Search Results - "Medical genetics

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais by Wanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelersuk

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The current trend of genomics research for human diseases by Zhang Ke K, Arabnia Hamid R, Wang Yunliang, Deng Youping

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"A rising tide lifts all boats": establishing a multidisciplinary genomic tumor board for breast cancer patients with advanced disease by Michelle L. McGowan, Roselle S. Ponsaran, Paula Silverman, Lyndsay N. Harris, Patricia A. Marshall

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GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation by Roozbeh Manshaei, Sean DeLong, Veronica Andric, Esha Joshi, John B. A. Okello, Priya Dhir, Cherith Somerville, Kirsten M. Farncombe, Kelsey Kalbfleisch, Rebekah K. Jobling, Stephen W. Scherer, Raymond H. Kim, S. Mohsen Hosseini

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Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness by Sima Rayat, Mohammad Farhadi, Hessamaldin Emamdjomeh, Saeid Morovvati, Masoumeh Falah

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Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families by Claire L. Simpson, Anthony M. Musolf, Qing Li, Laura Portas, Federico Murgia, Roberto Y. Cordero, Jennifer B. Cordero, Bilal A. Moiz, Emily R. Holzinger, Candace D. Middlebrooks, Deyana D. Lewis, Joan E. Bailey-Wilson, Dwight Stambolian

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Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report by Katina Kartalias, Austin P. Gillies, Maria T. Peña, Andrea Estrada, Dorothy I. Bulas, Carlos R. Ferreira, Laura L. Tosi

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Dentistry Case: Down Syndrome (Thomas) (Out of Print) by Amy Coplen, Christine Klausner, Michael Bleed, Lynn Johnson

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An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome by Deleeuw V, De Clercq A, De Backer J, Sips P

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BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature by Mir Ali, Celia Dawn Delozier, Uzair Chaudhary

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The true panel of cystic fibrosis mutations in the Sicilian population by Sandrine Chamayou, Maria Sicali, Debora Lombardo, Elena Maglia, Annalisa Liprino, Clementina Cardea, Michele Fichera, Ermanno Venti, Antonino Guglielmino

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Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review by Xin Li, Ying Li, Min Lei, Jing Tian, Zuocheng Yang, Shoujin Kuang, Yanjuan Tan, Tao Bo

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A case report of Proteus syndrome (PS) by Xiaoyun Zeng, Xiaoming Wen, Xinxin Liang, Lina Wang, Lingling Xu

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The <it>TCF7L2 </it>locus and type 1 diabetes by Polychronakos Constantin, Qu Hui-Qi

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PERSPECTIVES IN PEDIATRIC PRACTICE by Valeriu Popescu

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Estrogen Receptor-Beta Gene Polymorphism in women with Breast Cancer at the Imam Khomeini Hospital Complex, Iran by Abbasi Sakineh

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Gender differences in the prevalence of congenital heart disease in Down's syndrome: a brief meta-analysis by Tereza Cristina Pinheiro Diogenes, Felipe Alves Mourato, José Luiz de Lima Filho, Sandra da Silva Mattos

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Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel <it>PTEN </it>gene mutation in a patient with Cowden syndrome: Case report by Křepelová Anna, Hatlová Jana, Šenkeříková Mária, Vasovčák Peter

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<it>De novo </it>deletion in <it>MECP2 </it>in a monozygotic twin pair: a case report by Juyal Ramesh, Kabra Madhulika, Mittal Kirti, BK Thelma

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Evolution of Translational Bioinformatics: lessons learned from TBC 2016 by Kye Hwa Lee, Ju Han Kim

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