Search Results - "genetic testing"

Serous tubal intraepithelial carcinoma (STIC) outcomes in an average risk population by Kimberly T. Stewart, Lien Hoang, Janice S. Kwon

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Embryo ploidy status classification through computer-assisted morphology assessmentAJOG MFM at a Glance by Gunawan Bondan Danardono, SKom, BEng, Nining Handayani, DVM, MBiomed, Claudio Michael Louis, SKom, BEng, Arie Adrianus Polim, MD, SpOG, DMAS, MBHRE, Batara Sirait, SpOG, Gusti Periastiningrum, SSi, Szeifoul Afadlal, PhD, Arief Boediono, DVM, Ivan Sini, MD, FRANZOG, GDRM, MMIS, SpOG

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Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches by Merlin G. Butler, Jessica Duis

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MYT1L mutation in a patient with severe early-onset obesity and intellectual disability by André Costa e Silva, Inês Maio, Cecília Martins, Sara Pires, Cláudia Gonçalves

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GENETIC APPROACH IN THE DIAGNOSIS OF CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT by Katja Jarc Georgiev, Matjaž Kopač, Sara Bertok

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Genetic detection of congenital heart disease by Sumathi I. Rachamadugu, Kristen A. Miller, Ina H. Lee, Ying S. Zou

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Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis) by Shao-Jia Mao, Yu-Mei Zu, Yang-Li Dai, Chao-Chun Zou

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Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping by Cheng-Wei Wang, Yung-Liang Liu, Chi-Huang Chen

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Progress in the diagnostic techniques for localized scleroderma by Songlu ZENG, Jiuzuo HUANG, Xiao LONG

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Cardiac manifestations of PRKAG2 mutation by Pooya Banankhah, Gregory A. Fishbein, Anthony Dota, Reza Ardehali

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MEDICAL DATA PROTECTION IN RELATION TO HUMAN GENETIC DISCRIMINATION by Mariela Yaneva - Deliverska

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Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia by Shijin Wen, Xiaoshan Min, Ying Zhu, Xia Zhou

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Prenatal ultrasound findings of ectodermal dysplasia: a case report by Liang Li, Yi Zhou, Ruixia Tian, Chaoxue Zhang

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Prenatal Diagnosis of Two Common Inborn Errors of Metabolism by Genetic and Mass Spectrometric Analysis of Amniotic Fluid by Congcong Shi, Sitao Li, Yu Gao, Zhirong Deng, Hu Hao, Xin Xiao

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Case Report: A Rare Case of Primary Angiosarcoma of the Cervix with a Literature Review by Song Y, Li R, Wang L, Wang H

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Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists by Tina K. Truong, Aileen Kenneson, Ami R. Rosen, Rani H. Singh

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A proof-of-concept study of cascade screening for Familial Hypercholesterolemia in the US, adapted from the Dutch model by Mary P. McGowan, Marina Cuchel, Catherine D. Ahmed, Amit Khera, William S. Weintraub, Katherine A. Wilemon, Zahid Ahmad

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Challenges experienced by genetic counselors while they provided counseling about mosaic embryos by Olivia M. Moran, M.Sc, Kayla Flamenbaum, M.S, Diane Myles Reid, M.S, Jeanna M. McCuaig, Ph.D, Riyana Babul-Hirji, M.Sc, David Chitayat, M.D, Maian Roifman, M.D

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Case Report: Early-onset or recalcitrant cytopenias as presenting manifestations of activated PI3Kδ syndrome by Allison S. Remiker, Allison S. Remiker, Joao Pedro Matias Lopes, Rohith Jesudas, Alexandra Superdock, Nami Park, Irina Pateva, Irina Pateva

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Patient Interactions With an Automated Conversational Agent Delivering Pretest Genetics Education: Descriptive Study by Daniel Chavez-Yenter, Kadyn E Kimball, Wendy Kohlmann, Rachelle Lorenz Chambers, Richard L Bradshaw, Whitney F Espinel, Michael Flynn, Amanda Gammon, Eric Goldberg, Kelsi J Hagerty, Rachel Hess, Cecilia Kessler, Rachel Monahan, Danielle Temares, Katie Tobik, Devin M Mann, Kensaku Kawamoto, Guilherme Del Fiol, Saundra S Buys, Ophira Ginsburg, Kimberly A Kaphingst

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