Search Results - "phenotyping"

Phenotypic screen of early-developing larvae of the blood fluke, schistosoma mansoni, using RNA interference. by M M Mourão, Nathalie Dinguirard, Glória R Franco, Timothy P Yoshino

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Clinical Phenotype and Outcomes of Indo-Asian Patients with ANCA-Associated Glomerulonephritis in the North West, UK by Lauren Floyd, Joshua Storrar, Sanjeev Pramanik, Adam D. Morris, Smeeta Sinha, Silke R. Brix, Philip A. Kalra, Ajay P. Dhaygude

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Genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists by Aditya Ekawade, Matt Velinder, Alistair Ward, Tonya DiSera, Chase Miller, Yi Qiao, Gabor Marth

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Development of monoorganic and polyorganic phenotypes of bronchial asthma in children: the role of combined single-nucleotide variants by V.O. Dytiatkovskyi, O.L. Krivusha, N.M. Tokareva

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Validation of DE50-MD dogs as a model for the brain phenotype of Duchenne muscular dystrophy by Abbe H. Crawford, John C. W. Hildyard, Sophie A. M. Rushing, Dominic J. Wells, Maria Diez-Leon, Richard J. Piercy

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Multi-Phenotypic Breast Cancer Post-Radiotherapy for Hodgkin Lymphoma: A Case of Secondary Malignancy by Donnell White PhD, Maryam Sadough Shahmirzadi MD, Brian Boulmay MD

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Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene by Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Márta Széll, Nikoletta Nagy

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Lean body mass and the cardiorespiratory phenotype: An ethnic‐specific relationship in Hans Chinese women and men by Meihan Guo, Candela Diaz‐Canestro, Nicola Riccardo Pugliese, Francesco Paneni, David Montero

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A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice by Zakia Abdelhamed, Marshall Lukacs, Sandra Cindric, Heymut Omran, Rolf W. Stottmann

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Relation between CYP2C19 phenotype and genotype in a group of Brazilian volunteers by Rafael Linden, Ana Luiza Ziulkoski, Paula Tonello, Maína Wingert, André Arigony Souto

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Metabolically healthy and unhealthy obesity phenotypes in the general population: the FIN-D2D Survey by Saltevo Juha T, Saaristo Timo, Niskanen Leo, Oksa Heikki, Keinänen-Kiukaanniemi Sirkka, Korpi-Hyövälti Eeva, Kotronen Anna, Pajunen Pia, Sundvall Jouko, Vanhala Mauno, Uusitupa Matti, Peltonen Markku

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Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29 by Ethan Hung-Hsi Wang, Pei-Hsuan Lin, Pei-Liang Wu, Eugene Yu-Chuan Kang, Laura Liu, Lung-Kun Yeh, Kuan-Jen Chen, Meng-Chang Hsiao, Nan-Kai Wang

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A case of netherton syndrome with novel mutation in SPINK5 gene expressing incomplete phenotype by Tejas D Patel, Jigna Krunal Padhiyar, Nayan H Patel, Nishi S Trivedi

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Resilient phenotypes among bereaved youth: a comparison of trajectory, relative, and cross-domain approaches by Ana Lucia Espinosa Dice, Xian Ye, Stephanie Gyuri Kim, Katie A. McLaughlin, Ananda B. Amstadter, Henning Tiemeier, Christy A. Denckla

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Evaluation of claims‐based computable phenotypes to identify heart failure patients with preserved ejection fraction by Sarah S. Cohen, Véronique L. Roger, Susan A. Weston, Ruoxiang Jiang, Naimisha Movva, Akeem A. Yusuf, Alanna M. Chamberlain

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Granulomatous Liver Disease in Ataxia-Telangiectasia With the Hyper-IgM Phenotype: A Case Report by Aleksandra Szczawińska-Popłonyk, Lidia Ossowska, Katarzyna Jończyk-Potoczna

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Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation by Mariem Ennouri, Andreas D. Zimmer, Emna Bahloul, Rim Chaabouni, Slaheddine Marrakchi, Hamida Turki, Faiza Fakhfakh, Noura Bougacha-Elleuch, Judith Fischer

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Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort by Maria Sol Touzon, Natalia Perez Garrido, Roxana Marino, Pablo Ramirez, Mariana Costanzo, Gabriela Guercio, Esperanza Berensztein, Marco A. Rivarola, Alicia Belgorosky

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Frequency of the Phenotypes of Polycystic Ovarian Syndrome in Iranian Adolescents (Mashhad) based on Rotterdam Criteria in 2018 by Seyede Azam Pourhoseini, Raheleh Babazadeh, Zahra Abedian, Seyed Reza Mazloum

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Genetic background modifies vulnerability to glaucoma-related phenotypes in Lmx1b mutant mice by Nicholas G. Tolman, Revathi Balasubramanian, Danilo G. Macalinao, Alison L. Kearney, Katharine H. MacNicoll, Christa L. Montgomery, Wilhelmine N. de Vries, Ian J. Jackson, Sally H. Cross, Krishnakumar Kizhatil, K. Saidas Nair, Simon W. M. John

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