المؤلفون: Meyer, April N, Modaff, Peggy, Wang, Clark G, Wohler, Elizabeth, Sobreira, Nara L, Donoghue, Daniel J, Pauli, Richard M

المصدر: American Journal of Medical Genetics Part A. 185(3)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Aetiology, 2.1 Biological and endogenous factors, Achondroplasia, Adolescent, Adult, Female, Humans, Male, Mutation, Phosphorylation, Prognosis, Receptor, Fibroblast Growth Factor, Type 3, Signal Transduction, achondroplasia, fibroblast growth factor receptor 3, in vitro functional studies, Genetics, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7bp349n4Test

المؤلفون: Nahm, Nickolas J., Mackenzie, W. G. Stuart, Mackenzie, William G., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria Elena, Smid, Cory J., Hoover-Fong, Julie, Bober, Michael B.

المساهمون: BioMarin Pharmaceutical, Alan and Kathryn Greenberg Center for Skeletal Dysplasia at Johns Hopkins University

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-023-02738-xTest

المؤلفون: Campbell, Jeffrey, Legare, Janet M., Piatt, Joseph, Gough, Ethan, Pauli, Richard M., Hashmi, S. Shahrukh, Rodriguez-Buritica, David F., Modaff, Peggy, Little, Mary Ellen, Serna, Maria Elena, Smid, Cory J., Dujmusic, Lorena, Hecht, Jacqueline T., Hoover-Fong, Julie E., Bober, Michael B.

المصدر: Journal of Neurosurgery: Pediatrics; Dec2023, Vol. 32 Issue 6, p649-656, 8p

المؤلفون: Hoover-Fong, Julie E., Schulze, Kerry J., Alade, Adekemi Y., Bober, Michael B., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria E., Smid, Cory, Liu, Chengxin, McGready, John

المساهمون: biomarin pharmaceutical

المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-021-02141-4Test

المؤلفون: Hoover-Fong, Julie E., Alade, Adekemi Y., Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Liu, Chengxin, McGready, John, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Schulze, Kerry J., Serna, Maria Elena, Smid, Cory J., Bober, Michael B.

المصدر: Genetics in Medicine ; volume 23, issue 8, page 1498-1505 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-021-01165-2Test
https://www.nature.com/articles/s41436-021-01165-2.pdfTest
https://www.nature.com/articles/s41436-021-01165-2Test
https://api.elsevier.com/content/article/PII:S1098360021050693?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021050693?httpAccept=text/plainTest

المؤلفون: Smid, Cory J., Legare, Janet M., Modaff, Peggy, Pauli, Richard M.

المساهمون: Department of Pediatrics, University of Wisconsin-Madison

المصدر: Orphanet Journal of Rare Diseases ; volume 15, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-020-01584-5Test

المؤلفون: Brar, Bobby K., Bober, Michael B., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Dujmusic, Lorena, Little, Mary E., Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria E., Smid, Cory, Legare, Janet M., Hoover-Fong, Julie E.

المصدر: Genetics in Medicine ; volume 25, issue 7, page 100845 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.100845Test
https://api.elsevier.com/content/article/PII:S1098360023008584?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023008584?httpAccept=text/plainTest

المؤلفون: Brar, Bobby, Hoover-Fong, Julie E., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Dujmusic, Lorena, Little, Mary E., Modaff, Peggy, Pauli, Richard M., Rodriguez – Buritica, David, Serna, Maria E., Smid, Cory, Bober, Michael B.

المصدر: American Journal of Obstetrics and Gynecology ; volume 228, issue 1, page S612 ; ISSN 0002-9378

مصطلحات موضوعية: Obstetrics and Gynecology

الإتاحة: https://doi.org/10.1016/j.ajog.2022.11.1038Test
https://api.elsevier.com/content/article/PII:S0002937822019226?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002937822019226?httpAccept=text/plainTest

المؤلفون: Pauli, Richard M.

المساهمون: School of Medicine and Public Health, University of Wisconsin-Madison

المصدر: Orphanet Journal of Rare Diseases ; volume 14, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-018-0972-6Test

المؤلفون: Nahm, Nickolas J., Mackenzie, W. G. Stuart, Mackenzie, William G., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria Elena, Smid, Cory J., Hoover-Fong, Julie, Bober, Michael B.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65691ffe4b1a9fd5a079615c85d33a6cTest