Search Results - "phenotyping"

Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom by Shani Karklinsky, Shir Kugler, Omer Bar-Yosef, Andreea Nissenkorn, Anat Grossman-Jonish, Irit Tirosh, Asaf Vivante, Ben Pode-Shakked

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Phenotypic and Genotypic Investigation of Carbapenem-Resistant <i>Acinetobacter baumannii</i> in Maharaj Nakhon Si Thammarat Hospital, Thailand by Sirijan Santajit, Phuangthip Bhoopong, Thida Kong-Ngoen, Witawat Tunyong, Dararat Horpet, Wanfudhla Paehoh-ele, Tasneem Zahedeng, Pornpan Pumirat, Nitat Sookrung, Woranich Hinthong, Nitaya Indrawattana

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A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report by Rentao Yu, Yanzhi Guo, Yunjie Dan, Wenting Tan, Qing Mao, Guohong Deng

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Twelve-month effects of everolimus on renal and lung function in lung transplantation: differences in chronic lung allograft dysfunction phenotypes by Filippo Patrucco, Elias Allara, Massimo Boffini, Mauro Rinaldi, Cristina Costa, Carlo Albera, Paolo Solidoro

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Effect of Native American ancestry on iron-related phenotypes of Alabama hemochromatosis probands with <it>HFE </it>C282Y homozygosity by Barton Ellen H, Barton James C, Acton Ronald T

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Exploring the Effect of the Dynamics of Behavioral Phenotypes on Health Outcomes in an mHealth Intervention for Childhood Obesity: Longitudinal Observational Study by Sarah Woo, Sunho Jung, Hyunjung Lim, YoonMyung Kim, Kyung Hee Park

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Folliculitis Decalvans With Frontal Fibrosing Alopecia in a Dark Phototype: Presentation of Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum by Basma Karrakchou, Amani Fliti, Amal El Fiboumi, Fouad Kettani, Karima Senouci, Mariame Meziane

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Hypertriglyceridemia and hypertension-altered abdominal girdle phenotypes and their association with cardiovascular risk factors in women seen at the Provincial Climacteric Consultation by Elodia María Rivas Álpizar, Karen Lizeth García, Annia Quintana Marrero

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In depth analysis of the association of FTO SNP (rs9939609) with the expression of classical phenotype of PCOS: a Sri Lankan study by Umayal Branavan, Sulochana Wijesundera, Vishvanath Chandrasekaran, Carukshi Arambepola, Chandrika Wijeyaratne

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Association between metabolic phenotypes and incident pre-sarcopenia: 3 years follow-up of Tehran Lipid and Glucose Study by Behnaz Abiri, Amirhossein Ramezani Ahmadi, Ali Valizadeh, Zahra Seifi, Farhad Hosseinpanah, Fereidoun Azizi, Majid Valizadeh

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Multi-drug Resistant Acinetobacter baumannii: Phenotypic and Genotypic Resistance Profiles and the Associated Risk Factors in Teaching Hospital in Jordan by Mohammad H. Gharaibeh, Yaman M. Abandeh, Ziad A. Elnasser, Shawkat Q. Lafi, Haneen M. Obeidat, Malak A. Khanfar

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A novel mutation in two Spanish children with Niemann Pick disease: description of genotype, sphingomyelinase activity, phenotype and review by Pablo del Villar-Guerra, Celia Reig, Pilar Irún, Blanca Moreno, Pilar Giraldo, Jorge J. Cebolla

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Metformin suppresses epithelial sodium channel hyperactivation and its associated phenotypes in a mouse model of obstructive lung diseases by Ryunosuke Nakashima, Hirofumi Nohara, Noriki Takahashi, Aoi Nasu, Megumi Hayashi, Tomoki Kishimoto, Shunsuke Kamei, Haruka Fujikawa, Kasumi Maruta, Taisei Kawakami, Yuka Eto, Keiko Ueno-Shuto, Mary Ann Suico, Hirofumi Kai, Tsuyoshi Shuto

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Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant by Nidhi Gupta, Seth W. Gregory, David R. Deyle, Peter J. Tebben

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Adiposity Phenotypes and Subclinical Atherosclerosis in Adults from Sub-Saharan Africa: An H3Africa AWI-Gen Study by Engelbert A. Nonterah, Michiel L. Bots, Abraham Oduro, Godfred Agongo, Cassandra C. Soo, Lisa K. Micklesfield, Felistas Mashinya, Palwendè R. Boua, Shukri F. Mohamed, Alisha N. Wade, Catherine Kyobutungi, Halidou Tinto, Shane A. Norris, Stephen M. Tollman, Michèle Ramsay, Diederick E. Grobbee, Kerstin Klipstein-Grobusch, Nigel J. Crowther, on behalf of the AWI-Gen and the H3Africa Consortium

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Interplay between Non-Coding RNA Transcription, Stringent/Relaxed Phenotype and Antibiotic Production in <i>Streptomyces ambofaciens</i> by Eva Pinatel, Matteo Calcagnile, Adelfia Talà, Fabrizio Damiano, Luisa Siculella, Clelia Peano, Giuseppe Egidio De Benedetto, Antonio Pennetta, Gianluca De Bellis, Pietro Alifano

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Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review by Dan-Dan Wang, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Ping Xu, Ji-Hong Wu

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A case of Gorlin syndrome like phenotype with multiple infundibulocystic basal cell carcinomas in a moniliform blepharosis arrangement by David Petrosian, DO, Paloma Reiter, DO, Suzanne Sirota Rozenberg, DO, Sergey Petrosian, DO

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Invasive non-typhoidal Salmonella typhimurium ST313 are not host-restricted and have an invasive phenotype in experimentally infected chickens. by Bryony N Parsons, Suzanne Humphrey, Anne Marie Salisbury, Julia Mikoleit, Jay C D Hinton, Melita A Gordon, Paul Wigley

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Guillain-Barré syndrome related to Zika virus infection: A systematic review and meta-analysis of the clinical and electrophysiological phenotype. by Sonja E Leonhard, Cristiane C Bresani-Salvi, Joanna D Lyra Batista, Sergio Cunha, Bart C Jacobs, Maria Lucia Brito Ferreira, Maria de Fatima P Militão de Albuquerque

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