Search Results - "mutation"

Novel frameshift mutations in XPC gene underlie xeroderma pigmentosum in Pakistani families by Ambreen Ijaz, Khadim Shah, Abdul Aziz, Fazal U Rehman, Yasir Ali, Abdul M Tareen, Kafaitullah Khan, Muhammad Ayub, Abdul Wali

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A Sporadic Family of Lipoid Proteinosis with Novel ECM1 Gene Mutations by Liu YL, Zhang ZYO, Chen XM

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A Peptide Vaccine Design Targeting KIT Mutations in Acute Myeloid Leukemia by Minji Kim, Kush Savsani, Sivanesan Dakshanamurthy

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Identification of Novel Mutations in Arabidopsis thaliana DOF 4.2 Coding Gene by Omid Jamshidi Kandjani, Mahdieh Rahbar-Shahrouziasl, Ali Akbar Alizadeh, Maryam Hamzeh-Mivehroud, Siavoush Dastmalchi

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A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene by Se Eun Lee, Yun Hye Jung, Kyoung Hee Han, Hyun Kyung Lee, Hee Gyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong

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X-Linked Lissencephaly with ARX Mutations, Abnormal Genitalia, and Corpus Callosum Agenesis by J Gordon Millichap

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Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients by Sara Missaglia, Valentina Pegoraro, Roberta Marozzo, Daniela Tavian, Corrado Angelini

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Phenotypic diversity in clinical and manometric characteristics of pediatric patients with ACTG2 mutations by Sindhu Pandurangi, Khalil El-Chammas, Samuel A. Kocoshis, Ajay Kaul

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Mutation analysis of the KRT9 gene in a family with epidermolytic palmoplantar keratoderma by Yongfeng YAO, Zhijie LUO, Zeqiao ZHANG, Fang YANG

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Optimization of deep learning models for the prediction of gene mutations using unsupervised clustering by Zihan Chen, Xingyu Li, Miaomiao Yang, Hong Zhang, Xu Steven Xu

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<it>EDAR </it>mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families by Schmitt-Egenolf Marcus, Lejon Kristina, Stecksén-Blicks Christina, Lind Lisbet K

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High-throughput screening reveals novel mutations in spinal muscular atrophy patients by Ruiping Zhang, Chunyu Gu, Linjie Pu, Yingtao Meng, Jianbo Shu, Chunquan Cai

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Identical mitochondrial somatic mutations unique to chronic periodontitis and coronary artery disease by Tokala Pallavi, Rampalli Viswa Chandra, Aileni Amarender Reddy, Bavigadda Harish Reddy, Anumala Naveen

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Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients by Xu Mengmeng, Xu Yuejuan, Chen Sun, Lu Yanan, Li Fen, Sun Kun

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1865 The identification of de-novo pathogenic genetic mutations in adolescent patients with ADHD by Khalid Fakhro, Anood Alassaf, Madeeha Kamal, Sheema Hashem, Muhammad Haris

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Eight previously unidentified mutations found in the <it>OA1 </it>ocular albinism gene by Dufier Jean-Louis, Kaplan Josseline, Mezer Eedy, Said Edith, Lacombe Didier, Sutherland Joanne, Levin Alex V, Héon Elise, Bonneau Dominique, Munier Francis L, Schorderet Daniel F, Dollfus Hélène, Marchant Dominique, Jaliffa Carolina, Vêtu Christelle, Roche Olivier, Mayeur Hélène, Marsac Cécile, Menasche Maurice, Abitbol Marc

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Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease by Xiaoli Li, Dingwei Zhang, Jiahui Ding, Li Li, Zhenghui Wang

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Novel Mutation of Upshaw-Schulman Syndrome Associated with Coarctation of Aorta in Palestinian Child by Mahdi Zaid, Sultan Musleh, Tahani Sarrawi, Maysa Alawneh, Reem Sawafta, Honood AbuRas

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Rare TACI Mutation in a 3-Year-Old Boy With CVID Phenotype by Lucia Leonardi, Giulia Lorenzetti, Rita Carsetti, Simona Ferrari, Alessia Di Felice, Bianca Cinicola, Marzia Duse

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Evidence for both sequential mutations and recombination in the evolution of kdr alleles in Aedes aegypti. by Yinjun Fan, Patrick O'Grady, Melissa Yoshimizu, Alongkot Ponlawat, Phillip E Kaufman, Jeffrey G Scott

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