformations%20worldwide.pdf
https://discovery.ucl.ac.uk/id/eprint/10063595/

المؤلفون: Blencowe, H, Moorthie, S, Petrou, M, Hamamy, H, Povey, S, Bittles, A, Gibbons, S, Darlison, M, Modell, B, Congenital Disorders Expert Group, .

المصدر: Journal of Community Genetics , 9 (4) pp. 397-406. (2018)

مصطلحات موضوعية: Birth prevalence, Disability, Mortality, Rare genetic disorders

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10060634/1/Rare%20single%20gene%20disorders%3A%20estimating%20baseline%20prevalence%20and%20outcomes%20worldwide.pdf; https://discovery.ucl.ac.uk/id/eprint/10060634/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10060634/1/Rare%20single%20gene%20disorders%3A%20estimating%20baseline%20prevalence%20and%20outcomes%20worldwide.pdf
https://discovery.ucl.ac.uk/id/eprint/10060634/

المؤلفون: Christianson, A, Cousens, S, Darlison, M, Gibbons, S, Hamamy, H, Khoshnood, B, Howson, CP, Lawn, JE, Mastroiacovo, P, Modell, B, Moorthie, S, Morris, JK, Mossey, PA, Neville, AJ, Petrou, M, Povey, S, Rankin, J, Schuler-Faccini, L, Wren, C, Yunis, KA

وصف الملف: 363 - 376

Relation: Journal of Community Genetics; http://qmro.qmul.ac.uk/xmlui/handle/123456789/42145

الاتاحة: http://qmro.qmul.ac.uk/xmlui/handle/123456789/42145
https://doi.org/10.1007/s12687-018-0359-3

المؤلفون: Blencowe, H., Moorthie, S., Petrou, M., Hamamy, H., Povey, S., Bittles, A., Gibbons, S., Darlison, M., Modell, B.

وصف الملف: pdf

Relation: ispartof: Journal of Community Genetics spage 397 epage 406 issue 4 vol 9; WOS:000446611300007; https://doi.org/10.1007/s12687-018-0376-2; 991005541051807891; https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Rare-single-gene-disorders-Estimating-baseline/991005541051807891; https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12135332820007891/13136689280007891; alma:61MUN_INST/bibs/991005541051807891

الاتاحة: https://doi.org/10.1007/s12687-018-0376-2
https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Rare-single-gene-disorders-Estimating-baseline/991005541051807891
https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12135332820007891/13136689280007891

المؤلفون: Ekong, R. (Rosemary), Nellist, M.D. (Mark), Hoogeveen-Westerveld, M. (Marianne), Wentink, M.W.J. (Marjolein), Panzer, J. (Jessica), Sparagana, S.P. (Steven), Emmett, W. (Warren), Dawson, N.L. (Natalie L.), Malinge, M.C. (Marie Claire), Nabbout, R. (Rima), Carbonara, C. (Caterina), Barberis, M. (Marco), Padovan, S. (Sergio), Futema, M. (Marta), Plagnol, V. (Vincent), Humphries, S.E. (Steve E.), Migone, N. (Nicola), Povey, S. (Sue)

المصدر: Human Mutation vol. 37 no. 4, pp. 364-370

مصطلحات موضوعية: Alternative splicing, Diagnosis, TSC2, Tuberous sclerosis, Variants

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/92408; urn:hdl:1765/92408

الاتاحة: http://repub.eur.nl/pub/92408
https://doi.org/10.1002/humu.22951