Publications by authors named "Michael L Raff"

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Strategies to Assess Risk for Hereditary Cancer in Primary Care Clinics: A Cluster Randomized Clinical Trial.
Elizabeth M Swisher, Heather M Harris, Sarah Knerr, Tesla N Theoryn, Barbara M Norquist, Michael L Raff

JAMA Netw Open· March 2025

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An Mutation in a Large Chinese Kindred With Familial Adenomatous Polyposis Was Identified Using Both Next Generation Sequencing and Simple STR Marker Haplotypes.
Qitao Zhan, Liya Wang, Xiangrong Xu, Yan Sun, Lejun Li, Michael L Raff

Front Genet· March 2020

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Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma.
Santasree Banerjee, Yunqing Ren, Tianying Wei, Zhongwei Zhou, Ping Yu, Michael L Raff

Exp Dermatol· February 2015

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High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.
Margaret L Illson, Laura Dempsey-Nunez, Jana Kent, Qiuying Huang, Alison Brebner, Michael L Raff

Mol Genet Metab· March 2014

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Androgenetic/biparental mosaicism in an infant with hepatic mesenchymal hamartoma and placental mesenchymal dysplasia.
Robyn C Reed, Linda Beischel, Jonathan Schoof, John Johnson, Michael L Raff

Pediatr Dev Pathol· January 2009

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Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.
Karen D Tsuchiya, Kent E Opheim, Mark C Hannibal, Anne V Hing, Ian A Glass, Michael L Raff

Mol Cytogenet· April 2008

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Spondylometaphyseal dysplasia with cone-rod dystrophy.
Brent A Walters, Michael L Raff, James Ver Hoeve, Rachel Tesser, Leonard O Langer

Am J Med Genet A· September 2004

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Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.
Michael J Bennett, Richard L Boriack, Srinivas Narayan, S Lane Rutledge, Michael L Raff

Mol Genet Metab· May 2004

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Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.
Frank J Kaiser, Paola Brega, Michael L Raff, Peter H Byers, Sabina Gallati

Eur J Hum Genet· February 2004

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