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: 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

المؤلفون: Leslie Kirkes, Jay Jang, Priya Hora, Chammi Miller, Luzheng Zhang, Ryan Jackson, Randall Arnold, Shelly Nielsen, Antonio Triventi

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::167a61ffd43723b3e04863391db85ff8
https://doi.org/10.2172/1891052

المؤلفون: Vivek Dhir, Omar A. Abdul-Rahman, Nils Krone, Nicole Reisch, Laura G. Hendon, Hannah E Ivison, Rachel Harrison, Shelly Nielsen, Ann Haskins Olney, Beverly A. Hughes, Jan Idkowiak, Cedric H. L. Shackleton, Wiebke Arlt, Edward Blair

المصدر: The Journal of Clinical Endocrinology and Metabolism
The Journal of Clinical Endocrinology & Metabolism; Vol 98

مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Compound heterozygosity, Biochemistry, 0302 clinical medicine, Endocrinology, Pregnancy, Prenatal Diagnosis, Mass Screening, 0303 health sciences, JCEM Online: Advances in Genetics, Homozygote, Steroid 17-alpha-Hydroxylase, Virilism, 3. Good health, Phenotype, Pregnancy Trimester, Second, Pregnanediol, Female, Glucocorticoid, medicine.drug, medicine.medical_specialty, Heterozygote, 030209 endocrinology & metabolism, Prenatal diagnosis, Context (language use), Biology, Androsterone, Ultrasonography, Prenatal, 03 medical and health sciences, Predictive Value of Tests, Internal medicine, medicine, Humans, Congenital adrenal hyperplasia, Abnormalities, Multiple, Mass screening, 030304 developmental biology, Gynecology, Fetus, Adrenal Hyperplasia, Congenital, Estriol, Biochemistry (medical), medicine.disease, Radiography, Steroid 21-Hydroxylase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c3677c6a1a8694fe9bb8d4303a2b5c3
http://europepmc.org/articles/PMC3708032