Katherine Abell

Years Active: 2020-2020
Publications (10 Years): 3

This page only lists publications with an associated author ORCID identifier.

Publications

Katherine Abell, Robert J Hopkin, Patricia L Bender, Farrah Jackson, Kelly Smallwood, Bonnie Sullivan, Rolf W Stottmann, Howard M Saal, Kathryn Nicole Weaver
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. American journal of medical genetics. Part A 185 (2) (2020)
Katherine Abell, Leandra Tolusso, Nicki Smith, Robert Hopkin, Marissa Vawter-Lee, Mounira Habli, Stefanie Riddle, Maria A Calvo-Garcia, Qiaoning Guan, Karin Bierbrauer, Vivian Hwa, Howard M Saal
Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes. Birth defects research 112 (19) (2020)
Katherine Abell, Sarah E Chadwell, Thomas Andrew Burrow, Ana Paula Pizzio Becker, Laurie Bailey, Paul Steele, Xue Zhang, Miguel Islas-Ohlmayer, Rosane Bittencourt, Ida Vanessa Döederlein Schwartz, Carlos E Prada
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States. American journal of medical genetics. Part C, Seminars in medical genetics 184 (4) (2020)

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