학술논문

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학술논문
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'학술논문' 에서의 검색결과 6건 | 목록 1~10

  • 1 .
    Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension
    저자
    by Emilia M. Swietlik; Daniel Greene; Na Zhu; Karyn Megy; Marcella Cogliano, et al. 
    소스
    Circulation: Genomic and Precision Medicine
    Circulation: Genomic and Precision Medicine, American Heart Association, 2020, ⟨10.1161/CIRCGEN.120.003155⟩
    Circulation. Genomic and Precision Medicine
    Circulation. Genomic and precision medicine, 14(1):e003155. Lippincott Williams and Wilkins Ltd.
    morrell 2021, ' Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension ', Circulation. Genomic and precision medicine, vol. 14, no. 1, e003155 . https://doi.org/10.1161/CIRCGEN.120.003155
    Circulation: Genomic and Precision Medicine, 2020, ⟨10.1161/CIRCGEN.120.003155⟩
  • 7 .
    Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations
    저자
    by Tiziana Lorenzini; Manfred Fliegauf; Nils Klammer; Natalie Frede; Michele Proietti, et al. 
    소스
    Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
    Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
    instacron:RCAAP
    Journal of Allergy and Clinical Immunology, 146(4), 901-911. Mosby Inc.
    Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, J W M, Ameratunga, R, Roifman, C M, Schejter, Y D, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, R E, Schröder, C, Stepensky, P, Shadur, B, Pedroza, L A, van der Flier, M, Martínez-Gallo, M, Gonzalez-Granado, L I, Allende, L M, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, J F, Svec, P, Fischer, U, Ip, W, Bartsch, O, Barış, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Dos Santos Vilela, M M, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Piquer-Gibert, M, Deyà-Martínez, A, Slade, C A, Aghamohammadi, A, Abolhassani, H, Hammarström, L, Kuismin, O, Helminen, M, Allen, H L, Thaventhiran, J E, Freeman, A F, Cook, M, Bakhtiar, S, Christiansen, M, Cunningham-Rundles, C, Patel, N C, Rae, W, Niehues, T, Brauer, N, Syrjänen, J, Seppänen, M R J, Burns, S O, Tuijnenburg, P, Kuijpers, T W, Warnatz, K, Grimbacher, B & NIHR BioResource 2020, ' Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations ', Journal of Allergy and Clinical Immunology, vol. 146, no. 4, pp. 901-911 . https://doi.org/10.1016/j.jaci.2019.11.051
    Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, J W M, Ameratunga, R, Roifman, C M, Schejter, Y D, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, R E, Schröder, C, Stepensky, P, Shadur, B, Pedroza, L A, van der Flier, M, Martínez-Gallo, M, Gonzalez-Granado, L I, Allende, L M, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, J F, Svec, P, Fischer, U, Ip, W, Bartsch, O, Barış, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Dos Santos Vilela, M M, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Christiansen, M & NIHR BioResource 2020, ' Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations ', Journal of Allergy and Clinical Immunology, vol. 146, no. 4, pp. 901-911 . https://doi.org/10.1016/j.jaci.2019.11.051
    J Allergy Clin Immunol
    Journal of allergy and clinical immunology, 146(4), 901-911. Mosby Inc.
    Journal of Allergy and Clinical Immunology, 146, 901-911
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
    r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
    Fundació Sant Joan de Déu
    r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
    instname
    Journal of Allergy and Clinical Immunology, 146, 4, pp. 901-911
  • 7 .
    Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
    저자
    by Gavin Arno; Keren J. Carss; Sarah Hull; Ceniz Zihni; Anthony G. Robson, et al. 
    소스
    UK Inherited Retinal Disease Consortium, NIHR BioResource Rare Diseases Consortium, NIHR BioResource Rare Diseases Consortium & NIHR Bioresource – Rare Diseases Consortium 2017, ' Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration ', American journal of human genetics, vol. 100, no. 2, pp. 334-342 . https://doi.org/10.1016/j.ajhg.2016.12.014
    American journal of human genetics, vol 100, iss 2
    American journal of human genetics, 100(2), 334-342. Cell Press
    American Journal of Human Genetics, 100(2), 334-342. Cell Press
  • 7 .
    Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
    저자
    by Keren J. Carss; Gavin Arno; Marie Erwood; Jonathan Stephens; Alba Sanchis-Juan, et al. 
    소스
    American journal of human genetics, 100(1), 75-90. Cell Press
    Carss, K J, Arno, G, Erwood, M, Stephens, J, Sanchis-Juan, A, Hull, S, Megy, K, Grozeva, D, Dewhurst, E, Malka, S, Plagnol, V, Penkett, C, Stirrups, K, Rizzo, R, Wright, G, Josifova, D, Bitner-Glindzicz, M, Scott, R H, Clement, E, Allen, L, Armstrong, R, Brady, A F, Carmichael, J, Chitre, M, Henderson, R H H, Hurst, J, MacLaren, R E, Murphy, E, Paterson, J, Rosser, E, Thompson, D A, Wakeling, E, Ouwehand, W H, Michaelides, M, Moore, A T, Webster, A R, Raymond, F L & Westbury, S 2017, ' Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease ', American Journal of Human Genetics, vol. 100, no. 1, pp. 75-90 . https://doi.org/10.1016/j.ajhg.2016.12.003
    American journal of human genetics, vol 100, iss 1
    American Journal of Human Genetics, 100(1), 75-90. Cell Press
    NIHR BioResource Rare Diseases Consortium 2017, ' Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease ', American journal of human genetics, vol. 100, no. 1, pp. 75-90 . https://doi.org/10.1016/j.ajhg.2016.12.003
  • 7 .
    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
    저자
    by Kathleen M. Gorman; Esther Meyer; Detelina Grozeva; Egidio Spinelli; Amy McTague, et al. 
    소스
    Gorman, K M, Meyer, E, Grozeva, D, Spinelli, E, McTague, A, Sanchis-Juan, A, Carss, K J, Bryant, E, Reich, A, Schneider, A L, Pressler, R M, Simpson, M A, Debelle, G D, Wassmer, E, Morton, J, Sieciechowicz, D, Jan-Kamsteeg, E, Paciorkowski, A R, King, M D, Cross, J H, Poduri, A, Mefford, H C, Scheffer, I E, Haack, T B, McCullagh, G, Deciphering Developmental Disorders Study, NIHR BioResource, UK10K Consortium, Millichap, J J, Carvill, G L, Clayton-Smith, J, Maher, E R, Raymond, F L & Kurian, M A 2019, ' Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia ', American journal of human genetics, vol. 104, no. 5, pp. 948-956 . https://doi.org/10.1016/j.ajhg.2019.03.005
    American journal of human genetics, 104(5), 948-956. Cell Press
  • 7 .
    De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
    저자
    by Yoko Ito; Keren J. Carss; Sofia T. Duarte; Taila Hartley; Boris Keren, et al. 
    소스
    Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
    Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
    instacron:RCAAP
    Ito, Y, Carss, K J, Duarte, S T, Hartley, T, Keren, B, Kurian, M A, Marey, I, Charles, P, Mendonca, C, Nava, C, Pfundt, R, Sanchis-Juan, A, van Bokhoven, H, van Essen, A, van Ravenswaaij-Arts, C, Koziell, A, Boycott, K M & Kernohan, K D & Dyack, S & Raymond, F L 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. ', American Journal of Human Genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001
    NIHR BioResource & Care4Rare Canada Consortium 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures ', American journal of human genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001
    American Journal of Human Genetics, 103, 1, pp. 144-153
    American journal of human genetics, 103(1), 144-153. Cell Press
    American Journal of Human Genetics, 103, 144-153
    American Journal of Human Genetics, 103(1), 144-153. Cell Press
    American Journal of Human Genetics
    American Journal of Human Genetics, 103(1), 144-153. CELL PRESS
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