Search Results - "Normal family

Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey by Rabia Miray Kışla Ekinci, Fatih Gürbüz, Sibel Balcı, Atıl Bişgin, Mehmet Taştan, Bilgin Yüksel, Mustafa Yılmaz

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Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3) by Cao Henian, Wang Jian, Casey Robin, Li Gang, Francis Gordon A, Leff Todd, Hegele Robert A

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Comprehensive bioinformatic analysis of the expression and prognostic significance of TSC22D domain family genes in adult acute myeloid leukemia by XiaoQiang Xu, Rui Sun, YuanZhang Li, JiaXi Wang, Meng Zhang, Xia Xiong, DanNi Xie, Xin Jin, MingFeng Zhao

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Influences of peers’ and family members’ body shapes on perception of body image and desire for thinness in Japanese female students by Mase T, Ohara K, Miyawaki C, Kouda K, Nakamura H

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A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing by Lusi Zhang, Yingqian Peng, Pingbo Ouyang, Youling Liang, Huilan Zeng, Nuo Wang, Xuanchu Duan, Jingming Shi

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Neurodevelopmental Outcome and Neuroimaging of Very Low Birth Weight Infants from an Italian NICU Adopting the Family-Centered Care Model by Licia Lugli, Marisa Pugliese, Natascia Bertoncelli, Luca Bedetti, Cristina Agnini, Isotta Guidotti, Maria Federica Roversi, Elisa Muttini Della Casa, Francesca Cavalleri, Alessandra Todeschini, Antonella Di Caprio, Tommaso Zini, Lucia Corso, Francesca Miselli, Fabrizio Ferrari, Alberto Berardi

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Increased <i>MAGE-C</i> Family Gene Expression Levels as a Biomarker of Colon Cancer Through the Demethylation Mechanism by Mikhlid H. Almutairi, Waad A. Alsoraie, Turki M. Alrubie, Ahmad S. Alkhaldi, Nada S. Alhajri, Monira A. Alaujan, Manar H. Almutairi, Bader O. Almutairi

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<b>Family experience and adaptation to stroke and role of an assistance project</b> - 10.4025/actascihealthsci.v34ispec.10425 by Simone Roecker, Tatiane Baratieri, Patrícia Bossolani Charlo Sanches, Fernanda Ribeiro Baptista Marques, Élen Ferraz Teston, Sonia Silva Marcon

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Ameliorative Effect of Galium Verum (Rubiaceae Family) Methanolic Extract on Folic Acid-induced Acute kidney Injury in Male Rats. by Aya Rashed, Ayman Saber Mohamed, Amel Soliman

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Assessing fetal growth impairments based on family data as a tool for identifying high-risk babies. An example with neonatal mortality by Olsen Jørn, Vestergaard Mogens, Sun Yuelian, Pedersen Carsten B, Basso Olga

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Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report by Xiong Wang, Lu Tan, Na Shen, Yanjun Lu, Ying Zhang

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Previously described sequence variant in <it>CDK5RAP2 </it>gene in a Pakistani family with autosomal recessive primary microcephaly by Hassan Muhammad, Khurshid Maryam, Azeem Zahid, John Peter, Ali Ghazanfar, Chishti Muhammad, Ahmad Wasim

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Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family by Di Zhang, Yi Qu, Xue-Qi Dong, Yi-Ting Lu, Kun-Qi Yang, Xin-Chang Liu, Peng Fan, Yu-Xiao Hu, Chun-Xue Yang, Ling-Gen Gao, Ya-Xin Liu, Xian-Liang Zhou

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A De Novo Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome by Linda R. Wang MD, Aleksandar Radonjic BSc, Allison A. Dilliott BSc, Adam D. McIntyre BSc, Robert A. Hegele MD, FRCPC, FACP

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Screening mutations of <it>OTOF </it>gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy by Benedict-Alderfer Cindy, Shen Yan, Yang Huan-Ming, Li Jian-Qiang, Liu Qiong, Ji Yu-Bin, Zong Liang, Rao Shao-Qi, Zhao Ya-Li, Weil Dominique, Wang Yi-Chen, Wang Da-Yong, Zheng Qing-Yin, Petit Christine, Wang Qiu-Ju

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A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report by Y. Watanabe, E. Sharwood, B. Goodwin, M. K. Creech, H. Y. Hassan, M. G. Netea, M. Jaeger, A. Dumitrescu, S. Refetoff, T. Huynh, R. E. Weiss

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Sexual and reproductive health of CDC plantation camp residents: a focus on unmet need for family planning among women in union by Agbor Nathan Emeh, Ngouakam Hermann, Elvis Asangbeng Tanue, Nsagha Shey Dickson

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A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report by Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao, Yuan Gao

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Building the capacity of family day care educators to promote children's social and emotional wellbeing: an exploratory cluster randomised controlled trial by Sims Margaret, Herrman Helen, Waters Elizabeth, Cook Kay, Mackinnon Andrew, Williamson Lara, Davis Elise, Mihalopoulos Cathrine, Harrison Linda, Marshall Bernard

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Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report by G. Fabbriciani, A. Colombini, C. Messina, G. Adami

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