Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Kimberly J. Moles"'
Autor:
Jennifer Lantz, Jodi Lewis, Elizabeth Miller, Marc S. Williams, Caitlin Valentin, Jill A. Rosenfeld, Timothy Wilks, Beth S. Torchia, J. Britt Ravnan, Berkley R. Powell, Lisa G. Shaffer, Kimberly Leiser, S. Annie Morton, Sara L. Minier, Cathryn Walker, Kimberly J. Moles, Ryan N. Traylor, Nicholas J. Neill, Jay W. Ellison
Publikováno v:
Pediatrics. 130:e1085-e1095
OBJECTIVE: To test the hypothesis that chromosomal microarray analysis frequently diagnoses conditions that require specific medical follow-up and that referring physicians respond appropriately to abnormal test results. METHODS: A total of 46 298 po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e373ef3fca6f9fddaa637c337dd88ec
https://doi.org/10.1542/peds.2012-0568
https://doi.org/10.1542/peds.2012-0568
Autor:
Arthur Yu, Kimberly J. Moles, Lisa G. Shaffer, Roger A. Schultz, Jill A. Rosenfeld, Satyanarayana Gedela, Laurie H. Seaver, Beth S. Torchia, Gordon C. Gowans, David Q. Beversdorf
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 14(5)
Neurofibromatosis, type 1 (NF1) is an autosomal dominant disorder caused by mutations of the neurofibromin 1 (NF1) gene at 17q11.2. Approximately 5% of individuals with NF1 have a 1.4-Mb heterozygous 17q11.2 deletion encompassing NF1, formed through
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a37b5f7486a0ffd51926fa4eff8376cb
https://pubmed.ncbi.nlm.nih.gov/23037932
https://pubmed.ncbi.nlm.nih.gov/23037932