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1Academic Journal
المؤلفون: Jiménez Legido, M, Cortés Ledesma, C, Bernardino Cuesta, B, López Marín, L, Cantarín Extremera, V, Pérez-Cerdá, C, Pérez González, B, Lopez-Martin, Estrella, González Gutiérrez-Solana, L
المساهمون: Instituto de Salud Carlos III
مصطلحات موضوعية: Ausencias precoces, Discinesia paroxística, Early-onset absence epilepsy, Epilepsia refractaria, GLUT1, Hipoglucorraquia, Low CSF glucose, Paroxismal dyskinesia, Refractory epilepsy, SLC2A1
Relation: https://doi.org/10.1016/j.nrleng.2018.10.023; Neurologia (Engl Ed). 2022;37(2):91-100.; http://hdl.handle.net/20.500.12105/14127; Neurologia (Barcelona, Spain)
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2Academic Journal
المؤلفون: Jiménez Legido, M., Cortés Ledesma, C., Bernardino Cuesta, B., López Marín, L., Cantarín Extremera, V., Pérez-Cerdá, C., Pérez González, B., López Martín, E., González Gutiérrez-Solana, L.
المصدر: Neurología ; volume 37, issue 2, page 91-100 ; ISSN 0213-4853
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3Academic Journal
المؤلفون: Vilas, A., Yuste-Checa, P., Gallego, D., Ruiz Desviat, Lourdes, Ugarte, M., Pérez-Cerda, C., Gámez, A., Pérez, B.
المساهمون: UAM. Departamento de Biología Molecular
مصطلحات موضوعية: Congenital disorders of glycosylation, Molecular chaperones, Pharmacological chaperones, PMM2-CDG, Proteostasis regulators, Biología y Biomedicina / Biología
وصف الملف: application/pdf
Relation: Biochimica et Biophysica Acta - Molecular Basis of Disease; https://doi.org/10.1016/j.bbadis.2020.165777; info:eu-repo/H2020-QLG1-CT-2000-00047; Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1866.7 (2020): 165777; 0925-4439 (Print); http://hdl.handle.net/10486/709721; 165777-1; 165777-27; 1866
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4Academic Journal
المؤلفون: López-Márquez, Arístides, Alonso-Barroso, Esmeralda, Cerro-Tello, Gema, Bravo-Alonso, I., Arribas-Carreira, L., Briso-Montiano, Álvaro, Navarrete, Rosa, Pérez-Cerdá, C., Ugarte, Magdalena, Pérez, Belén, Desviat, Lourdes R., Richard, Eva
المساهمون: UAM. Departamento de Biología Molecular
مصطلحات موضوعية: Mononuclear cells, Peripheral blood mononuclear cells (PBMCs), Autism Spectrum Disorder (ASD), Biología y Biomedicina / Biología
وصف الملف: application/pdf
Relation: Stem Cell Research; https://doi.org/10.1016/j.scr.2019.101516; Stem Cell Research 2019.39 (2019): 101516; http://hdl.handle.net/10486/690956; 101516-1; 39; 101516-5; 2019
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5Academic Journal
المؤلفون: Bravo-Alonso, I., Navarrete, R., Vega, A. I., Ruíz-Sala, P., García Silva, M. T., Martín-Hernández, E., Quijada-Fraile, P., Belanger-Quintana, A., Stanescu, S., Bueno, M., Vitoria, I., Toledo, L., Couce Pico, María Luz, García-Jiménez, I., Ramos-Ruiz, R., Martín, M., Desviat, L. R., Ugarte, M., Pérez-Cerdá, C., Merinero, B., Pérez, B., Rodríguez-Pombo, P.
Relation: https://res.mdpi.com/d_attachment/jcm/jcm-08-01811/article_deploy/jcm-08-01811.pdf; https://www.ncbi.nlm.nih.gov/pubmed/31683770; http://hdl.handle.net/20.500.11940/15381; 30602
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6Academic Journal
المصدر: Neurología ; volume 34, issue 2, page 139-141 ; ISSN 0213-4853
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7Academic Journal
المصدر: Neurología (English Edition) ; volume 34, issue 2, page 139-141 ; ISSN 2173-5808
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8Academic Journal
المؤلفون: Cabezas, OR, Flanagan, S, Stanescu, H, Garcia-Martinez, E, Caswell, R, Lango-Allen, H, Anton-Gamero, M, Argente, J, Bussell, AM, Brandli, A, Cheshire, C, Crowne, E, Dumitriu, S, Drynda, R, Hamilton-Shield, J, Hayes, W, Hofherr, A, Iancu, D, Issler, N, Jefferies, C, Jones, P, Johnson, M, Kesselheim, A, Klootwijk, E, Koettgen, M, Lewis, W, Martos, JM, Mozere, M, Norman, J, Patel, V, Parrish, A, Perez-Cerda, C, Pozo, J, Rahman, SA, Sebire, N, Tekman, M, Turnpenny, P, van't Hoff, W, Viering, D, Weedon, M, Wilson, P, Guay-Woodford, L, Kleta, R, Hussain, K, Ellard, S, Bockenhauer, D
المصدر: Journal of the American Society of Nephrology , 28 (8) pp. 2529-2539. (2017)
مصطلحات موضوعية: polycystic kidney disease, hyperinsulinemic hypoglycemia, glycosylation, promoter, PMM2, ZNF143
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/1542470/36/Bockenhauer_HIPKD%2520JASN%2520rev2%252020170207clean.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/9/HIPKD-Figure%201-20160613.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/15/HIPKD-Figure%202-20160613.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/20/HIPKD-Figure%203-20160613.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/25/HIPKD-Figure%204-20160613.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/30/HIPKD%20Table1%20rev20170202.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/3/Supplementary%20Appendix%20JASNrev%2020170202.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/
الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1542470/36/Bockenhauer_HIPKD%2520JASN%2520rev2%252020170207clean.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/9/HIPKD-Figure%201-20160613.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/15/HIPKD-Figure%202-20160613.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/20/HIPKD-Figure%203-20160613.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/25/HIPKD-Figure%204-20160613.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/30/HIPKD%20Table1%20rev20170202.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/3/Supplementary%20Appendix%20JASNrev%2020170202.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/ -
9Academic Journal
المؤلفون: Gámez, A., Yuste‐Checa, P., Brasil, S., Briso‐Montiano, Á., Desviat, L.R., Ugarte, M., Pérez‐Cerdá, C., Pérez, B.
المساهمون: European Regional Development Fund
المصدر: Clinical Genetics ; volume 93, issue 3, page 450-458 ; ISSN 0009-9163 1399-0004
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10Book
المؤلفون: Marín Soria, J.L., Aldamiz-Echevarría, L., Castiñeiras Ramos, Daisy E., Dalmau Serra, J., Fernández Sánchez, A., González Lamuño, Domingo, Juan Fita, M.J., Jiménez Jiménez, L.M., Pérez-Cerdá, C.
مصطلحات موضوعية: Discapacidad, Diagnostico prenatal, Deteccion precoz, Genetica, Enfermedades hereditarias, Enfermedades metabolicas, Neonatologia, Programas de salud, Recomendaciones, Patologia, España
جغرافية الموضوع: España
Relation: http://hdl.handle.net/11181/2991
الاتاحة: http://hdl.handle.net/11181/2991
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11Academic Journal
المؤلفون: Schweitzer, S, Scholl, S, Das, AM, Pronicka, E, Sykut-Cegielska, J, Huner, Gülden Fatma, Wolf, B, Jensen, K, Demirkol, M, Baykal, T, Divry, P, Rolland, MO, Perez-Cerda, C, Ugarte, M, Straussberg, R, Basel-Vanagaite, L, Baumgartner, ER, Suormala, T
المساهمون: İstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Tıp, 165962
مصطلحات موضوعية: GENETİK VE HAYAT, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Tıp, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Tıbbi Genetik, Tıbbi Ekoloji ve Hidroklimatoloji, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, Klinik Tıp (MED), Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, Sağlık Bilimleri
Relation: Molecular genetics and metabolism; Wolf B., Jensen K., Huner G. F. , Demirkol M., Baykal T., Divry P., Rolland M., Perez-Cerda C., Ugarte M., Straussberg R., et al., "Seventeen novel mutations that cause profound biotinidase deficiency.", Molecular genetics and metabolism, cilt.77, ss.108-11, 2002; vv_1032021; av_99ccd412-6529-4fa9-b71f-83364d266f6d; http://hdl.handle.net/20.500.12627/103429; https://doi.org/10.1016/s1096-7192(02)00149-x; 77; 108; 11
الاتاحة: https://hdl.handle.net/20.500.12627/103429
https://doi.org/10.1016/s1096-7192(02)00149-x -
12Academic JournalThirteen Years Experience with Selective Screening for Disorders in Purine and Pyrimidine Metabolism
المؤلفون: Castro, M., Carrillo, R., García, F., Sanz, P., Ferrer, I., Ruiz-Sala, P., Vega, A. I., Ruíz Desviat, L., Pérez, B., Pérez-Cerdá, C., Merinero, B., Ugarte, M.
المصدر: Nucleosides, Nucleotides and Nucleic Acids ; volume 33, issue 4-6, page 233-240 ; ISSN 1525-7770 1532-2335
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13Academic Journal
المؤلفون: Vilas, A., Yuste-Checa, P., Gallego, D., Desviat, L., Ugarte, M., Perez-Cerda, C., Gamez, A., Perez, B.
المصدر: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
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14Academic Journal
المؤلفون: Pérez-Cerdá, C., Clavero, S., Pérez, B., Rodrı́guez-Pombo, P., Desviat, L.R., Ugarte, M.
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ; volume 1638, issue 1, page 43-49 ; ISSN 0925-4439
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15Academic Journal
المؤلفون: Pérez-Cerdá, C, Merinero, B, Rodríguez-Pombo, P, Pérez, B, Desviat, LR, Muro, S, Richard, E, García, MJ, Gangoiti, J, Sala, PRuiz, Sanz, P, Briones, P, Ribes, A, Martínez-Pardo, M, Campistol, J, Pérez, M, Lama, R, Murga, ML, Lema-Garrett, T, Verdú, A, Ugarte, M
المصدر: European Journal of Human Genetics ; volume 8, issue 3, page 187-194 ; ISSN 1018-4813 1476-5438
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16Academic JournalFeasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia
المؤلفون: Muro, S, Pérez-Cerdá, C, Rodríguez-Pombo, P, Pérez, B, Briones, P, Ribes, A, Ugarte, M
مصطلحات موضوعية: Short reports
وصف الملف: text/html
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17Academic Journal
المؤلفون: Medrano, C., Vega, A., Navarrete, Rosa, Jesus Ecay, M., Calvo, R., Ignacio Pascual, Samuel, Lefeber, D.J., Perez, B., Perez-Cerda, C.
المصدر: Clinical Genetics, 95, 5, pp. 615-626
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience
Relation: http://hdl.handle.net/2066/203306
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18Academic Journal
المؤلفون: Navarrete, R., Leal, F., Vega, A. I., Morais-López, A., Garcia-Silva, M. T., Martín-Hernández, E., Quijada-Fraile, P., Bergua, A., Vives, I., García-Jiménez, I., Yahyaoui, R., Pedrón-Giner, C., Belanger-Quintana, A., Stanescu, S., Cañedo, E., García-Campos, O., Bueno-Delgado, M., Delgado-Pecellín, C., Vitoria, I., Rausell, M. D., Balmaseda, E., Couce Pico, María Luz, Desviat, L. R., Merinero, B., Rodríguez-Pombo, P., Ugarte, M., Pérez-Cerdá, C., Pérez, B.
مصطلحات موضوعية: CHUS
Relation: https://www.ncbi.nlm.nih.gov/pubmed/30626930; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460639/pdf/41431_2018_Article_330.pdf; http://hdl.handle.net/20.500.11940/15523; 30885
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19
المؤلفون: Martinez-Monseny T, Bolasell M, Callejón L, Cuadras-Palleja D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero-Sanchez R, Pérez-Cerdá C, Pérez-Dueñas B, Artuch-Iriberri R, Jaeken J, and the CDG Spanish Consortium, Serrano M
المصدر: ANNALS OF NEUROLOGY
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
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المؤلفون: Martinez-Monseny T, Cuadras-Palleja D, Bolasell M, Muchart-Lopez J, Arjona-Fernandez C, Borregan M, Algrabli A, Montero-Sanchez R, Artuch-Iriberri R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M
المصدر: JOURNAL OF MEDICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: cerebellar disorders, phosphomannomutase, dysmorphology, congenital disorders of glycosylation, automated facial analysis software
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