المؤلفون: Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)

مصطلحات موضوعية: Angelman syndrome (AS), UBE3A, Intragenic deletions, MLPA, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-017-0500-x; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/78683611a3034c6699fa4b8a10379abe

المؤلفون: María González-Tablas, Daniel Arandia, María Jara-Acevedo, Álvaro Otero, Ana-Luisa Vital, Carlos Prieto, Nerea González-Garcia, Ana Belén Nieto-Librero, Herminio Tao, Daniel Pascual, Laura Ruiz, Pablo Sousa, Purificación Galindo-Villardón, Alberto Orfao, María Dolores Tabernero

المصدر: Cancers, Vol 12, Iss 1, p 231 (2020)

مصطلحات موضوعية: glioblastoma, gene expression profile, amplification, intragenic deletions, heterogeneity, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6694/12/1/231; https://doaj.org/toc/2072-6694

URL الوصول: https://doaj.org/article/64205b36f39749febe2587ea566062cb

المؤلفون: Searle, Claire^Aff8, Andresen, Brage Storstein^Aff9, Wraith, Ed^Aff10, Higgs, Jamie^Aff11, Gray, Deborah^Aff12, Mills, Alison^Aff12, Allen, K. Elizabeth^Aff13, Hobson, Emma^Aff8

المساهمون: Zschocke, Johannes, Editor-in-chief^{Aff1, Aff3}, Gibson, K Michael, Editor-in-chief^{Aff2, Aff4}, Brown, Garry, editor^Aff5, Morava, Eva, editor^Aff6, Peters, Verena, editor^Aff7

المصدر: JIMD Reports - Volume 11. 11:13-16

المؤلفون: Esther López-Bayghen, Ariadna González-del Angel, Felipe Camargo-Diaz, Adina Neumann, Miguel Angel Alcántara-Ortigoza

المصدر: World Journal of Clinical Cases

مصطلحات موضوعية: Growth hormone insensitivity, Growth hormone receptor mutations, law.invention, 03 medical and health sciences, 0302 clinical medicine, law, Intragenic deletions, Case report, Laron syndrome, medicine, Monoplex, Polymerase chain reaction, Whole Genome Amplification, biology, business.industry, General Medicine, medicine.disease, biology.organism_classification, Virology, Embryo diagnosis, 030220 oncology & carcinogenesis, 030211 gastroenterology & hepatology, Molecular diagnosis, business, Chain reaction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c032543549d1f727f71bd673b74a0ee5
http://europepmc.org/articles/PMC6906563

المؤلفون: Cherrallah, Amira, Benhassine, Traki, Nouioua, Sonia, Makri, Samira, Chaouch, Malika, Tazir, Meriem, Hamadouche, Tarik

المصدر: Genes & Genomics. February 2014 36(1):17-24

المؤلفون: María Jara-Acevedo, María González-Tablas, Nerea González-García, Álvaro Otero, Ana B. Nieto-Librero, Daniel Pascual, Alberto Orfao, Carlos Prieto, María Dolores Tabernero, Laura Ruiz, Purificación Galindo-Villardón, Pablo Sousa, Hermínio Tão, Daniel Arandia, Ana-Luisa Vital

المساهمون: Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), European Commission

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Cancers
Volume 12
Issue 1
Cancers, Vol 12, Iss 1, p 231 (2020)

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Platelet-Derived Growth Factor Receptor Alpha, PDGFRA, amplification, lcsh:RC254-282, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, Intragenic deletions, Gene expression, medicine, Epidermal growth factor receptor, Gene, Chromosome 7 (human), Polysomy, biology, glioblastoma, Gene expression profile, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, 030104 developmental biology, intragenic deletions, Oncology, 030220 oncology & carcinogenesis, Cancer research, biology.protein, gene expression profile, heterogeneity, Heterogeneity, Glioblastoma

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6984f746c07b48d6cfc9bc541eea313f
http://hdl.handle.net/10261/222861

المؤلفون: Ericka Barbosa Trarbach, Isabella Lopes Monlleo, Carlos Guilherme Gaelzer Porciuncula, Marshall Italo Barros Fontes, Maria Teresa Mathias Baptista, Christine Hackel

المصدر: Genetics and Molecular Biology, Vol 27, Iss 3, Pp 337-341 (2004)

مصطلحات موضوعية: X-linked KS, intragenic deletions, KAL-1 gene, PCR, phenotypic variability, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300006; https://doaj.org/toc/1415-4757; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/db9bd526fc1c4b0abaa329071d3aff1c

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Aguilera, Cinthia, Viñas-Jornet, Marina, Baena Díez, Neus, Gabau, Elisabeth, Fernández, Concepción, Capdevila, Núria, Cirkovic, Sanja, Sarajlija, Adrijan, Miskovic, Marijana, Radivojevic, Danijela, Ruiz, Anna, Guitart, Míriam, Universitat Autònoma de Barcelona

المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
BMC Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, lcsh:Internal medicine, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Ubiquitin-Protein Ligases, Gene Dosage, Case Report, 030105 genetics & heredity, Biology, Gene dosage, Genomic Imprinting, 03 medical and health sciences, Exon, Intragenic deletions, Angelman syndrome, Genetics, medicine, UBE3A, Humans, Multiplex ligation-dependent probe amplification, lcsh:RC31-1245, Genetics (clinical), Sequence Deletion, Neurons, Chromosomes, Human, Pair 15, Base Sequence, Exons, Nucleic acid amplification technique, medicine.disease, Human genetics, MLPA, 3. Good health, lcsh:Genetics, Child, Preschool, Female, Angelman syndrome (AS), Reagent Kits, Diagnostic, Angelman Syndrome, Genomic imprinting, Nucleic Acid Amplification Techniques

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aea303faebdce17dccad51b75e81312c
https://doi.org/10.1186/s12881-017-0500-x

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.