Search Results - "phenotyping"

Comparison of variants in TPMT and NUDT15 between sequencing and genotyping methods in a multistate pediatric institution by Kelsey J. Cook, Victoria Grusauskas, Lucy Gloe, Benjamin Q. Duong, Renee C. Gresh, E. Anders Kolb, Manisha Bansal, Allison S. Bechtel, Ramamoorthy Nagasubramanian, Susan M. Kirwin, Kathryn V. Blake, Nathan D. Seligson

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Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort by Kübra Öztürk, Taner Coşkuner, Esra Baglan, Hafize Emine Sönmez, Gülçin Otar Yener, Figen Çakmak, Fatma Gül Demirkan, Ayşe Tanatar, Serife Gül Karadag, Semanur Ozdel, Ferhat Demir, Mustafa Çakan, Nuray Aktay Ayaz, Betül Sözeri

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Quantile-Specific Heritability of Inflammatory and Oxidative Stress Biomarkers Linked to Cardiovascular Disease by Williams PT

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Microglial Polarization in the Pathogenesis and Therapeutics of Neurodegenerative Diseases by Isidre Ferrer

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Implementation of individualised polygenic risk score analysis: a test case of a family of four by Manuel Corpas, Karyn Megy, Antonio Metastasio, Edmund Lehmann

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Pediatric Sleep Respiratory Disorders: A Narrative Review of Epidemiology and Risk Factors by Marta Piotto, Antonella Gambadauro, Alessia Rocchi, Mara Lelii, Barbara Madini, Lucia Cerrato, Federica Chironi, Youssra Belhaj, Maria Francesca Patria

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Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins by Cristina Olivieri, Anna Mondino, Matteo Chinello, Alessandra Risso, Enrico Finale, Marina Lanciotti, Andrea Guala

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The Genetics of Odontogenesis: Implications in Dental Anthropology and Palæo-Odontology by Geoffrey H. Sperber

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Activation of Macrophages by Oligomeric Proteins of Different Size and Origin by Indrė Dalgėdienė, Asta Lučiūnaitė, Aurelija Žvirblienė

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Atherosclerotic Plaque Stability Is Affected by the Chemokine CXCL10 in Both Mice and Humans by Dolf Segers, Jonathan A. Lipton, Pieter J. M. Leenen, Caroline Cheng, Dennie Tempel, Gerard Pasterkamp, Frans L. Moll, Rini de Crom, Rob Krams

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Hepatic Myofibroblasts: A Heterogeneous and Redox-Modulated Cell Population in Liver Fibrogenesis by Claudia Bocca, Francesca Protopapa, Beatrice Foglia, Marina Maggiora, Stefania Cannito, Maurizio Parola, Erica Novo

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Concomitant occurrence of Turner syndrome and growth hormone deficiency by Jung Yu, Ha Young Shin, Chong Guk Lee, Jae Hyun Kim

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A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature by Guibin Bai, Rougang Yuan, Jian Yuan, Yanqin Liu, Shaozhi Zhao, Xinwen Zhang

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A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome by Nazlı Durmaz Çelik, Ebru Erzurumluoğlu, Serkan Özben, Uğur Toprak, Göknur Yorulmaz, Sevilhan Artan, Serhat Özkan

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Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management by Kelly A. Duffy, Kelly L. Trout, Jennifer M. Gunckle, Shari McCullen Krantz, John Morris, Jennifer M. Kalish, Jennifer M. Kalish

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Neonatal osteosclerotic bone dysplasia (Raine syndrome) by Tarun Kumar Girigiri, Tejaswi Reddy, Alimelu Madireddy, Swapna Lingaldinna

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Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report by Martina Siracusano, Claudia Marcovecchio, Assia Riccioni, Caterina Dante, Luigi Mazzone

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Thickness of keratinized tissue as an indicator of success in connective tissue operations by Necla Asli Kocak Oztug

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Diabetic retinopathy: variations in patient therapeutic outcomes and pharmacogenomics by Agarwal A, Soliman MK, Sepah YJ, Do DV, Nguyen QD

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Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the <it>EVC </it>gene by Cockerham John, Sapp Julie C, Gül Davut, Ulucan Hakan, Johnston Jennifer J, Biesecker Leslie G

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