Search Results - "Q

Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound by Chih-Ping Chen, Tung-Yao Chang, Fang-Yu Hung, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chen-Chi Lee, Wayseen Wang

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A de novo 10q11.23q22.1 deletion detected by whole genome mate-pair sequencing: a case report by Dalin Fu, Weisheng Lin, Fen Lu, Senjie Du, Min Zhu, Xiaoke Zhao, Jian Tang, Chuan Chen, Xiaoli Chui, Shanmei Tang, Kai Wang, Chuanchun Yang, Bei Han

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Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report by Ji Yoon Han, Hyun Joo Lee, Young-Mock Lee, Joonhong Park

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Molecular cytogenetic characterization of de novo concomitant proximal 21q deletion of 21q11.2q21.3 and distal Xp deletion of Xp22.33p22.2 due to an unbalanced X;21 translocation detected by amniocentesis by Chih-Ping Chen, Shin-Wen Chen, Chao-Yun Wu, Schu-Rern Chern, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chen-Chi Lee, Li-Feng Chen, Wayseen Wang

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Prenatal diagnosis of low-level mosaicism for a small supernumerary marker chromosome derived from chromosome 9q (9q13-q21.33) in a pregnancy with a favorable outcome, and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes by Chih-Ping Chen, Liang-Ming Lo, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Li-Feng Chen, Yun-Yi Chen, Wayseen Wang

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Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: Prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3 by Chih-Ping Chen, Yi-Hui Lin, Szu-Yuan Chou, Yi-Ning Su, Schu-Rern Chern, Yu-Ting Chen, Dai-Dyi Town, Wen-Lin Chen, Wayseen Wang

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A 16-year-old patient with 46,X,ider(X)(q28)i(X)(q10) chromosomal abnormalities diagnosed with premature ovarian insufficiency by Jong Chul Baek, Hyen Chul Jo, Seon Mi Lee, Ji Eun Park, In Ae Cho

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Seizures as the first manifestation of chromosome 2q24.2-q24.3 in a two and a half years old girl: A case report by Wen-cheng Dai, Xue-xia Liu, Hui-jun Li, Gui-ning Song, Yan-hui Li, Cheng-ling Zhang, Lin Zhang

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Ubisol-Q₁₀, a Nanomicellar and Water-Dispersible Formulation of Coenzyme-Q₁₀ as a Potential Treatment for Alzheimer's and Parkinson's Disease by Darcy Wear, Caleb Vegh, Jagdeep K. Sandhu, Marianna Sikorska, Jerome Cohen, Siyaram Pandey

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Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report by Giovanna Tritto, Ivana Ricca, Marco Turi, Andrea Gemma, Filippo Muratori, Gioacchino Scarano, Fortunato Lonardo

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De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature by Yingxiao Shen, Xiaoqin Xu, Jiansong Chen, Jingjing Wang, Guanping Dong, Ke Huang, Junfen Fu, Dingwen Wu, Wei Wu

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Prenatal diagnosis of a 1.651-Mb 19q13.42-q13.43 microdeletion in a fetus with micrognathia and bilateral pyelectasis on prenatal ultrasound by Chih-Ping Chen, Chin-Yuan Hsu, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Wayseen Wang

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An 8q24.11q24.13 Microdeletion Encompassing EXT1 in a Boy with Autistic Spectrum Disorder, Intellectual Disability, and Multiple Hereditary Exostoses by Min Jeong Kim, Yunjin Lee, Sang Ook Nam, Young Mi Kim

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Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism by Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang

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State-of-the-Art Research on C1q and the Classical Complement Pathway by Christine Gaboriaud

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C1q: A Molecular Bridge to Innate and Adaptive Immunity

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Chapter Q&A with Annamaria Pagliaro: From Italy to Australia and Back by Pagliaro, Annamaria

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Difficulties of Q Fever Diagnostic Verification at Negative PCR Testing Results by Ya. D. Yankovskaya, T. A. Chekanova, M. V. Kutateladze, K. Petremgvdlishvili, T. Ya. Chernobrovkina

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Practical possibilities in using q SOFA scale by Emergency Medical Teams by Dominika Piękoś, Aleksandra Stachowicz, Gabriela Sobczyk, Dorota Ozga

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Abordaje inmunológico del síndrome por deleción 22q11 by Estefanía Vásquez-Echeverri, Federico Sierra, Claudia M. Trujillo-Vargas, Julio C. Orrego-Arango, Carlos Garcés-Samudio, Rafael Lince, José L. Franco-Restrepo

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