Search Results - "mutation"

Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options by Gabriel Ángel Martos-Moreno, Joan Calzada, María L. Couce, Jesús Argente

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m6A Regulator-Mediated Methylation Modification Patterns and Characterisation of Tumour Microenvironment Infiltration in Non-Small Cell Lung Cancer by Fan Y, Zhou Y, Lou M, Li X, Zhu X, Yuan K

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A Gender-Dependent Molecular Switch of Inflammation via MyD88/Estrogen Receptor-Alpha Interaction by El Sabeh R, Bonnet M, Le Corf K, Lang K, Kfoury A, Badran B, Hussein N, Virard F, Treilleux I, Le Romancer M, Lebecque S, Manie S, Coste I, Renno T

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Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a nov... by Reichert Jennifer G, Nakamine Alisa, Cohen Ninette, Goldsmith Juliet E, Edelmann Lisa, Cai Guiqing, Hoffman Ellen J, Zurawiecki Danielle M, Silverman Jeremy M, Hollander Eric, Soorya Latha, Anagnostou Evdokia, Betancur Catalina, Buxbaum Joseph D

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Early Vascular Aging in Children With Tuberous Sclerosis Complex by Piotr Skrzypczyk, Anna Maria Wabik, Michał Szyszka, Sergiusz Józwiak, Przemysław Bombiński, Aleksandra Jakimów-Kostrzewa, Michał Brzewski, Małgorzata Pańczyk-Tomaszewska

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PARTICIPACIÓN POLÍTICA Y FORMACIÓN DOCENTE: EFECTOS EDIFICANTES DE LA DECONSTRUCCIÓN PARA LA DEMOCRATIZACIÓN DE LAS INSTITUCIONES by Adriana Marcela Barrionuevo

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Management, morphological and genetic diversity of domesticated agaves in Michoacán, México by Gonzalo D. Álvarez-Ríos, Fernando Pacheco-Torres, Carmen Julia Figueredo-Urbina, Alejandro Casas

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Clinical and genetic characteristics of 36 children with Joubert syndrome by Yan Dong, Yan Dong, Ke Zhang, Ke Zhang, He Yao, He Yao, Tianming Jia, Jun Wang, Dengna Zhu, Falin Xu, Meiying Cheng, Shichao Zhao, Xiaoyi Shi

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Posterior Fossa Tumors Special Edition. Celebrating 4 years! by Ricardo Santos de Oliveira, Matheus Ballestero

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Exogenous H2S promotes ubiquitin‐mediated degradation of SREBP1 to alleviate diabetic cardiomyopathy via SYVN1 S‐sulfhydration by Shiwu Zhang, Mengyi Wang, Hongxia Li, Qianzhu Li, Ning Liu, Shiyun Dong, Yajun Zhao, Kemiao Pang, Jiayi Huang, Cheng Ren, Yan Wang, Zhen Tian, Fanghao Lu, Weihua Zhang

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Impacto prognóstico da expressão imuno-histoquímica do BRCA1 nos carcinomas mamários esporádicos Prognostic impact of BRCA1 immunohistochemistry expression in sporadic breast... by Alfredo Ribeiro-Silva, Sérgio Britto Garcia, Fernando Chahud, Sérgio Zucoloto

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Molecular epidemiology and phylogenetic analysis of influenza viruses A (H3N2) and B/Victoria during the COVID-19 pandemic in Guangdong, China by Zhiqi Zeng, Yong Liu, Wenxiang Jin, Jingyi Liang, Jinbin Chen, Ruihan Chen, Qianying Li, Wenda Guan, Lixi Liang, Qiubao Wu, Yuanfang Lai, Xiaoyan Deng, Zhengshi Lin, Chitin Hon, Zifeng Yang

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Hipofosfatasia: manifestaciones clínicas, recomendaciones diagnósticas y opciones terapéuticas by Gabriel A. Martos-Moreno, Joan Calzada, María L. Couce, Jesús Argente

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KECEMASAN PADA MASYARAKAT TERHADAP BERITA PENINGKATAN KASUS COVID-19 VARIAN OMICRON by Lilis Sri Wulandari, -

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Études d'histoire de la profession d'avocat Défendre par la parole et par l'écrit by Gazzaniga, Jean-Louis

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Status of dhps and dhfr genes of Plasmodium falciparum in Colombia before artemisinin based treatment policy Estado de los genes dhps y dhfr de Plasmodium falciparum en Colombia an... by Andrés Villa, Jaime Carmona-Fonseca, Agustín Benito, Alonso Martínez, Amanda Maestre

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Hygienic assessment of effects of the novel coronavirus on the physical, social, and mental health of individuals from Egypt, United Arab Emirates and other countries from 2020 to... by Tishya Mukherjee, Hamsa Ali Elsayed, Yomna Mousa A. B, Olena Vavrinevych, Andrii Borysenko

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Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review by Abdoul Karim Ouattara, Pouiré Yameogo, Lassina Traore, Birama Diarra, Maléki Assih, Tegwindé Rébéca Compaore, Dorcas Obiri-yeboah, Serge Théophile Soubeiga, Florencia Wendkuuni Djigma, Jacques Simpore

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Expressão imuno-histoquímica de p53 na discriminação do comportamento biológico dos tumores de glândulas salivares Immunohistochemical expression of p53 on the biological beh... by Kelen Christine do Nascimento Souza, Paulo Rogério de Faria, Sérgio Vitorino Cardoso, Luciano Lauria Dib, Ignez Candelori, Adriano Mota Loyola

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Molecular interactions of PCSK9 with an inhibitory nanobody, CAP1 and HLA-C: Functional regulation of LDLR levels by Carole Fruchart Gaillard, Ali Ben Djoudi Ouadda, Lidia Ciccone, Emmanuelle Girard, Sepideh Mikaeeli, Alexandra Evagelidis, Maïlys Le Dévéhat, Delia Susan-Resiga, Evelyne Cassar Lajeunesse, Hervé Nozach, Oscar Henrique Pereira Ramos, Aurélien Thureau, Pierre Legrand, Annik Prat, Vincent Dive, Nabil G. Seidah

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