Zoekresultaten - Hegde, Madhuri

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine door Bean, Lora, Hegde, Madhuri R.

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Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines door Bean, Lora J. H., Hegde, Madhuri R.

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Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations door Chin, Ephrem LH, da Silva, Cristina, Hegde, Madhuri

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Assay Validation for Identification of Hereditary Nonpolyposis Colon Cancer-Causing Mutations in Mismatch Repair Genes MLH1, MSH2, and MSH6 door Hegde, Madhuri, Blazo, Maria, Chong, Belinda, Prior, Tom, Richards, Carolyn

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MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency door Pervaiz, Muhammad Ali, Kendal, Fran, Hegde, Madhuri, Singh, Rani H.

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Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease door Tanner, Alice K, Chin, Ephrem L H, Duffner, Patricia K, Hegde, Madhuri

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Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy door Nallamilli, Babi Ramesh Reddy, Chakravorty, Samya, Kesari, Akanchha, Bean, Lora, Hegde, Madhuri

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Diagnostic yield from 339 epilepsy patients screened on a clinical gene panel door Butler, Kameryn M., da Silva, Cristina, Alexander, John J., Hegde, Madhuri, Escayg, Andrew

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Detection limit of intragenic deletions with targeted array comparative genomic hybridization door Askree, S Hussain, Chin, Ephrem LH, Bean, Lora H, Coffee, Bradford, Tanner, Alice, Hegde, Madhuri

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Microarray-based mutation detection in the dystrophin gene door Hegde, Madhuri R., Chin, Ephrem L.H., Mulle, Jennifer G., Okou, David T., Warren, Stephen T., Zwick, Michael E.

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Empirical Evaluation of Oligonucleotide Probe Selection for DNA Microarrays door Mulle, Jennifer G., Patel, Viren C., Warren, Stephen T., Hegde, Madhuri R., Cutler, David J., Zwick, Michael E.

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A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis door Hjelm, Lawrence N., Chin, Ephrem L.H., Hegde, Madhuri R., Coffee, Bradford W., Bean, Lora J.H.

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Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine door Garber, Kathryn B., Vincent, Lisa M., Alexander, John J., Bean, Lora J.H., Bale, Sherri, Hegde, Madhuri

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Unusually early presentation of small-bowel adenocarcinoma in a patient with Peutz-Jeghers syndrome door Wangler, Michael F., Chavan, Rishikesh, Hicks, M. John, Nuchtern, Jed.G., Hegde, Madhuri, Plon, Sharon E., Thompson, Patrick A.

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De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis door Butler, Kameryn M., da Silva, Cristina, Shafir, Yuval, Weisfeld-Adams, James D., Alexander, John J., Hegde, Madhuri, Escayg, Andrew

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Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis: A Report of the Association for Molecular Pathology door Sabatini, Linda M., Mathews, Charles, Ptak, Devon, Doshi, Shivang, Tynan, Katherine, Hegde, Madhuri R., Burke, Tara L., Bossler, Aaron D.

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eP321: Extending and adapting the functions of genetic laboratories in the continuing COVID pandemic–challenges and successes door Bean, Lora, Rosendorff, Adam, Dallaire, Stephanie, Chin, Eprem, Jarvis, Ian, Borandi, P.J., Romigh, Sean, Dennewitz, LeeAnn, Hegde, Madhuri

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Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene door Ankala, Arunkanth, Kohn, Jordan N., Hegde, Anisha, Meka, Arjun, Ephrem, Chin Lip Hon, Askree, Syed H., Bhide, Shruti, Hegde, Madhuri R.

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Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy door Valencia, C. Alexander, Rhodenizer, Devin, Bhide, Shruti, Chin, Ephrem, Littlejohn, Martin Robert, Keong, Lisa Mari, Rutkowski, Anne, Bonnemann, Carsten, Hegde, Madhuri

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A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides door Dominov, Janice A, Uyan, Özgün, Sapp, Peter C, McKenna-Yasek, Diane, Nallamilli, Babi R R, Hegde, Madhuri, Brown, Robert H

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