PMC Links for Nucleotide (Select 225703133) - PMC

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Items: 3

Select item 44384581.

A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing

Ponnumony John Solomon, Priya Margaret, Ramya Rajendran, Revathy Ramalingam, Godfred A Menezes, Alph S Shirley, Seung Jun Lee, Moon-Woo Seong, Sung Sup Park, Dodam Seol, Soo Hyun Seo

Ital J Pediatr. 2015; 41: 38. Published online 2015 May 8. doi: 10.1186/s13052-015-0142-6

PMCID:: PMC4438458

Abstract Article PDF–681K

Select item 29707262.

Experience with Carrier Screening and Prenatal Diagnosis for Sixteen Ashkenazi Jewish Genetic Diseases

Stuart A. Scott, Lisa Edelmann, Liu Liu, Minjie Luo, Robert J. Desnick, Ruth Kornreich

Hum Mutat. Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: Hum Mutat. 2010 Nov; 31(11): 1240–1250. doi: 10.1002/humu.21327

PMCID:: PMC2970726

Abstract Article PDF–358K

Select item 27657513.

Development of Genomic DNA Reference Materials for Genetic Testing of Disorders Common in People of Ashkenazi Jewish Descent

Lisa Kalman, Jean Amos Wilson, Arlene Buller, John Dixon, Lisa Edelmann, Louis Geller, William Edward Highsmith, Leonard Holtegaard, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur, Tina Sellers, Lorraine Toji, Kasinathan Muralidharan

J Mol Diagn. 2009 Nov; 11(6): 530–536. doi: 10.2353/jmoldx.2009.090050