المؤلفون: Rots, D., Jakub, T. E., Keung, C., Jackson, A., Banka, S., Pfundt, R., De Vries, B. B. A., Van Jaarsveld, R. H., Hopman, S. M. J., Van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, Francois, Goldenberg, Alice, Hertz, J. M., Andersen, C. B., Kibæk, M., Prijoles, E. J., Stevenson, R. E., Everman, D. B., Patterson, W. G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P. J., Lopez Garcia, M. S., Perrier, R., Sousa, S. B., Almeida, P. M., Simões, M. J., Isidor, Bertrand, Deb, Wallid, Schmanski, A. A., Abdul-Rahman, O., Philippe, Christophe, Bruel, A. L., Faivre, L., Vitobello, A., Thauvin, Christel, Smits, J. J., Garavelli, L., Caraffi, S. G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L., Sinnema, M., Stegmann, A. P. A., Stumpel, C. T. R. M., Tiller, G. E., Bosch, D. G. M., Potgieter, S. T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A. G., Freitag, C. M., Satterstrom, F. K., De Rubeis, S., Buxbaum, J., Gelb, B. D., Branko, A., Kushima, I., Howe, J., Scherer, S. W., Arado, A., Baldo, C., Patat, O., Bénédicte, Demeer, Lopergolo, D., Santorelli, F. M., Haack, T. B., Dufke, A., Bertrand, M., Falb, R. J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M. F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M. F., Liebelt, J., Dagli, A. I., Aten, E., Hurst, A. C. E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, Juliette, Nicolas, G., Küpper, H., Petit, Florence, Ibrahim, V., Top, D., Di Cara, F., Louie, R. J., Stolerman, E., Brunner, H. G., Vissers, L. E. L. M., Kramer, J. M., Kleefstra, T.

المساهمون: Université de Lille, CHU Lille, CHU Rouen, Université de Rouen Normandie UNIROUEN, Cancer and Brain Genomics CBG, Service de génétique médicale - Unité de génétique clinique Nantes, Institut du Thorax Nantes, Génétique des anomalies du développement (CTM UMR 1231) GAD, Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) UF6254, Service Génétique Médicale CHU Toulouse, CHU Amiens-Picardie, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

وصف الملف: application/octet-stream

Relation: American Journal of Human Genetics; Am J Hum Genet; http://hdl.handle.net/20.500.12210/84123

الاتاحة: https://hdl.handle.net/20.500.12210/84123

المؤلفون: Cendales, LC, Farris, AB, Rosales, I, Elder, D, Gamboa-Dominguez, A, Gelb, B, Issa, F, Ravindra, K, Nankivell, BJ, Talbot, S, Xu, XG, Moris, D, Drachenberg, CB, Kanitakis, J, Selim, MA

Relation: https://doi.org/10.1016/j.ajt.2023.12.023

الاتاحة: https://doi.org/10.1016/j.ajt.2023.12.023
https://ora.ox.ac.uk/objects/uuid:111aae22-1af8-4f1c-bbee-31b515cbb331

المؤلفون: Greene, D, Genomics England Research Consortium, Pirri, D, Frudd, K, Sackey, E, Al-Owain, M, Giese, A, Ramzan, K, Riaz, S, Yamanaka, I, Boeckx, N, Thys, C, Gelb, B, Brennan, P, Hartill, V, Harvengt, J, Kosho, T, Mansour, S, Masuno, M, Ohata, T, Stewart, H, Taibah, K, Turner, C, Imtiaz, F, Riazuddin, S, Morisaki, T, Ostergaard, P, Loeys, B, Morisaki, H, Ahmed, Z, Birdsey, G, Freson, K, Mumford, A, Turro, E

المصدر: 688 ; 679

Relation: Nature Medicine; http://hdl.handle.net/10044/1/102716

الاتاحة: http://hdl.handle.net/10044/1/102716
https://doi.org/10.1038/s41591-023-02211-z

المؤلفون: Homsy P, Huelsboemer L, Barret JP, Blondeel P, Borsuk DE, Bula D, Gelb B, Infante-Cossio P, Lantieri L, Mardini S, Morelon E, Nasir S, Papay F, Petruzzo P, Rodriguez E, Özkan Ö, Özmen S, Pomahac B, Lassus P.

المساهمون: Homsy, P, Huelsboemer, L, Barret, Jp, Blondeel, P, Borsuk, De, Bula, D, Gelb, B, Infante-Cossio, P, Lantieri, L, Mardini, S, Morelon, E, Nasir, S, Papay, F, Petruzzo, P, Rodriguez, E, Özkan, Ö, Özmen, S, Pomahac, B, Lassus, P.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001317170400005; volume:Sep 18:e243748.; firstpage:1; lastpage:7; numberofpages:7; journal:JAMA SURGERY; https://hdl.handle.net/11584/427306

الاتاحة: https://hdl.handle.net/11584/427306
https://doi.org/10.1001/jamasurg.2024.3748

المؤلفون: Krane M., Dressen M., Santamaria G., My I., Schneider C. M., Dorn T., Laue S., Mastantuono E., Berutti R., Rawat H., Gilsbach R., Schneider P., Lahm H., Schwarz S., Doppler S. A., Paige S., Puluca N., Doll S., Neb I., Brade T., Zhang Z., Abou-Ajram C., Northoff B., Holdt L. M., Sudhop S., Sahara M., Goedel A., Dendorfer A., Tjong F. V. Y., Rijlaarsdam M. E., Cleuziou J., Lang N., Kupatt C., Bezzina C., Lange R., Bowles N. E., Mann M., Gelb B. D., Crotti L., Hein L., Meitinger T., Wu S., Sinnecker D., Gruber P. J., Laugwitz K. -L., Moretti A.

المساهمون: Krane, M, Dressen, M, Santamaria, G, My, I, Schneider, C, Dorn, T, Laue, S, Mastantuono, E, Berutti, R, Rawat, H, Gilsbach, R, Schneider, P, Lahm, H, Schwarz, S, Doppler, S, Paige, S, Puluca, N, Doll, S, Neb, I, Brade, T, Zhang, Z, Abou-Ajram, C, Northoff, B, Holdt, L, Sudhop, S, Sahara, M, Goedel, A, Dendorfer, A, Tjong, F, Rijlaarsdam, M, Cleuziou, J, Lang, N, Kupatt, C, Bezzina, C, Lange, R, Bowles, N, Mann, M, Gelb, B, Crotti, L, Hein, L, Meitinger, T, Wu, S, Sinnecker, D, Gruber, P, Laugwitz, K, Moretti, A

مصطلحات موضوعية: Autophagy, Cell cycle, Heart defects, congenital, Hypoplastic left heart syndrome, Induced pluripotent stem cell, Unfolded protein response, Whole exome sequencing

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34694888; info:eu-repo/semantics/altIdentifier/wos/WOS:000711139700008; volume:144; issue:17; firstpage:1409; lastpage:1428; numberofpages:20; journal:CIRCULATION; http://hdl.handle.net/10281/390666; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118610537

الاتاحة: http://hdl.handle.net/10281/390666
https://doi.org/10.1161/CIRCULATIONAHA.121.056198

المؤلفون: Krane, M., Dressen, M., Santamaria, G., My, I., Schneider, C., Dorn, T., Laue, S., Mastantuono, E., Berutti, R., Rawat, H., Gilsbach, R., Schneider, P., Lahm, H., Schwarz, S., Doppler, S., Paige, S., Puluca, N., Doll, S., Neb, I., Brade, T., Zhang, Z., Abou-Ajram, C., Northoff, B., Holdt, L., Sudhop, S., Sahara, M., Goedel, A., Dendorfer, A., Tjong, F., Rijlaarsdam, M., Cleuziou, J., Lang, N., Kupatt, C., Bezzina, C., Lange, R., Bowles, N., Mann, M., Gelb, B., Crotti, L., Hein, L., Meitinger, T., Wu, S., Sinnecker, D., Gruber, P., Laugwitz, K., Moretti, A.

المصدر: Circulation

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/34694888; http://hdl.handle.net/21.11116/0000-0009-7DC7-B; http://hdl.handle.net/21.11116/0000-0009-7DC9-9

الاتاحة: http://hdl.handle.net/21.11116/0000-0009-7DC7-B
http://hdl.handle.net/21.11116/0000-0009-7DC9-9

المؤلفون: Wolf, C. M., Zenker, M., Boleti, O., Norrish, G., Russell, M., Meisner, J. K., Peng, D. M., Prendiville, T., Kleinmahon, J., Kantor, P., Gottlieb, S. D., Human, D., Ewert, P., Krueger, M., Reber, D., Donner, B., Hart, C., Komazec, I. O., Rupp, S., Hahn, A., Hanser, A., Draaisma, J. M., Ten, C. F.E., Mussa, A., Ferrero, G. B., Vaujois, L., Raboisson, M. J., Marquis, C., Théoret, Y., Bogarapu, S., Dancea, A., Moller, H. M., Kemna, M., Kaski, J. P., Gelb, B. D., Andelfinger, G.

المصدر: The Thoracic and Cardiovascular Surgeon ; 55th Annual Meeting of the German Society for Pediatric Cardiology (DGPK) ; ISSN 1439-1902

الاتاحة: http://dx.doi.org/10.1055/s-0043-1761854
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0043-1761854

المؤلفون: Yu, M., Aguirre, M., Jia, M., Gjoni, K., Cordova-Palomera, A., Munger, C., Amgalan, D., Ma, X., Pereira, A., Tcheandjieu, C., Seidman, C., Seidman, J., Tristani-Firouzi, M., Chung, W., Goldmuntz, E., Srivastava, D., Loos, R., Chami, N., Cordell, H., Dressen, M., Mueller-Myhsok, B., Lahm, H., Krane, M., Pollard, K., Engreitz, J., Taliun, S., Gelb, B., Priest, J.

المصدر: CIRCULATION-GENOMIC AND PRECISION MEDICINE

Relation: http://hdl.handle.net/21.11116/0000-000D-A005-8

الاتاحة: http://hdl.handle.net/21.11116/0000-000D-A005-8

المؤلفون: Lioncino M., Monda E., Verrillo F., Moscarella E., Calcagni G., Drago F., Marino B., Digilio M. C., Putotto C., Calabro P., Russo M. G., Roberts A. E., Gelb B. D., Tartaglia M., Limongelli G.

المساهمون: Lioncino, M., Monda, E., Verrillo, F., Moscarella, E., Calcagni, G., Drago, F., Marino, B., Digilio, M. C., Putotto, C., Calabro, P., Russo, M. G., Roberts, A. E., Gelb, B. D., Tartaglia, M., Limongelli, G.

مصطلحات موضوعية: cardio-facio.cutaneou, costello, hypertrophic cardiomyopathy, LEOPARD, noonan, RASopathies

Relation: info:eu-repo/semantics/altIdentifier/pmid/34776080; info:eu-repo/semantics/altIdentifier/wos/WOS:000719585000004; volume:18; issue:1; firstpage:19; lastpage:29; numberofpages:11; journal:HEART FAILURE CLINICS; http://hdl.handle.net/11573/1618399; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85117832176

الاتاحة: http://hdl.handle.net/11573/1618399
https://doi.org/10.1016/j.hfc.2021.07.004

المؤلفون: Wolf, C. M., Zenker, M., Norrish, G., Russell, M., Meisner, J. K., Peng, D. M., Prendiville, T., Kleinmahon, J., Kantor, P. F., Sen, D. Gottlieb, Human, D. G., Ewert, P., Krueger, M., Reber, D., Donner, B. C., Hart, C., Odri-Komazec, I., Rupp, S., Hahn, A., Hanser, A., Hofbeck, M., Draaisma, J. M., Cate, F.E.A. Udink Ten, Mussa, A., Ferrero, G. B., Marquis, C., Théoret, Y., Kaski, J. P., Gelb, B. D., Andelfinger, G.

المصدر: The Thoracic and Cardiovascular Surgeon ; The 54th Annual Meeting of the German Society for Pediatric Cardiology (DGPK) ; ISSN 1439-1902

الاتاحة: http://dx.doi.org/10.1055/s-0042-1742990
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0042-1742990

المؤلفون: Barbosa, M., Joshi, R., Garg, P., Martin-Trujillo, A., Patel, N., Jadhav, B., Watson, C., Gibson, W., Chetnik, K., Tessereau, C., Mei, H., De Rubeis, S., Reichert, J., Lopes, F., Vissers, L., Kleefstra, T., Grice, D., Edelmann, L., Soares, G., Maciel, P., Brunner, H., Buxbaum, J., Gelb, B., Sharp, A.

Relation: info:eu-repo/grantAgreement/FCT/5876-PPCDTI/83026/PT; info:eu-repo/grantAgreement/FCT/5876-PPCDTI/83013/PT; info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F90167%2F2012/PT; info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBDINT%2F51549%2F2011/PT; https://www.nature.com/articles/s41467-018-04540-x; Nat Commun. 2018 May 25;9(1):2064; http://hdl.handle.net/10400.16/2305

الاتاحة: http://hdl.handle.net/10400.16/2305
https://doi.org/10.1038/s41467-018-04540-x

المؤلفون: Krane, M, Dressen, M, Santamaria, G, My, I, Schneider, C, Dorn, T, Laue, S, Mastantuono, E, Berutti, R, Rawat, H, Gilsbach, R, Schneider, P, Lahm, H, Schwarz, S, Doppler, S, Paige, S, Puluca, N, Doll, S, Neb, I, Brade, T, Zhang, Z, Abou-Ajram, C, Northoff, B, Holdt, L, Sudhop, S, Sahara, M, Goedel, A, Dendorfer, A, Tjong, F, Rijlaarsdam, M, Cleuziou, J, Lang, N, Kupatt, C, Bezzina, C, Lange, R, Bowles, N, Mann, M, Gelb, B, Crotti, L, Hein, L, Meitinger, T, Wu, S, Sinnecker, D, Gruber, P, Laugwitz, K, Moretti, A, Krane M., Dressen M., Santamaria G., My I., Schneider C. M., Dorn T., Laue S., Mastantuono E., Berutti R., Rawat H., Gilsbach R., Schneider P., Lahm H., Schwarz S., Doppler S. A., Paige S., Puluca N., Doll S., Neb I., Brade T., Zhang Z., Abou-Ajram C., Northoff B., Holdt L. M., Sudhop S., Sahara M., Goedel A., Dendorfer A., Tjong F. V. Y., Rijlaarsdam M. E., Cleuziou J., Lang N., Kupatt C., Bezzina C., Lange R., Bowles N. E., Mann M., Gelb B. D., Crotti L., Hein L., Meitinger T., Wu S., Sinnecker D., Gruber P. J., Laugwitz K. -L., Moretti A.

مصطلحات الفهرس: Autophagy, Cell cycle, Heart defects, congenital, Hypoplastic left heart syndrome, Induced pluripotent stem cell, Unfolded protein response, Whole exome sequencing, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/390666
info:eu-repo/semantics/altIdentifier/pmid/34694888
info:eu-repo/semantics/altIdentifier/wos/WOS:000711139700008
volume:144
issue:17
firstpage:1409
lastpage:1428
numberofpages:20
journal:CIRCULATION

المؤلفون: Chang, H, Gelb, B E, Stewart, Z A, Lonze, B E, Garg, K, Rockman, C B, Jacobowitz, G R, Ali, N M, Cayne, N S

المصدر: NYMC Faculty Conference Abstracts

مصطلحات موضوعية: Faculty, Medicine and Health Sciences

Relation: https://touroscholar.touro.edu/nymc_fac_abstracts/648

الاتاحة: https://touroscholar.touro.edu/nymc_fac_abstracts/648
https://doi.org/10.1016/j.avsg.2021.12.060

المؤلفون: Sebastian, M, Odgis, J, Suckiel, S, Bonini, K, Di Biase, M, Brown, K, Marathe, P, Kelly, N, Ramos, M, Rodriguez, J, Aguiniga, K L, Lopez, J, maria, E, Rodriguez, M, Yelton, N, Cunningham-Rundles, C, Gallagher, K, McDonald, T, McGoldrick, P, Rubinstein, A, Shulman, L, Wolf, S, Yozawitz, E, Zinberg, R, Abul-Husn, N, Bauman, L, Diaz, G, Ferket, B, Greally, J, Jobanputra, V, Gelb, B, Horowitz, C, Kenny, E, Wasserstein, M

المصدر: NYMC Faculty Conference Abstracts

مصطلحات موضوعية: Faculty, Medicine and Health Sciences

Relation: https://touroscholar.touro.edu/nymc_fac_abstracts/631

الاتاحة: https://touroscholar.touro.edu/nymc_fac_abstracts/631
https://doi.org/10.1016/j.gim.2022.01.271

المؤلفون: Andelfinger, G., Zenker, M., Norrish, G., Russell, M., Meisner, J., Peng, D., Prendiville, T., Kleinmahon, J., Kantor, P., Sen, D Gottlieb, Human, D., Ewert, P., Krueger, M., Reber, D., Donner, B., Hart, C., Odri-Komazec, I., Rupp, S., Hahn, A., Hanser, A., Hofbeck, M., Draaisma, J., Udink ten Cate, F., Mussa, A., Ferrero, G., Vaujois, L., Raboisson, M., Delrue, M., Marquis, C., Théorêt, Y., Kaski, J., Gelb, B., Wolf, C.

المصدر: Canadian Journal of Cardiology ; volume 38, issue 10, page S128-S129 ; ISSN 0828-282X

الاتاحة: http://dx.doi.org/10.1016/j.cjca.2022.08.056
https://api.elsevier.com/content/article/PII:S0828282X22005906?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0828282X22005906?httpAccept=text/plain

المؤلفون: Martinelli, S, Nardozza, A, Delle Vigne, S, Sabetta, G, Torreri, P, Flex, E, Venanzi, S, Gelb, B, Tartaglia, M., BOCCHINFUSO, GIANFRANCO, PALLESCHI, ANTONIO, CESARENI, GIOVANNI, STELLA, LORENZO, CASTAGNOLI, LUISA

المساهمون: Martinelli, S, Nardozza, A, Delle Vigne, S, Sabetta, G, Torreri, P, Bocchinfuso, G, Flex, E, Venanzi, S, Palleschi, A, Gelb, B, Cesareni, G, Stella, L, Castagnoli, L, Tartaglia, M

مصطلحات موضوعية: Phosphorylation, Models, Molecular, Human, Molecular Sequence Data, Amino Acid Sequence, Noonan Syndrome, Molecular Dynamics Simulation, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Mutation, src Homology Domains, Settore BIO/18 - GENETICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/22711529; info:eu-repo/semantics/altIdentifier/wos/WOS:000307386000059; volume:287; issue:32; firstpage:27066; lastpage:27077; journal:JOURNAL OF BIOLOGICAL CHEMISTRY; http://hdl.handle.net/2108/77073; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84864550789

الاتاحة: http://hdl.handle.net/2108/77073
https://doi.org/10.1074/jbc.M112.350231

المؤلفون: Motta M., Pannone L., Pantaleoni F., Bocchinfuso G., Radio F. C., Cecchetti S., Ciolfi A., Di Rocco M., Elting M. W., Brilstra E. H., Boni S., Mazzanti L., Tamburrino F., Walsh L., Payne K., Fernandez-Jaen A., Ganapathi M., Chung W. K., Grange D. K., Dave-Wala A., Reshmi S. C., Bartholomew D. W., Mouhlas D., Carpentieri G., Bruselles A., Pizzi S., Bellacchio E., Piceci-Sparascio F., Lissewski C., Brinkmann J., Waclaw R. R., Waisfisz Q., van Gassen K., Wentzensen I. M., Morrow M. M., Alvarez S., Martinez-Garcia M., De Luca A., Memo L., Zampino G., Rossi C., Seri M., Gelb B. D., Zenker M., Dallapiccola B., Stella L., Prada C. E., Martinelli S., Flex E., Tartaglia M.

المساهمون: Motta, M., Pannone, L., Pantaleoni, F., Bocchinfuso, G., Radio, F. C., Cecchetti, S., Ciolfi, A., Di Rocco, M., Elting, M. W., Brilstra, E. H., Boni, S., Mazzanti, L., Tamburrino, F., Walsh, L., Payne, K., Fernandez-Jaen, A., Ganapathi, M., Chung, W. K., Grange, D. K., Dave-Wala, A., Reshmi, S. C., Bartholomew, D. W., Mouhlas, D., Carpentieri, G., Bruselles, A., Pizzi, S., Bellacchio, E., Piceci-Sparascio, F., Lissewski, C., Brinkmann, J., Waclaw, R. R., Waisfisz, Q., van Gassen, K., Wentzensen, I. M., Morrow, M. M., Alvarez, S., Martinez-Garcia, M., De Luca, A., Memo, L., Zampino, G., Rossi, C., Seri, M., Gelb, B. D., Zenker, M., Dallapiccola, B., Stella, L., Prada, C. E., Martinelli, S., Flex, E., Tartaglia, M.

مصطلحات موضوعية: C. elegan, ERK2, exome sequencing, intracellular signaling, MAPK cascade, MKP3, Noonan syndrome, RAS signaling, RASopathie, RSK, Carcinogenesi, Child, Preschool, Female, Human, MAP Kinase Signaling System, Male, Mitogen-Activated Protein Kinase 1, Mutation, Missense, Neurodevelopmental Disorder, Phenotype, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Signal Transduction, Whole Exome Sequencing, ras Proteins

Relation: info:eu-repo/semantics/altIdentifier/pmid/32721402; info:eu-repo/semantics/altIdentifier/wos/WOS:000565899700010; volume:107; issue:3; firstpage:499; lastpage:513; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11573/1554965; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089385871

الاتاحة: http://hdl.handle.net/11573/1554965
https://doi.org/10.1016/j.ajhg.2020.06.018

المؤلفون: Oishi, K, BARCHI, MARCO, Au, A, Gelb, B, Diaz, G.

المساهمون: Oishi, K, Barchi, M, Au, A, Gelb, B, Diaz, G

مصطلحات موضوعية: Settore BIO/10 - BIOCHIMICA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000189129300006; firstpage:299; lastpage:309; numberofpages:11; journal:DEVELOPMENTAL BIOLOGY; http://hdl.handle.net/2108/40441; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0347131114

الاتاحة: http://hdl.handle.net/2108/40441
https://doi.org/10.1016/j.ydbio.2003.10.026

المؤلفون: Flex, E., Jaiswal, M., Pantaleoni, F., Martinelli, S., Strullu, M., Fansa, E. K., Caye, A., De Luca, A., Lepri, F., Dvorsky, R., Pannone, L., Paolacci, S., Zhang, S.-C., Fodale, V., Bocchinfuso, G., Rossi, C., Burkitt-Wright, E. M. M., Farrotti, A., Stellacci, E., Cecchetti, S., Ferese, R., Bottero, L., Castro, S., Fenneteau, O., Brethon, B., Sanchez, M., Roberts, A. E., Yntema, H. G., Van Der Burgt, I., Cianci, P., Bondeson, M.-L., Cristina Digilio, M., Zampino, G., Kerr, B., Aoki, Y., Loh, M. L., Palleschi, A., Di Schiavi, E., Care, A., Selicorni, A., Dallapiccola, B., Cirstea, I. C., Stella, L., Zenker, M., Gelb, B. D., Cave, H., Ahmadian, M. R., Tartaglia, M.

المصدر: Human Molecular Genetics ; volume 23, issue 16, page 4315-4327 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddu148
http://academic.oup.com/hmg/article-pdf/23/16/4315/13923502/ddu148.pdf

المؤلفون: John R. Gillespie A, Kohei Yokoyama B, Karen Lu A, Wesley C. Van Voorhis A, Michael H. Gelb B

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://faculty.washington.edu/gelb/documents/molbiochempara.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.528.155; http://faculty.washington.edu/gelb/documents/molbiochempara.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.528.155
http://faculty.washington.edu/gelb/documents/molbiochempara.pdf