المؤلفون: Joanna Spaulding, Farah Ammouri, Shelly Nielsen, Zephyr VanDyke, Haley Koerselman, Dianna Zaleski, Pamela Althof, Dinesh Lulla

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101628- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442400774X; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/6a1542f44e6d40ab8a94f37f96e3aa06

المؤلفون: Travis Schreier, Joanna Spaulding, Bhavana Dave, Danita Velasco

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100324- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423003242; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/f213cde91bd94422a54f41a4570bcd9e

المؤلفون: Abigail Haggerty, Joanna Spaulding, Sara Fisher, Benjamin Byers, Nicolle Mahoney, Marilu Nelson, Pamela Althof, Bhavana Dave

المصدر: Cytogenetic and Genome Research.

مصطلحات موضوعية: Genetics, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3ad7cf1f9e69f716e0a937a7540d606e
https://doi.org/10.1159/000529619

المؤلفون: Joanna Spaulding, Ann Haskins Olney, Jennifer N. Sanmann, Shelly Nielsen, Marilu Nelson, Angela Beavers, Scott C. Smith

المصدر: American Journal of Medical Genetics Part A. 182:2161-2167

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Optic disc pallor, business.industry, 030105 genetics & heredity, medicine.disease, Corpus callosum, eye diseases, Hypoplasia, 03 medical and health sciences, 030104 developmental biology, Frontal lobe, Dysplasia, Congenital fibrosis of the extraocular muscles, Genetics, medicine, Missense mutation, business, Exotropia, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c81411c4ba37254b6ad1f5ebcd905a93
https://doi.org/10.1002/ajmg.a.61747