Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
Schwarze, Ulrike, Cundy, Tim, Pyott, Shawna M, Christiansen, Helena E, Hegde, Madhuri R, Bank, Ruud A, Pals, Gerard, Ankala, Arunkanth, Conneely, Karen, Seaver, Laurie, Yandow, Suzanne M, Raney, Ellen, Babovic-Vuksanovic, Dusica, Stoler, Joan, Ben-Neriah, Ziva, Segel, Reeval, Lieberman, Sari, Siderius, Liesbeth, Al-Aqeel, Aida, Hannibal, Mark, Hudgins, Louanne, McPherson, Elizabeth, Clemens, Michele, Sussman, Michael D, Steiner, Robert D, Mahan, John, Smith, Rosemarie, Anyane-Yeboa, Kwame, Wynn, Julia, Chong, Karen, Uster, Tami, Aftimos, Salim, Sutton, V Reid, Davis, Elaine C, Kim, Lammy S, Weis, Mary Ann, Eyre, David, Byers, Peter H
Published in Human molecular genetics (01.01.2013)
Published in Human molecular genetics (01.01.2013)
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Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification
Hegde, Madhuri R, Chong, Belinda, Fawkner, Matthew, Lambiris, Nikolas, Peters, Hartmut, Kenneson, Aileen, Warren, Stephen T, Love, Donald R, McGaughran, Julie
Published in Journal of medical genetics (01.09.2001)
Published in Journal of medical genetics (01.09.2001)
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The effect of different bypass flow rates and low-dose dopamine on gut mucosal perfusion and outcome in cardiac surgical patients
SCHNEIDER, M, VALENTINE, S, HEGDE, R. M, PEACOCK, J, MARCH, S, DOBB, G. J
Published in Anaesthesia and intensive care (01.02.1999)
Published in Anaesthesia and intensive care (01.02.1999)
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Conference Proceeding
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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
Richards, C. Sue, Bale, Sherri, Bellissimo, Daniel B., Das, Soma, Grody, Wayne W., Hegde, Madhuri R., Lyon, Elaine, Ward, Brian E.
Published in Genetics in medicine (01.04.2008)
Published in Genetics in medicine (01.04.2008)
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Exploring concordance and discordance for return of incidental findings from clinical sequencing
Green, Robert C., Berg, Jonathan S., Berry, Gerard T., Biesecker, Leslie G., Dimmock, David P., Evans, James P., Grody, Wayne W., Hegde, Madhuri R., Kalia, Sarah, Korf, Bruce R., Krantz, Ian, McGuire, Amy L., Miller, David T., Murray, Michael F., Nussbaum, Robert L., Plon, Sharon E., Rehm, Heidi L., Jacob, Howard J.
Published in Genetics in medicine (01.04.2012)
Published in Genetics in medicine (01.04.2012)
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Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
Jones, Melanie A, Bhide, Shruti, Chin, Ephrem, Ng, Bobby G, Rhodenizer, Devin, Zhang, Victor W, Sun, Jessica J, Tanner, Alice, Freeze, Hudson H, Hegde, Madhuri R
Published in Genetics in medicine (01.11.2011)
Published in Genetics in medicine (01.11.2011)
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Comparative semi-automated analysis of (CAG) repeats in the Huntington disease gene: use of internal standards
Williams, LC, Hedge, MR, Herrera, G, Stapleton, PM, Love, DR
Published in Molecular and cellular probes (01.08.1999)
Published in Molecular and cellular probes (01.08.1999)
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High-flow nasal oxygen availability for sedation decreases the use of general anesthesia during endoscopic retrograde cholangiopancreatography and endoscopic ultrasound
Schumann, Roman, Natov, Nikola S, Rocuts-Martinez, Klifford A, Finkelman, Matthew D, Phan, Tom V, Hegde, Sanjay R, Knapp, Robert M
Published in World journal of gastroenterology : WJG (21.12.2016)
Published in World journal of gastroenterology : WJG (21.12.2016)
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MUSIC-group delay based methods for robust DOA estimation using shrinkage estimators
Kumar, L., Mandala, R., Hegde, R. M.
Published in 2012 IEEE 7th Sensor Array and Multichannel Signal Processing Workshop (SAM) (01.06.2012)
Published in 2012 IEEE 7th Sensor Array and Multichannel Signal Processing Workshop (SAM) (01.06.2012)
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Conference Proceeding
Dry-matter production and accumulation in different parts of galangal (Kaempferia galanga) as influenced by agronomic practices when grown as an intercrop in coconut garden
Maheshwarappa, H.P. (Central Plantation Crops Research Institute, Kayangulam, (India). Regional Station), Nanjappa, H.V. (Univ. of Agricultural Sciences, Bangalore (India). Agricultural College), Hegde, M.R. (TOT, Bangalore (India). Zonal Coordinating Unit)
Published in Indian journal of agronomy (01.12.2000)
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Published in Indian journal of agronomy (01.12.2000)
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A Homozygous Mutation in MSH6 Causes Turcot Syndrome
HEGDE, Madhuri R, CHONG, Belinda, BLAZO, Maria E, CHIN, Lip Hon E, WARD, Patricia A, CHINTAGUMPALA, Murali M, KIM, John Y, PLAN, Sharon E, RICHARDS, C. Sue
Published in Clinical cancer research (01.07.2005)
Published in Clinical cancer research (01.07.2005)
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