Search Results - "genetic testing"

Two Children With Novel TRPC6 Spontaneous Missense Mutations and Atypical Phenotype: A Case Report and Literature Review by Meiqiu Wang, Ren Wang, Xu He, Min Yu, Min Yu, Zhengkun Xia, Chunlin Gao

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Microcephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family by Thinh Huy Tran, Quang Minh Diep, My Ha Cao, Long Hoang Luong, Van Anh Pham, Oanh Thi Lan Dinh, The-Hung Bui, Thanh Van Ta, Van Khanh Tran

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Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome in a young patient presenting with a large uterus: A case report and review of the literature by Nora Shero, Esther Yoon, Joel Cardenas Goicoechea

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Preimplantation sex selection via in vitro fertilization: time for a reappraisal by Vitaly A. Kushnir, MD, Eli Y. Adashi, MD, MS, I. Glenn Cohen, JD

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Genetic and Non-genetic Workup for Pediatric Congenital Hearing Loss by Ryan Belcher, Frank Virgin, Jessica Duis, Christopher Wootten

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Superior vesical fissure concealed by giant omphalocele: A case report by Danial Hayek, Eric Massanyi, Melissa Mancuso, Katherine Krepkovich, Aaron Garrison

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Prevalence of genetic causes of obesity in clinical practice by Jaclyn Tamaroff, Dylan Williamson, James C. Slaughter, Meng Xu, Gitanjali Srivastava, Ashley H. Shoemaker

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"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports by Daniel Tibussek, Sujal Ghosh, Angela Huebner, Joerg Schaper, Ertan Mayatepek, Katrin Koehler

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Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam by Hoa Giang, Vu T Nguyen, Sinh D Nguyen, Huu-Phuc Nguyen, Binh T Vo, Truc M Nguyen, Nguyen H Nguyen, Kiet D Truong, Thanh-Thuy T Do, Minh-Duy Phan, Hoai-Nghia Nguyen

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Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort by Zied Landoulsi, Sawssan Benromdhan, Mouna Ben Djebara, Mariem Damak, Hamza Dallali, Rym Kefi, Sonia Abdelhak, Amina Gargouri-Berrechid, Chokri Mhiri, Riadh Gouider

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Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review by Yan Lü, Yulin Jiang, Huanwen Wu, Qingwei Qi, Xiya Zhou, Qi Guo, Na Hao, Juntao Liu, Hua Meng

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Comparison of chromosomal status in reserved multiple displacement amplification products of embryos that resulted in miscarriages or live births: a blinded, nonselection case-cont... by Guoxia Yang, Yan Xu, Yanhong Zeng, Jing Guo, Jiafu Pan, Canquan Zhou, Yanwen Xu

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Genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists by Aditya Ekawade, Matt Velinder, Alistair Ward, Tonya DiSera, Chase Miller, Yi Qiao, Gabor Marth

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The Australian moratorium on genetics and life insurance: evaluating policy compared to Parliamentary recommendations regarding genetic discrimination by Jane Tiller |, Paul Lacaze |, Margaret Otlowski

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Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis by Barton David E, King Caitriona

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A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report by Dun Yang, Jiaoyun Zheng, Fei Tang, Qiongzhi He, Hui Huang, Peng Zhou

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The ENGAGE study: a 3-arm randomized hybrid type 1 effectiveness and implementation study of an in-home, collaborative PCP model of remote telegenetic services to increase uptake o... by Tara O. Henderson, Mary Ashley Allen, Rajia Mim, Brian Egleston, Linda Fleisher, Elena Elkin, Kevin Oeffinger, Kevin Krull, Demetrios Ofidis, Briana Mcleod, Hannah Griffin, Elizabeth Wood, Cara Cacioppo, Michelle Weinberg, Sarah Brown, Sarah Howe, Aaron McDonald, Chris Vukadinovich, Shani Alston, Dayton Rinehart, Gregory T. Armstrong, Angela R. Bradbury

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Molecular testing panel in colorectal cancer by Yi Ding, Guoli Chen

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An uncommon cause of diabetes by Rita S. Matos, Marta Ferreira, Joana Vilaverde

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The spectrum of clinical presentation in haploinsufficiency of A20; a case report of a novel mutation in TNFAIP3 gene by M. Debeljak, M. Debeljak, S. Blazina, J. Brecelj, J. Brecelj, T. Avčin, T. Avčin, N. Toplak, N. Toplak

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