Polycystic liver disease with huge infected cyst displacing the pancreas, inferior vena cava and right kidney
Adil H Al-Harthi, Patan M Khan, Marwan Al Marwani · Saudi Journal of Medicine and Medical Sciences · 2016
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Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants
Luca Brunelli, Sabrina M. Jenkins, James M. Gudgeon et al. · Molecular Genetics & Genomic Medicine · 2019
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Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene
Mirella Vinci, Petri Kursula, Donatella Greco et al. · Molecular Genetics & Genomic Medicine · 2022
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A Novel Variant c.847T>C in Gene Leading to Pycnodysostosis: A Case Report
Inder Pal Singh Kochar, Aashish Sethi, Ayesha Ahamad · Clinical Medicine Insights: Case Reports · 2019
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A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene
Caitlin T. Fierheller, Laure Guitton-Sert, Wejdan M. Alenezi et al. · Genome Medicine · 2021
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"Sequencing-grade" screening for <it>BRCA1 </it>variants by oligo-arrays
Fasano Ross, Sabatino Marianna, Tommasi Stefania et al. · Journal of Translational Medicine · 2008
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Melorheostosis mimicking synovial osteochondromatosis
Vibhor Wadhwa, Avneesh Chhabra, Jonathan D. Samet · Annals of Saudi Medicine · 2014
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Uveal Effusion Syndrome: Clinical Characteristics, Outcome of Surgical Treatment, and Histopathological Examination of the Sclera
Nan Zhou, Lihong Yang, Xiaolin Xu et al. · Frontiers in Medicine · 2022
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Systemic Lupus Erythematosus with Crohn’s Disease: A Rare Combination and Unusual Presentation
Abdulrahman Algassim, Naif Alghonaim, Ibrahim Alruzug et al. · European Journal of Case Reports in Internal Medicine · 2021
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Spectratyping analysis of the islet-reactive T cell repertoire in diabetic NOD Igμ null mice after polyclonal B cell reconstitution
Sercarz Eli E, Braciak Todd A, Sheng Huiming et al. · Journal of Translational Medicine · 2011
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Polygenic risk scores: a biased prediction?
Francisco M. De La Vega, Carlos D. Bustamante · Genome Medicine · 2018
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Mendelian Randomization Study of Heart Failure and Stroke Subtypes
Quan Li, Quan Li, Shijiao Yan et al. · Frontiers in Cardiovascular Medicine · 2022
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Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
Mianne Lee, Anna K. Y. Kwong, Martin M. C. Chui et al. · npj Genomic Medicine · 2022
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Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report
Tingting Wan, Jinyan Ye, Peiliang Wu et al. · BMC Pulmonary Medicine · 2020
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Impact of phytosterols on liver and distal colon metabolome in experimental murine colitis model: an explorative study
Nunzia Iaccarino, Jussara Amato, Bruno Pagano et al. · Journal of Enzyme Inhibition and Medicinal Chemistry · 2019
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NARD: whole-genome reference panel of 1779 Northeast Asians improves imputation accuracy of rare and low-frequency variants
Seong-Keun Yoo, Chang-Uk Kim, Hie Lim Kim et al. · Genome Medicine · 2019
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Genetic testing users in Italy and Germany: Health orientation, health‐related habits, and psychological profile
Giulia Ongaro, Eleonora Brivio, Clizia Cincidda et al. · Molecular Genetics & Genomic Medicine · 2022
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EM-mosaic detects mosaic point mutations that contribute to congenital heart disease
Alexander Hsieh, Sarah U. Morton, Jon A. L. Willcox et al. · Genome Medicine · 2020
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Seropositive Rheumatoid Arthritis with Very Unusual X-ray Findings
Laith Alamlih, Mohamed Alkahlout, Abdulrahim Siam et al. · European Journal of Case Reports in Internal Medicine · 2018
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Resection and survival data from a clinical trial of glioblastoma multiforme‐specific IRDye800‐BBN fluorescence‐guided surgery
Kunshan He, Chongwei Chi, Deling Li et al. · Bioengineering & Translational Medicine · 2021
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