المؤلفون: Nevado, Julián, Mergener, Rafaella, Palomares-Bralo, María, Souza, Karen Regina, Vallespín, Elena, Mena, Rocío, Martínez-Glez, Víctor, Mori, María Ángeles, Santos, Fernando, García-Miñaur, Sixto, García-Santiago, Fé, Mansilla, Elena, Fernández, Luis, Torres, María Luisa de, Riegel, Mariluce, Lapunzina, Pablo

المصدر: Genetics and Molecular Biology. January 2014 37(1)

مصطلحات موضوعية: microdeletion, microduplication, chromosome rearrangement, novel deletions, novel duplications

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200007Test

المؤلفون: Ferrão, José, Silva, Marisa, Gonçalves, Lúcia, Gomes, Susana, Loureiro, Pedro, Coelho, Andreia, Miranda, Armandina, Seuanes, Filomena, Reis, Ana Batalha, Pina, Francisca, Maia, Raquel, Kjollerstrom, Paula, Monteiro, Estela, Lacerda, João F., Lavinha, João, Gonçalves, João, Faustino, Paula

مصطلحات موضوعية: ATMDS, Acquired HbH, Alpha-thalassemia, MLPA, Novel Deletions, Talassemia, Doenças Raras, Doenças Genéticas, Hemoglobinopatias, Hemoglobina H

العلاقة: https://link.springer.com/article/10.1007%2Fs00277-017-3090-yTest; Ann Hematol. 2017 Nov;96(11):1921-1929. doi:10.1007/s00277-017-3090-y. Epub 2017 Sep 8.; ESSN: 1432-0584; http://hdl.handle.net/10400.18/4790Test

الإتاحة: https://doi.org/10.1007/s00277-017-3090-yTest
http://hdl.handle.net/10400.18/4790Test

المؤلفون: Julián Nevado, Rafaella Mergener, María Palomares-Bralo, Karen Regina Souza, Elena Vallespín, Rocío Mena, Víctor Martínez-Glez, María Ángeles Mori, Fernando Santos, Sixto García-Miñaur, Fé García-Santiago, Elena Mansilla, Luis Fernández, María Luisa de Torres, Mariluce Riegel, Pablo Lapunzina

المصدر: Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 210-219 (2014)

مصطلحات موضوعية: microdeletion, microduplication, chromosome rearrangement, novel deletions, novel duplications, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200007&lng=en&tlng=enTest; https://doaj.org/toc/1678-4685Test

الوصول الحر: https://doaj.org/article/6101bc0de0dd4288ba9efef3ffc10c8eTest

المؤلفون: Li Du, Ying Xiong, Chang Liu, Aihua Yin, Xin Zhao, Yunan Wang, Danqing Qin, Ling Liu, Jicheng Wang, Liyuan Fang, Jian Lu, Jing Wu

المصدر: The Journal of International Medical Research
Journal of International Medical Research, Vol 49 (2021)

مصطلحات موضوعية: Medicine (General), China, Hemoglobins, Abnormal, Hydrops Fetalis, Case Report, Disease cluster, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, R5-920, alpha-Globins, alpha-Thalassemia, Pregnancy, Prenatal Diagnosis, Medicine, Edema, Humans, Multiplex ligation-dependent probe amplification, α globin gene, multiplex ligation-dependent probe amplification, –SEA deletion, Hydrops foetalis, 030219 obstetrics & reproductive medicine, business.industry, Biochemistry (medical), α-thalassaemia, Cell Biology, General Medicine, Molecular biology, Multigene Family, Haemoglobin Bart’s hydrops, Female, business, SNP array, Gene Deletion, 030215 immunology, novel deletions

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f063146d58a959849289f5043823524Test
http://europepmc.org/articles/PMC7897832Test

المؤلفون: Estela Monteiro, Filomena Seuanes, João Lavinha, Lúcia Gonçalves, Armandina Miranda, Paula Kjöllerström, Paula Faustino, Andreia Coelho, Ana Batalha Reis, José Ferrão, Marisa Silva, Francisca Pina, Susana Gomes, João Gonçalves, João F. Lacerda, Pedro Loureiro, Raquel Ciuvalschi Maia

المساهمون: Repositório da Universidade de Lisboa

المصدر: Annals of Hematology
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Novel deletions, Adolescent, ATMDS, Alpha-thalassemia, Biology, DNA sequencing, Loss of heterozygosity, Hemoglobins, Young Adult, 03 medical and health sciences, Chromosome 16, alpha-Thalassemia, Talassemia, hemic and lymphatic diseases, Gene cluster, Doenças Raras, medicine, Humans, Point Mutation, Acquired HbH, Hemoglobinopatias, Child, Indel, Gene, Genetics, Base Sequence, Breakpoint, Hematology, General Medicine, Middle Aged, medicine.disease, MLPA, Doenças Genéticas, 030104 developmental biology, Novel Deletions, Female, Hemoglobina H, Gene Deletion

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7131876704925b80cbe1d96d2508f04Test
https://hdl.handle.net/10400.18/4790Test

المؤلفون: Elena Vallespín, Sixto García-Miñaur, Luis J. Fernández, Pablo Lapunzina, Mariluce Riegel, Fe Amalia García-Santiago, María Palomares-Bralo, Rocío Mena, Rafaella Mergener, Julián Nevado, Elena Mansilla, Karen Regina Silva de Souza, María Ángeles Mori, Fernando Santos, Victor Martinez-Glez, María Luisa de Torres

المصدر: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology v.37 n.1 suppl.1 2014
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 37, Issue: 1 Supplement 1, Pages: 210-219, Published: 2014
ResearcherID
Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 210-219 (2014)

مصطلحات موضوعية: Genetics, Chromosome rearrangement, Novel deletions, lcsh:QH426-470, microduplication, Microduplication, Review Article, Chromosomal rearrangement, novel duplications, Biology, medicine.disease, Autistic spectrum, Novel duplications, lcsh:Genetics, Deleção cromossômica, Duplicação cromossômica, chromosome rearrangement, Intellectual disability, medicine, Microdeletion, microdeletion, Molecular Biology, novel deletions, Rearranjo gênico

وصف الملف: application/pdf; text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff8d583f4cb21afabc094bae34cd613Test

المؤلفون: Pekkarinen, T.A., Lorenz-Depiereux, B., Lohman, M., Mäkitie, O.M.

المصدر: Am. J. Med. Genet. A 164, 2931-2937 (2014)

مصطلحات موضوعية: Novel Deletions/insertion In Phex Gene, Severe Phenotype, X-linked Hypophosphatemia

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000344187200036; info:eu-repo/semantics/altIdentifier/isbn/1552-4825; info:eu-repo/semantics/altIdentifier/pissn/0148-7299; info:eu-repo/semantics/alt; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=32701Test; urn:isbn:1552-4825; urn:issn:0148-7299; urn:issn:1096-8628

الإتاحة: https://doi.org/10.1002/ajmg.a.36721Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=32701Test