Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation
Couser, Natario L., Pande, Chetna K., Turcott, Christie M., Spector, Elaine B., Aylsworth, Arthur S., Powell, Cynthia M.
Published in American journal of medical genetics. Part A (01.04.2017)
Published in American journal of medical genetics. Part A (01.04.2017)
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Journal Article
A novel STXBP1 mutation causes focal seizures with neonatal onset
Vatta, Matteo, Tennison, Michael B, Aylsworth, Arthur S, Turcott, Christie M, Guerra, Maria P, Eng, Christine M, Yang, Yaping
Published in Journal of child neurology (01.06.2012)
Published in Journal of child neurology (01.06.2012)
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Journal Article
A 137‐kb deletion within the Potocki–Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia
Montgomery, Nathan D., Turcott, Christie M., Tepperberg, James H., McDonald, Marie T., Aylsworth, Arthur S.
Published in American journal of medical genetics. Part A (01.01.2013)
Published in American journal of medical genetics. Part A (01.01.2013)
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Journal Article
eP510: High patient satisfaction with specialty pediatric services using telemedicine during the COVID-19 pandemic
Schwoerer, Jessica Scott, Zoran, Sara, Whitehead, Amy, Hrabik, Lynn, Harris, Anne, Stanley, Maria, Turcott, Christie
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
2. Two patients demonstrating the rare phenomenon of rod/ring mosaicism
Strande, Natasha T., Hayden, Melissa A., Poss, Alexis F., Turcott, Christie M., Pandya, Arti, Aylsworth, Arthur S., Rao, Kathleen W., Kaiser-Rogers, Kathleen
Published in Cancer genetics (01.08.2018)
Published in Cancer genetics (01.08.2018)
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Journal Article
A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia
Montgomery, Nathan D., Turcott, Christie M., Tepperberg, James H., McDonald, Marie T., Aylsworth, Arthur S.
Published in American Journal of Medical Genetics Part A (01.01.2013)
Published in American Journal of Medical Genetics Part A (01.01.2013)
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