المؤلفون: Pettersson, M, Grochowski, CM, Wincent, J, Eisfeldt, J, Breman, AM, Cheung, SW, Krepischi, ACV, Rosenberg, C, Lupski, JR, Ottosson, J, Lovmar, L, Gacic, J, Lundberg, ES, Nilsson, D, Carvalho, CMB, Lindstrand, A

المصدر: Human mutation. 41(11):1979-1998

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144811583

المؤلفون: Laurell, T, Lundin, J, Anderlid, BM, Gorski, JL, Grigelioniene, G, Knight, SJL, Krepischi, ACV, Nordenskjold, A, Price, SM, Rosenberg, C, Turnpenny, PD, Vianna-Morgante, AM, Nordgren, A

المصدر: European journal of human genetics : EJHG. 21(10):1085-1092

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:127482392

المؤلفون: Grochowski, CM, Krepischi, ACV, Eisfeldt, J, Du, HW, Bertola, DR, Oliveira, D, Costa, SS, Lupski, JR, Lindstrand, A, Carvalho, CMB

المصدر: Frontiers in genetics. 12:708348

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:147672036

المؤلفون: Carneiro TNR, Krepischi ACV, Costa SS, Tojal da Silva I, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, Rosenberg C

المصدر: The Application of Clinical Genetics, Vol Volume 11, Pp 93-98 (2018)

مصطلحات موضوعية: exome, intellectual disability, next generation sequencing, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/utility-of-trio-based-exome-sequencing-in-the-elucidation-of-the-genet-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/d007d296c690431ca21f6c63b9119b98

المؤلفون: Pettersson, M, Grochowski, CM, Wincent, J, Eisfeldt, J, Cheung, SW, Krepischi, ACV, Rosenberg, C, Lupski, JR, Ottosson, J, Lovmar, L, Gacic, J, Lundberg, ES, Nilsson, D, Carvalho, CMB, Lindstrand, A

المصدر: MOLECULAR CYTOGENETICS. 12

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141283200

المؤلفون: Grochowski, CM, Pettersson, M, Eisfeldt, J, Gandhi, M, Pehlivan, D, Gonzaga-Jauregui, C, Withers, M, Stankiewicz, P, Krepischi, ACV, Lupski, JR, Lindstrand, A, Carvalho, CMB

المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS. 28(SUPPL 1):117-118

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145585113

المؤلفون: Aguiar T, Carla Rosenberg, João Pedreira Duprat, Sá Bcsd, Krepischi Acv, Araujo Essd, Dimitrius T. Pramio, Carraro, Achatz Miw, Luciana Facure Moredo

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Genetics, DOENÇAS HEREDITÁRIAS (GENÉTICA), Melanoma patient, integumentary system, business.industry, Melanoma, medicine.disease, Microphthalmia-associated transcription factor, Germline, Germline mutation, CDKN2A, medicine, business, neoplasms, Single mutation, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1936ac34b38a4f964442da44b224919f

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المؤلفون: Tolezano GC; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Bastos GC; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., da Costa SS; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Scliar MO; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., de Souza CFM; Postgraduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Van Der Linden H Jr; Rehabilitation Center Dr. Hennrique Sanntillo, Goiânia, GO, Brazil., Fernandes WLM; Department of Pediatrics, College of Medicine of Pouso Alegre, Pouso Alegre, MG, Brazil., Otto PA; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Vianna-Morgante AM; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Haddad LA; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil., Honjo RS; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Yamamoto GL; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil.; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Kim CA; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Rosenberg C; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil., Jorge AAL; Unidade de Endocrinologia Genética (LIM25), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Bertola DR; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil.; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Krepischi ACV; Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem-Cell Research Center, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil. ana.krepischi@ib.usp.br.

المصدر: Molecular neurobiology [Mol Neurobiol] 2024 Aug; Vol. 61 (8), pp. 5230-5247. Date of Electronic Publication: 2024 Jan 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

مواضيع طبية MeSH: Microcephaly*/genetics , Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/diagnosis, Humans ; Brazil ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Exome Sequencing ; Syndrome ; Young Adult ; Cohort Studies ; Adult ; Infant

المؤلفون: Mazzonetto PC; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Villela D; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Krepischi ACV; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Pierry PM; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Bonaldi A; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Almeida LGD; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Paula MG; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Bürger MC; Diagnósticos da América S.A., DASA, São Paulo, Brazil., de Oliveira AG; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Fonseca GGG; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Giugliani R; Diagnósticos da América S.A., DASA, São Paulo, Brazil.; Casa dos Raros - House of Rares, Centro de Atenção Integral e Treinamento em Doenças Raras, Porto Alegre, Brazil.; INAGEMP, Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil., Riegel-Giugliani M; Casa dos Raros - House of Rares, Centro de Atenção Integral e Treinamento em Doenças Raras, Porto Alegre, Brazil.; INAGEMP, Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil., Bertola D; Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Yamamoto GL; Diagnósticos da América S.A., DASA, São Paulo, Brazil.; Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Passos-Bueno MR; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Campos GDS; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Machado ACD; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Mazzeu JF; Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil., Perrone E; Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, Brazil., Zechi-Ceide RM; Department of Clinical Genetics and Molecular Biology, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil., Kokitsu-Nakata NM; Department of Clinical Genetics and Molecular Biology, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil., Vieira TP; Department of Translational Medicine - Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas, São Paulo, Brazil., Steiner CE; Department of Translational Medicine - Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas, São Paulo, Brazil., Gil-da-Silva-Lopes VL; Department of Translational Medicine - Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas, São Paulo, Brazil., Vieira DKR; Municipal Secretary of Health of Angra dos Reis, Rio de Janeiro, Brazil.; National Institute of Women, Children and Adolescents Health Fernandes Figueira/Oswaldo Cruz Foundation (IFF/FIOCRUZ), Rio de Janeiro, Brazil., Boy R; State University of Rio de Janeiro, Rio de Janeiro, Brazil., de Pina-Neto JM; Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, São Paulo, Brazil., Scapulatempo-Neto C; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Milanezi F; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Rosenberg C; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.; Diagnósticos da América S.A., DASA, São Paulo, Brazil.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun 25, pp. e63802. Date of Electronic Publication: 2024 Jun 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE