المؤلفون: Garza-Mayen, Gilda, Diaz, Carlos, Romo-Pardo, Beatriz, Piña-Aguilar, Raul E., Ramirez, Eva, Mayen-Molina, Dora, Arenas, Gabriela, Carrizosa, Nancy, López, Alejandro Olmos, Rivera, Gabriela, Juaristi-Manrique, Carlos, Garza-Morales, Saul

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100198 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100198
https://api.elsevier.com/content/article/PII:S294977442300198X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S294977442300198X?httpAccept=text/plain

المؤلفون: David, Dezső, Freixo, João P., Fino, Joana, Carvalho, Inês, Marques, Mariana, Cardoso, Manuela, Piña-aguilar, Raul E., Morton, Cynthia C.

المصدر: David , D , Freixo , J P , Fino , J , Carvalho , I , Marques , M , Cardoso , M , Piña-aguilar , R E & Morton , C C 2020 , ' Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape ' , Human Genetics . https://doi.org/10.1007/s00439-020-02121-x

وصف الملف: application/pdf

Relation: https://research.manchester.ac.uk/en/publications/95fd52f4-255e-4520-9b94-8acd8f8d577b

الاتاحة: https://research.manchester.ac.uk/en/publications/95fd52f4-255e-4520-9b94-8acd8f8d577b
https://doi.org/10.1007/s00439-020-02121-x
https://pure.manchester.ac.uk/ws/files/160216199/David_et_al_Hum_Genet_Supp_Mat_2020_002_.pdf
http://link.springer.com/10.1007/s00439-020-02121-x

المؤلفون: Lanuza-López, María C., Martínez-Garza, Sandra G., Solórzano-Vázquez, Jesús F., Paz-Cervantes, Daniela, González-Ortega, Claudia, Maldonado-Rosas, Israel, Villegas-Moreno, Gerardo, Villar-Muñoz, Lina G., Arroyo-Méndez, Francisco A., Gutiérrez-Gutiérrez, Antonio M., Piña-Aguilar, Raul E.

المصدر: Gynecological Endocrinology ; volume 36, issue 9, page 829-834 ; ISSN 0951-3590 1473-0766

الاتاحة: http://dx.doi.org/10.1080/09513590.2020.1725968
https://www.tandfonline.com/doi/pdf/10.1080/09513590.2020.1725968

المؤلفون: Dong, Zirui, Yan, Junhao, Xu, Fengping, Yuan, Jianying, Jiang, Hui, Wang, Huilin, Chen, Haixiao, Zhang, Lei, Ye, Lingfei, Xu, Jinjin, Shi, Yuhua, Yang, Zhenjun, Cao, Ye, Chen, Lingyun, Li, Qiaoling, Zhao, Xia, Li, Jiguang, Chen, Ao, Zhang, Wenwei, Wong, Hoi Gin, Qin, Yingying, Zhao, Han, Chen, Yuan, Li, Pei, Ma, Tao, Wang, Wen-jing, Kwok, Yvonne K., Jiang, Yuan, Pursley, Amber N., Chung, Jacqueline P.w., Hong, Yan, Kristiansen, Karsten, Yang, Huanming, Piña-aguilar, Raul E., Leung, Tak Yeung, Cheung, Sau Wai, Morton, Cynthia C., Choy, Kwong Wai, Chen, Zi-jiang

المصدر: Dong , Z , Yan , J , Xu , F , Yuan , J , Jiang , H , Wang , H , Chen , H , Zhang , L , Ye , L , Xu , J , Shi , Y , Yang , Z , Cao , Y , Chen , L , Li , Q , Zhao , X , Li , J , Chen , A , Zhang , W , Wong , H G , Qin , Y , Zhao , H , Chen , Y , Li , P , Ma , ....

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

Relation: https://research.manchester.ac.uk/en/publications/1850a8a7-e9e3-4d17-a130-651f95ac2a54

الاتاحة: https://research.manchester.ac.uk/en/publications/1850a8a7-e9e3-4d17-a130-651f95ac2a54
https://doi.org/10.1016/j.ajhg.2019.10.003
https://pure.manchester.ac.uk/ws/files/157879239/RM_manuscript_20190927_track_changed_no_TC.docx
https://linkinghub.elsevier.com/retrieve/pii/S000292971930391X

المؤلفون: González-Ortega, Claudia, Piña-Aguilar, Raul E., Cancino-Villarreal, Patricia, Pérez-Peña, Efraín, Gutiérrez-Gutiérrez, Antonio M.

المساهمون: USP, CONACYT

المصدر: Taiwanese Journal of Obstetrics and Gynecology ; volume 58, issue 2, page 192-195 ; ISSN 1028-4559

الاتاحة: http://dx.doi.org/10.1016/j.tjog.2019.01.004
https://api.elsevier.com/content/article/PII:S102845591930004X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S102845591930004X?httpAccept=text/plain

المؤلفون: Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M. H. F., Brilstra, Eva H., Brown, Chester W., Bruggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B. A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Mendoza, Cinthya J. Zepeda, Menten, Bjorn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Pina Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L. P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M. L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.

المصدر: Redin , C , Brand , H , Collins , R L , Kammin , T , Mitchell , E , Hodge , J C , Hanscom , C , Pillalamarri , V , Seabra , C M , Abbott , M-A , Abdul-Rahman , O A , Aberg , E , Adley , R , Alcaraz-Estrada , S L , Alkuraya , F S , An , Y , Anderson , M-A , Antolik , C , Anyane-Yeboa , K , Atkin , J F , Bartell , T , Bernstein , J A , Beyer , E ....

مصطلحات موضوعية: AUTISM SPECTRUM DISORDER, DE-NOVO MUTATIONS, SEVERE MENTAL-RETARDATION, OF-FUNCTION MUTATIONS, MICRODELETION SYNDROME, CHROMOSOME REARRANGEMENTS, INTELLECTUAL DISABILITY, STRUCTURAL VARIATION, DEVELOPMENTAL DELAY, CANCER GENOMES

الاتاحة: https://hdl.handle.net/11370/2cc769f3-7d83-4416-86f5-f75f2161ded9
https://research.rug.nl/en/publications/2cc769f3-7d83-4416-86f5-f75f2161ded9
https://doi.org/10.1038/ng.3720
http://europepmc.org/articles/pmc5307971?pdf=render

المؤلفون: Snyder, Emma A., San Roman, Adrianna K., Piña-Aguilar, Raul E., Steeves, Marcie A., McNamara, Erin A., Souter, Irene, Hayes, Frances J., Levitsky, Lynne L., Lin, Angela E.

المصدر: European Journal of Medical Genetics ; volume 64, issue 3, page 104140 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2021.104140
https://api.elsevier.com/content/article/PII:S1769721221000069?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721221000069?httpAccept=text/plain

المؤلفون: Aguilar-y-Mendez, Dione, Galaz Montoya, Carolina Isabel, Piña Aguilar, Raul E.

المصدر: Molecular Genetics and Metabolism ; volume 132, page S155 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/s1096-7192(21)00327-9
https://api.elsevier.com/content/article/PII:S1096719221003279?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719221003279?httpAccept=text/plain

المؤلفون: López-Saucedo, Janet, Ramón-Ugalde, Julio P., Piña-Aguilar, Raúl E.

المساهمون: BHL SciELO

مصطلحات موضوعية: clonación, conservación biológica, especies extintas, reproducción asistida

Relation: https://www.biodiversitylibrary.org/part/111999

الاتاحة: https://www.biodiversitylibrary.org/part/111999

المؤلفون: Navarrete Sierra, Luis F., González Parra, Eugenia I., Cruz Tamayo, Alvar A., Piña Aguilar, Raúl E., Sangines García, José R., Toledo López, Víctor, Ramón Ugalde, Julio P.

مصطلحات موضوعية: Hormona de crecimiento recombinante, Respuesta superovulatoria, Viabilidad embrionaria, Universidad del Zulia (LUZ), Universidad de Los Andes (ULA), Embryo viability, Recombinant growth hormone, Superovulatory response, Revista Científica, Revistas

وصف الملف: image/jpeg; application/pdf

Relation: T016300004997/9; http://www.saber.ula.ve/handle/123456789/23629; 199102ZU46

الاتاحة: http://www.saber.ula.ve/handle/123456789/23629

المؤلفون: Piña-Aguilar, Raul E.

مصطلحات موضوعية: Letters to the Editor

وصف الملف: text/html

Relation: http://humrep.oxfordjournals.org/cgi/content/short/23/12/2875; http://dx.doi.org/10.1093/humrep/den349

الاتاحة: http://humrep.oxfordjournals.org/cgi/content/short/23/12/2875
https://doi.org/10.1093/humrep/den349

المؤلفون: Piña-Aguilar, Raúl E.

المصدر: Fertility and Sterility ; volume 86, issue 3, page 775-776 ; ISSN 0015-0282

الاتاحة: http://dx.doi.org/10.1016/j.fertnstert.2006.07.1470
https://api.elsevier.com/content/article/PII:S0015028206032444?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0015028206032444?httpAccept=text/plain

المؤلفون: Nalbandian, Katarena, Piña‐Aguilar, Raul E., Morton, Cynthia C.

المصدر: Current Protocols in Human Genetics ; volume 108, issue 1 ; ISSN 1934-8266 1934-8258

الاتاحة: http://dx.doi.org/10.1002/cphg.107
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cphg.107
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/cphg.107
https://currentprotocols.onlinelibrary.wiley.com/doi/pdf/10.1002/cphg.107

المؤلفون: Piña-Aguilar, Raul E., Simpson, Sheila A., Alshatti, Abdulrahman, Clarke, Angus, Craufurd, David, Dorkins, Huw, Doye, Karen, Lahiri, Nayana, Lashwood, Alison, Lynch, Colleen, Miller, Claire, Morton, Sally, O'Driscoll, Mary, Quarrell, Oliver W., Rae, Daniela, Strong, Mark, Tomlinson, Charlotte, Turnpenny, Peter, Miedzybrodzka, Zosia

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/118278/1/CLARKE,%20Angus%20-%2027%20Years%20of%20Prenatal%20Diagnosis%20for%20Huntington%20Disease%20-%20current.pdf; Piña-Aguilar, Raul E., Simpson, Sheila A., Alshatti, Abdulrahman, Clarke, Angus https://orca.cardiff.ac.uk/view/cardiffauthors/A0238088.html orcid:0000-0002-1200-9286 orcid:0000-0002-1200-9286, Craufurd, David, Dorkins, Huw, Doye, Karen, Lahiri, Nayana, Lashwood, Alison, Lynch, Colleen, Miller, Claire, Morton, Sally, O'Driscoll, Mary, Quarrell, Oliver W., Rae, Daniela, Strong, Mark, Tomlinson, Charlotte, Turnpenny, Peter and Miedzybrodzka, Zosia 2019. 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. Genetics in Medicine 21 , pp. 1639-1643. 10.1038/s41436-018-0367-z https://doi.org/10.1038/s41436-018-0367-z file https://orca.cardiff.ac.uk/id/eprint/118278/1/CLARKE,%20Angus%20-%2027%20Years%20of%20Prenatal%20Diagnosis%20for%20Huntington%20Disease%20-%20current.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/118278/
https://doi.org/10.1038/s41436-018-0367-z
https://orca.cardiff.ac.uk/id/eprint/118278/1/CLARKE,%20Angus%20-%2027%20Years%20of%20Prenatal%20Diagnosis%20for%20Huntington%20Disease%20-%20current.pdf

المؤلفون: Martin, George M., KUBISCH, Christian, SCHINDLER, Detlev, DEGUCHI, Kentaro, EASWAR, T. K. M., FEDERICO, Antonio, Fox, Amy, GREBE, Theresa A., STREETEN, Elizabeth, PINA-AGUILAR, Raul E., POKE, Gemma, Poot, Martin, POSMYK, Renata, Oshima, Junko, HAY, Beverly, NAMPOOTHIRI, Sheela, SEITER, Karen, Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, EIRICH, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, LESSEL, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., ANGLE, Brad, BARIS, Hagit, CHATEAU, Antoinette, Ozturk, Sukru, Palanduz, Sukru, Cefle, Kıvanç

المساهمون: 42139

مصطلحات موضوعية: Tıbbi Genetik, GENETİK VE HAYAT, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Yaşam Bilimleri, Temel Bilimler

Relation: HUMAN MUTATION; Yokote K., Chanprasert S., Lee L., EIRICH K., Takemoto M., Watanabe A., Koizumi N., LESSEL D., Mori T., Hisama F. M. , et al., "WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects", HUMAN MUTATION, cilt.38, sa.1, ss.7-15, 2017; vv_1032021; av_576a108c-1739-492f-87eb-a2b7fa48c50a; http://hdl.handle.net/20.500.12627/61646; https://doi.org/10.1002/humu.23128; 38; 15

الاتاحة: https://hdl.handle.net/20.500.12627/61646
https://doi.org/10.1002/humu.23128

المؤلفون: Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña-Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, Oshima, Junko

المصدر: Human Mutation, 38(1)

مصطلحات موضوعية: Werner Syndrome, Aging, Progeroid syndrome, WRN, Registries, Nuclear Proteins, Acceleration, RECQL2, Metabolism, Recombinational DNA Repair, Mutation, Genes, Prevalence, Proteins, RecQ helicase, Homo sapiens, Phenotype, DNA, Exonucleases, Therapeutics, RECQ3

Relation: https://doi.org/10.17615/ze8p-ny32; https://cdr.lib.unc.edu/downloads/d504rq950?file=thumbnail; https://cdr.lib.unc.edu/downloads/d504rq950

الاتاحة: https://doi.org/10.17615/ze8p-ny32
https://cdr.lib.unc.edu/downloads/d504rq950?file=thumbnail
https://cdr.lib.unc.edu/downloads/d504rq950

المؤلفون: Chacón‐Camacho, Oscar F., Sobreira, Nara, You, Jing, Piña‐Aguilar, Raul E., Villegas‐Ruiz, Vanessa, Zenteno, Juan C.

المساهمون: National Human Genome Research Institute

المصدر: American Journal of Medical Genetics Part A ; volume 170, issue 7, page 1934-1937 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.37683
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.37683
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37683

المؤلفون: Santillán-Hernández, Yuritzi, Almanza-Miranda, Enory, Xin, Winnie W., Goss, Kendrick, Vera-Loaiza, Aurea, Gorráez-De La Mora, María T., Pina Aguilar, Raul E

المساهمون: University of Aberdeen.Medical Sciences

مصطلحات موضوعية: SDG 3 - Good Health and Well-being, Cholesteryl ester storage disease, Dyslipidemia, Liver fibrosis, Liver steatosis, Wolman disease, R Medicine, Gastroenterology, General Medicine

وصف الملف: application/pdf

Relation: World Journal of Gastroenterology; 2ea93f55-a494-4719-9abc-3c711f6e882e; 84921479779; Santillán-Hernández , Y , Almanza-Miranda , E , Xin , W W , Goss , K , Vera-Loaiza , A , Gorráez-De La Mora , M T & Pina Aguilar , R E 2015 , ' Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency ' , World Journal of Gastroenterology , vol. 21 , no. 3 , pp. 1001-1008 . https://doi.org/10.3748/wjg.v21.i3.1001; ORCID: /0000-0002-2043-4282/work/48201876; http://hdl.handle.net/2164/8137; http://www.scopus.com/inward/record.url?scp=84921479779&partnerID=8YFLogxK

الاتاحة: http://hdl.handle.net/2164/8137
https://doi.org/10.3748/wjg.v21.i3.1001
http://www.scopus.com/inward/record.url?scp=84921479779&partnerID=8YFLogxK

المؤلفون: Chacon‐Camacho, Oscar F., Villegas‐Ruiz, Vanessa, Buentello‐Volante, Beatriz, Piña‐Aguilar, Raul E., Peláez‐González, Hugo, Ramírez, Magdalena, González‐Rodríguez, Johanna, Zenteno, Juan Carlos

المصدر: American Journal of Medical Genetics Part A ; volume 167, issue 2, page 282-286 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.36851
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.36851
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.36851

المؤلفون: Chacon‐Camacho, Oscar F., Lopez‐Martinez, Monica S., Vázquez, Johanna, Nava‐Castañeda, Angel, Martin‐Biasotti, Fernando, Piña‐Aguilar, Raul E., Iñiguez‐Soto, Marisol, Acosta‐García, Job, Zenteno, Juan C.

المصدر: American Journal of Medical Genetics Part A ; volume 161, issue 6, page 1470-1474 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.35916
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.35916
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.35916