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1دورية أكاديمية
المؤلفون: Hugo Hernán Abarca Barriga, Felix Chavesta Velásquez, Claudia Barletta Carrillo, Abel Paucarmayta Tacuri, Margaret Bazán Hurtado, Tania Vásquez Loarte, Luis Ordoñez Rondón, Marco Ordoñez Linares, Evelina Andrea Rondón Abuhadba
المصدر: Revista de la Facultad de Ciencias Médicas de Córdoba, Vol 79, Iss 2 (2022)
مصطلحات موضوعية: análisis por micromatrices, variaciones en el número de copias de ADN, recién nacido, anormalías congénitas, consanguinidad, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://revistas.unc.edu.ar/index.php/med/article/view/34538Test; https://doaj.org/toc/0014-6722Test; https://doaj.org/toc/1853-0605Test
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2دورية أكاديمية
المصدر: Revista de la Facultad de Medicina Humana, Vol 21, Iss 2, Pp 399-416 (2021)
مصطلحات موضوعية: genetic diseases, genetic therapy, hematopoietic stem cells, transplant, therapy, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: http://revistas.urp.edu.pe/index.php/RFMH/article/view/3626Test; https://doaj.org/toc/1814-5469Test; https://doaj.org/toc/2308-0531Test
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3دورية أكاديمية
المؤلفون: Hugo Hernán Abarca-Barriga, María Cristina Laso-Salazar, Diego Orihuela-Tacuri, Jenny Chirinos-Saire, Anahí Venero-Nuñez
المصدر: BMC Pediatrics, Vol 24, Iss 1, Pp 1-7 (2024)
مصطلحات موضوعية: SLC2A2, Hypophosphatemia, Glycogen storage disease, Renal tubular acidosis, Exome sequencing, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2431Test
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المؤلفون: Hugo Hernán Abarca Barriga
المصدر: Revista de Neuro-Psiquiatria. 84:33-50
مصطلحات موضوعية: medicine.medical_specialty, Latin Americans, Human intelligence, business.industry, Public health, medicine.disease, Polygenic trait, Intellectual disability, Etiology, medicine, Life expectancy, Health maintenance, General Agricultural and Biological Sciences, Psychiatry, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bc9ddda4cfe3a6cfd14d1eef843d75fdTest
https://doi.org/10.20453/rnp.v84i1.3936Test -
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المصدر: Revista de la Facultad de Medicina Humana, Vol 21, Iss 2, Pp 399-416 (2021)
Revista de la Facultad de Medicina Humana; Vol 21 No 2 (2021): Revista de la Facultad de Medicina Humana
Revista de la Facultad de Medicina Humana; Vol. 21 Núm. 2 (2021): Revista de la Facultad de Medicina Humana
Revistas Universidad Ricardo Palma
Universidad Ricardo Palma
instacron:URPمصطلحات موضوعية: therapy, lcsh:R5-920, business.industry, Células Madre hematopoyéticas, lcsh:R, lcsh:Medicine, General Medicine, Bioinformatics, Genetic therapy, hematopoietic stem cells, terapia genética, trasplantes, genetic diseases, terapias, Medicine, transplant, business, Enfermedades genética, lcsh:Medicine (General), genetic therapy
وصف الملف: application/pdf; text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba1f18d747c701dc87f1e8c8bdf80b11Test
http://revistas.urp.edu.pe/index.php/RFMH/article/view/3626Test -
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المؤلفون: Hugo Hernán, Abarca Barriga, Felix, Chavesta Velásquez, Claudia, Barletta Carrillo, Abel, Paucarmayta Tacuri, Margaret, Bazán Hurtado, Tania, Vásquez Loarte, Luis, Ordoñez Rondón, Marco, Ordoñez Linares, Evelina Andrea, Rondón Abuhadba
المصدر: Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina). 79(2)
مصطلحات موضوعية: Parents, Consanguinity, DNA Copy Number Variations, Altitude, Peru, Infant, Newborn, Humans, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::1f274c90686cf6aa50c8635d51df7d2eTest
https://pubmed.ncbi.nlm.nih.gov/35700460Test -
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المؤلفون: Flor Vásquez Sotomayor, Jorge La Serna Infantes, Tania Vasquez Loarte, Julio Antonio Poterico Rojas, Nathaly Caballero Bedón, Hugo Hernán Abarca Barriga, Milana Trubnykova, Felix Chavesta Velasquez, Bertha Elena Gallardo Jugo, Miguel A. Chavez Pastor
المصدر: Acta Médica Peruana, Vol 37, Iss 2 (2020)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, General Computer Science, medicine.diagnostic_test, business.industry, lcsh:R, trastorno del espectro autista, lcsh:Medicine, Consanguinity, medicine.disease, Short stature, Idiopathic short stature, Loss of heterozygosity, Autism spectrum disorder, Malformative syndrome, Intellectual disability, Medicine, discapacidad intelectual, pruebas genéticas, variaciones en el número de copia de adn, medicine.symptom, business, discapacidades del desarrollo, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f18e66e943f66fc3fbeebd1ad4aa29b6Test
https://amp.cmp.org.pe/index.php/AMP/article/view/915Test -
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المؤلفون: Miguel A. Chavez Pastor, Jorge La Serna-Infantes, Felix Chavesta Velasquez, Milana Trubnykova, Flor Vásquez Sotomayor, Hugo Hernán Abarca Barriga
المصدر: European Journal of Medical Genetics. 61:388-392
مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Trichothiodystrophy, Biology, medicine.disease_cause, Short stature, 03 medical and health sciences, Peru, Genetics, medicine, Humans, Trichothiodystrophy Syndromes, Child, Amino Acid Metabolism, Inborn Errors, Gene, Genetics (clinical), Adaptor Proteins, Signal Transducing, Chromosome 7 (human), Mutation, Glutaric aciduria, Chromosome, General Medicine, Microarray Analysis, medicine.disease, 030104 developmental biology, Female, Coenzyme A-Transferases, medicine.symptom, Oxidoreductases, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b132ccaabd4f9232361509ac97fbab8dTest
https://doi.org/10.1016/j.ejmg.2018.02.004Test -
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المؤلفون: Antonio R. Porras, Meow-Keong Thong, Katta M. Girisha, Miguel Chávez Pastor, Angélica Moresco, Premala Muthukumarasamy, María Gabriela Obregon, Ee Shien Tan, Gary T. K. Mok, Maximilian Muenke, Engela Honey, Cedrik Tekendo-Ngongang, Alec P. Boyle, E.V. Badoe, Laila Bouguenouch, Colleen A. Morris, Rupesh Mishra, Angeline Lai, Bertha Elena Gallardo Jugo, Adebowale Adeyemo, Deise Helena de Souza, Saumya Shekhar Jamuar, María Beatriz de Herreros, Karim Ouldim, Beth A. Kozel, Ashleigh D. Gill, Danilo Moretti-Ferreira, Mieke M. van Haelst, Ivan F M Lo, Vajira H. W. Dissanayake, Pranoot Tanpaiboon, Carlos Ferreira, Nirmala D. Sirisena, Leah Dowsett, Marshall L. Summar, Tommy Hu, Hugo Hernán Abarca Barriga, Dalia Farouk Hussen, Monisha S. Kisling, Milana Trubnykova, Ni-Chung Lee, Victoria Huckstadt, Marius George Linguraru, A. Micheil Innes, Eloise J. Prijoles, Vorasuk Shotelersuk, Khadija Belhassan, Brian H.Y. Chung, Jiin Ying Lim, Paul Kruszka, Anju Shukla, Ramses Badilla-Porras, Roger E. Stevenson, Siddaramappa J. Patil, Yonit A. Addissie, C. Sampath Paththinige, Ambroise Wonkam, Ihssane El Bouchikhi, Engy A. Ashaat, Mona O. El Ruby, Stephanie Lotz-Esquivel, André Mégarbané, Jorge La Serna, Cham Breana Wen-Min, HM Luk, Karen Fieggen, Alison Eaton, Neerja Gupta, Kelly L. Jones
المساهمون: Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human genetics
المصدر: American Journal of Medical Genetics Part A, 176(5), 1128-1136. Wiley-Liss Inc.
Kruszka, P, Porras, A R, de Souza, D H, Moresco, A, Huckstadt, V, Gill, A D, Boyle, A P, Hu, T, Addissie, Y A, Mok, G T K, Tekendo-Ngongang, C, Fieggen, K, Prijoles, E J, Tanpaiboon, P, Honey, E, Luk, H-M, Lo, I F M, Thong, M-K, Muthukumarasamy, P, Jones, K L, Belhassan, K, Ouldim, K, El Bouchikhi, I, Bouguenouch, L, Shukla, A, Girisha, K M, Sirisena, N D, Dissanayake, V H W, Paththinige, C S, Mishra, R, Kisling, M S, Ferreira, C R, de Herreros, M B, Lee, N-C, Jamuar, S S, Lai, A, Tan, E S, Ying Lim, J, Wen-Min, C B, Gupta, N, Lotz-Esquivel, S, Badilla-Porras, R, Hussen, D F, El Ruby, M O, Ashaat, E A, Patil, S J, Dowsett, L, Eaton, A, Innes, A M, Shotelersuk, V, Badoe, Ë, Wonkam, A, Obregon, M G, Chung, B H Y, Trubnykova, M, La Serna, J, Gallardo Jugo, B E, Chávez Pastor, M, Abarca Barriga, H H, Megarbane, A, Kozel, B A, van Haelst, M M, Stevenson, R E, Summar, M, Adeyemo, A A, Morris, C A, Moretti-Ferreira, D, Linguraru, M G & Muenke, M 2018, ' Williams-Beuren syndrome in diverse populations ', American Journal of Medical Genetics Part A, vol. 176, no. 5, pp. 1128-1136 . https://doi.org/10.1002/ajmg.a.38672Testمصطلحات موضوعية: Williams Syndrome, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Population, Ethnic group, 030105 genetics & heredity, Sensitivity and Specificity, Article, Genetic Heterogeneity, 03 medical and health sciences, Population Groups, Intellectual disability, Genetics, medicine, Humans, cardiovascular diseases, education, Genetics (clinical), education.field_of_study, Anthropometry, Genetic heterogeneity, business.industry, Facies, Reproducibility of Results, Microdeletion syndrome, medicine.disease, Phenotype, Biological Variation, Population, Cohort, Williams syndrome, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e32d4933dafcf00d120fc6f768507dadTest
https://doi.org/10.1002/ajmg.a.38672Test -
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المؤلفون: Victoria Polar Córdoba, Nélida Aviles Alfaro, Milana Trubnykova, Katherine Joyce Ramos Diaz, Hugo Hernán Abarca Barriga
المصدر: Revista chilena de pediatría v.87 n.6 2016
SciELO Chile
CONICYT Chile
instacron:CONICYTمصطلحات موضوعية: 0301 basic medicine, Hypertrichosis, medicine.medical_specialty, Pathology, Gen SLC29A3, SLC29A3 gene, H syndrome, Genetic counseling, Disease, 030105 genetics & heredity, Hyperpigmentation with hypertrichosis, Short stature, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Síndrome H, Medicine, Pediatrics, Perinatology, and Child Health, business.industry, Genetic disorder, Hiperpigmentación con hipertricosis, medicine.disease, Dermatology, Hyperpigmentation, Testicular tumours, Sensorineural hearing loss, Tumoraciones testiculares, Pediatrics, Perinatology and Child Health, Histopathology, medicine.symptom, business, Hipoacusia
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc526135f7f4b658125f562e6bf4ac1Test
https://doi.org/10.1016/j.rchipe.2016.03.006Test