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Artigo de periodico
Molecular and clinical delineation of the 17q22 microdeletion phenotype (2013)
Laurell, Tobias; Lundin, Johanna; Anderlid, Britt-Marie; Gorski, Jerome L; Grigelioniene, Giedre; Knight, Samantha J. L; Krepischi, Ana Cristina Victorino ; Nordenskjöld, Agneta; Price, Susan M; Rosenberg, Carla ; Turnpenny, Peter D; Vianna-Morgante, Angela M ; Nordgren, Ann
Source: European Journal of Human Genetics. Unidade: IB
Subjects: FENÓTIPOS, ANOMALIA FACIAL, RETARDO MENTAL, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LAURELL, Tobias et al. Molecular and clinical delineation of the 17q22 microdeletion phenotype. European Journal of Human Genetics, v. 21, n. 10, p. 1085-1092, 2013Tradução . . Disponível em: https://doi.org/10.1038/ejhg.2012.306. Acesso em: 01 nov. 2024.
APA
Laurell, T., Lundin, J., Anderlid, B. -M., Gorski, J. L., Grigelioniene, G., Knight, S. J. L., et al. (2013). Molecular and clinical delineation of the 17q22 microdeletion phenotype. European Journal of Human Genetics, 21( 10), 1085-1092. doi:10.1038/ejhg.2012.306
NLM
Laurell T, Lundin J, Anderlid B-M, Gorski JL, Grigelioniene G, Knight SJL, Krepischi ACV, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A. Molecular and clinical delineation of the 17q22 microdeletion phenotype [Internet]. European Journal of Human Genetics. 2013 ; 21( 10): 1085-1092.[citado 2024 nov. 01 ] Available from: https://doi.org/10.1038/ejhg.2012.306
Vancouver
Laurell T, Lundin J, Anderlid B-M, Gorski JL, Grigelioniene G, Knight SJL, Krepischi ACV, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A. Molecular and clinical delineation of the 17q22 microdeletion phenotype [Internet]. European Journal of Human Genetics. 2013 ; 21( 10): 1085-1092.[citado 2024 nov. 01 ] Available from: https://doi.org/10.1038/ejhg.2012.306
Artigo de periodico
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features (2012)
Molin, A. M; Andrieux, J; Koolen, D. A; Malan, V; Carella, M; Colleaux, L; Cormier-Daire, V; David, A; Leeuw, N de; Delobel, B; Duban-Bedu, B; Fischetto, R; Flinter, F; Kjaergaard, S; Kok, Fernando; Krepischi, Ana Cristina Victorino ; Le Caignec, C; Mackie Ogilvie, C; Maia, S; Mathieu-Dramard, M; Minnich, A; Palumbo, O; Papadia, F; Pfundt, R; Reardon, W; Receveur, A; Rio, M; Ronsbro Darling,L; Rosenberg, Carla ; Sá, J; Vallee, L; Vincent-Delorme, C; Zelante, L; Bondeson, M-L; Annerén, G
Source: Journal of Medical Genetics. Unidade: IB
Subjects: RETARDO MENTAL, GENÓTIPOS, FENÓTIPOS, ANOMALIA FACIAL, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MOLIN, A. M et al. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics, v. 49, n. 2, p. 104-109, 2012Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2011-100534. Acesso em: 01 nov. 2024.
APA
Molin, A. M., Andrieux, J., Koolen, D. A., Malan, V., Carella, M., Colleaux, L., et al. (2012). A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of Medical Genetics, 49( 2), 104-109. doi:10.1136/jmedgenet-2011-100534
NLM
Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, Leeuw N de, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi ACV, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Minnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson M-L, Annerén G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 104-109.[citado 2024 nov. 01 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100534
Vancouver
Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, Leeuw N de, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi ACV, Le Caignec C, Mackie Ogilvie C, Maia S, Mathieu-Dramard M, Minnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson M-L, Annerén G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features [Internet]. Journal of Medical Genetics. 2012 ; 49( 2): 104-109.[citado 2024 nov. 01 ] Available from: https://doi.org/10.1136/jmedgenet-2011-100534
Artigo de periodico
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene (2007)
Bertola, Débora Romeo; Pereira, Alexandre Costa; Brasil, Amanda Salem; Albano, Lilian Maria José; Kim, Chong Ae; Krieger, José Eduardo
Source: Journal of Human Genetics. Unidades: IB, FM
Subjects: CRESCIMENTO (DEFICIÊNCIA), RETARDO MENTAL, ANOMALIA FACIAL, GENES, ANOMALIA CRANIOFACIAL
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BERTOLA, Débora Romeo et al. Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. Journal of Human Genetics, v. 52, n. 6, p. 521-526, 2007Tradução . . Disponível em: https://doi.org/10.1007/s10038-007-0146-1. Acesso em: 01 nov. 2024.
APA
Bertola, D. R., Pereira, A. C., Brasil, A. S., Albano, L. M. J., Kim, C. A., & Krieger, J. E. (2007). Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. Journal of Human Genetics, 52( 6), 521-526. doi:10.1007/s10038-007-0146-1
NLM
Bertola DR, Pereira AC, Brasil AS, Albano LMJ, Kim CA, Krieger JE. Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene [Internet]. Journal of Human Genetics. 2007 ; 52( 6): 521-526.[citado 2024 nov. 01 ] Available from: https://doi.org/10.1007/s10038-007-0146-1
Vancouver
Bertola DR, Pereira AC, Brasil AS, Albano LMJ, Kim CA, Krieger JE. Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene [Internet]. Journal of Human Genetics. 2007 ; 52( 6): 521-526.[citado 2024 nov. 01 ] Available from: https://doi.org/10.1007/s10038-007-0146-1

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