Search Results - "phenotyping"

Thymic stromal alterations and genetic disorders of immune system by Claudio Pignata

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A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China by Jia A, Lei Y, Liu DP, Pan L, Guan HZ, Yang B

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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome by Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, Rosanna Weksberg

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Variable expressivity of <it>FGF3 </it>mutations associated with deafness and LAMM syndrome by Griffith Andrew J, Butman John A, Riazuddin Sheikh, Shaukat Uzma, Nasir Idrees, Khan Shaheen N, Hegde Rashmi S, Ahmed Zubair M, Riazuddin Saima, Friedman Thomas B, Choi Byung

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Prevalence of glucose-6-phosphate dehydrogenase deficiency (G6PDd), CareStart qualitative rapid diagnostic test performance, and genetic variants in two malaria-endemic areas in Su... by Musab M Ali Albsheer, Andrew A Lover, Sara B Eltom, Leena Omereltinai, Nouh Mohamed, Mohamed S Muneer, Abdelrahim O Mohamad, Muzamil Mahdi Abdel Hamid

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Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract by Geisilaine Soares dos Reis, Ana Cristina Simões e Silva, Izabella Silva Freitas, Thiago Ramos Heilbuth, Luiz Armando de Marco, Eduardo Araújo Oliveira, Débora Marques Miranda

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Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing by Anett Illés, Henriett Pikó, Kristóf Árvai, Veronika Donka, Olívia Szepesi, János Kósa, Péter Lakatos, Artúr Beke

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Effects of Monitoring Frailty Through a Mobile/Web-Based Application and a Sensor Kit to Prevent Functional Decline in Frail and Prefrail Older Adults: FACET (Frailty Care and Well... by Myriam Valdés-Aragonés, Rodrigo Pérez-Rodríguez, José Antonio Carnicero, Pedro A Moreno-Sánchez, Myriam Oviedo-Briones, Elena Villalba-Mora, Pedro Abizanda-Soler, Leocadio Rodríguez-Mañas

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Differential induction of inflammatory cytokines by dendritic cells treated with novel TLR-agonist and cytokine based cocktails: targeting dendritic cells in autoimmunity by Gad Monika, Jensen Simon S

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Stillbirth and fetal growth restriction by V. G. Volkov, M. V. Kastor

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Obacunone Alleviates Inflammatory Pain by Promoting M2 Microglial Polarization and by Activating Nrf2/HO-1 Signaling Pathway by Nan F, Tian Q, Chen S

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Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis by Elisabeth De Smit, Samuel W. Lukowski, Lisa Anderson, Anne Senabouth, Kaisar Dauyey, Sharon Song, Bruce Wyse, Lawrie Wheeler, Christine Y. Chen, Khoa Cao, Amy Wong Ten Yuen, Neil Shuey, Linda Clarke, Isabel Lopez Sanchez, Sandy S. C. Hung, Alice Pébay, David A. Mackey, Matthew A. Brown, Alex W. Hewitt, Joseph E. Powell

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A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report by Anna Zlotina, Olesia Melnik, Yulia Fomicheva, Rostislav Skitchenko, Alexey Sergushichev, Elena Shagimardanova, Oleg Gusev, Guzel Gazizova, Tatiana Loevets, Tatiana Vershinina, Ivan Kozyrev, Mikhail Gordeev, Elena Vasichkina, Tatiana Pervunina, Anna Kostareva

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A Human Conditionally Immortalized Proximal Tubule Epithelial Cell Line as a Novel Model for Studying Senescence and Response to Senolytics by Yi Yang, Milos Mihajlovic, Floris Valentijn, Tri Q. Nguyen, Roel Goldschmeding, Rosalinde Masereeuw

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Appendicular lean mass index changes in patients with Duchenne muscular dystrophy and Becker muscular dystrophy by Brenda L. Wong, Suzanne Summer, Paul S. Horn, Meilan M. Rutter, Irina Rybalsky, Cuixia Tian, Karen C. Shellenbarger, Heidi J. Kalkwarf

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Landscape management and domestication of <it>Stenocereus pruinosus</it> (Cactaceae) in the Tehuacán Valley: human guided selection and gene flow by Parra Fabiola, Blancas José, Casas Alejandro

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The association between dynamic changes in vitamin D and frailty alterations: A prospective analysis of UK Biobank participants by Pan Zhang, Jinghui Zhong, Xinfeng Liu, Wen Sun

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Natural Killer Cells in Tissue Compartments

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Obstructive Sleep Apnea in Pediatrics and Adolescent Women: A Systematic Review of Sex-Based Differences Between Girls and Boys by Sofía Romero-Peralta, Cristina Rubio, María Castillo-García, Pilar Resano, Miguel Alonso, Esther Solano-Pérez, Laura Silgado, Esther Viejo-Ayuso, Leticia Álvarez-Balado, Olga Mediano

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Mild Crigler-Najjar Syndrome with Progressive Liver Disease-A Multicenter Retrospective Cohort Study by Norman Junge, Hanna Hentschel, Dorothee Krebs-Schmitt, Amelie Stalke, Eva-Doreen Pfister, Björn Hartleben, Martin Claßen, Alexander Querfurt, Veronika Münch, Philip Bufler, Jun Oh, Enke Grabhorn

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