Search Results - "phenotyping"

Molecular characterization of a carbon dioxide-dependent Escherichia coli small-colony variant isolated from blood cultures by Takehisa Matsumoto, Masayuki Hashimoto, Ching-Hao Teng, Po-Chuen Hsu, Yusuke Ota, Masaru Takamizawa, Ryosuke Kato, Tatsuya Negishi

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Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology by Kang Nien How, Kang Nien How, Hazel Jing Yi Leong, Zacharias Aloysius Dwi Pramono, Kin Fon Leong, Zee Wei Lai, Zee Wei Lai, Wei Hsum Yap, Wei Hsum Yap

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Disentangling the genetics of sarcopenia: prioritization of NUDT3 and KLF5 as genes for lean mass & HLA-DQB1-AS1 for hand grip strength with the associated enhancing SNPs & a scori... by Abhishek Narain Singh, Bili Gasman

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Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Jap... by Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada

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Impact of orthodontic-induced facial morphology changes on aesthetic evaluation: a retrospective study by Chao Liu, Siyuan Du, Zhengliang Wang, Shikai Guo, Mengjuan Cui, Qianglan Zhai, Manfei Zhang, Bing Fang

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An integrated multi-tissue approach for endometriosis candidate biomarkers: a systematic review by Axelle Brulport, Mathilde Bourdon, Daniel Vaiman, Christian Drouet, Khaled Pocate-Cheriet, Kheira Bouzid, Louis Marcellin, Pietro Santulli, Carole Abo, Maxime Jeljeli, Sandrine Chouzenoux, Charles Chapron, Frédéric Batteux, Camille Berthelot, Ludivine Doridot

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DNA methylation differences in monozygotic twins with Van der Woude syndrome by A. L. Petrin, E. Zeng, M. A. Thomas, D. Moretti-Ferreira, M. L. Marazita, X. J. Xie, J. C. Murray, L. M. Moreno-Uribe

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Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report by Jing Chen, Xiaomin Ma, Yulin Zhou, Guimei Li, Qiwei Guo

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Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene by Orsolya Nagy, Judit Kárteszi, Beatrix Elmont, Anikó Ujfalusi

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Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder by Juan Xiong, Juan Xiong, Zhonghua Liu, Shimeng Chen, Shimeng Chen, Miriam Kessi, Miriam Kessi, Baiyu Chen, Baiyu Chen, Haolin Duan, Haolin Duan, Xiaolu Deng, Xiaolu Deng, Lifen Yang, Lifen Yang, Jing Peng, Jing Peng, Fei Yin, Fei Yin

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The Identification of Novel CYP2D6 Variants in US Hmong: Results From Genome Sequencing and Clinical Genotyping by Ya Feng Wen, Andrea Gaedigk, Andrea Gaedigk, Erin C. Boone, Wendy Y. Wang, Robert J. Straka

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Transcriptional consequences of impaired immune cell responses induced by cystic fibrosis plasma characterized via dual RNA sequencing by Justin E. Ideozu, Vittobai Rangaraj, Hiam Abdala-Valencia, Xi Zhang, Manoj Kandpal, Marc A. Sala, Ramana V. Davuluri, Hara Levy

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Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features? by Xiaojin Luo, Hongyan Niu, Fei Zhou, Xiaohang Chen, Yuanyuan Pei, Weiqiang Liu, Fengxiang Wei

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Ductular reaction in alcoholic steatohepatitis, nonalcoholic steatohepatitis and hepatitis C virus infection (immunohistochemical study) by O. M. Gavrilyuk

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Chapter Functional Annotation of Rare Genetic Variants by Ritchie, Graham

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Pragmatic Markers in the Management of Asthma: A Real-World-Based Approach by Giorgio Ciprandi, Gian Luigi Marseglia, Fabio Luigi Massimo Ricciardolo, Maria Angela Tosca

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CYTOGENETIC STUDY OF TURNER SYNDROME IN IRAN by S.Y. Seyedna, R. Zakikhani

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Senescence and fibrosis in salivary gland aging and disease by Deirdre A. Nelson, Isabella Kazanjian, J. Andres Melendez, Melinda Larsen

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Emerging Therapies for Childhood Polycystic Kidney Disease by William E. Sweeney, Ellis D. Avner

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Single Center Experience With Pediatric Patients With GATA2 Deficiency by Galina Ovsyannikova, Anna Pavlova, Ekaterina Deordieva, Elena Raykina, Alexey Pshonkin, Alexey Maschan, Michael Maschan

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