المؤلفون: Cheff, Dorian M, Muotri, Alysson R, Stockwell, Brent R, Schmidt, Edward E, Ran, Qitao, Kartha, Reena V, Johnson, Simon C, Mittal, Plavi, Arnér, Elias SJ, Wigby, Kristen M, Hall, Matthew D, Ramesh, Sanath Kumar

المصدر: Orphanet Journal of Rare Diseases. 16(1)

مصطلحات موضوعية: Rare Diseases, Genetics, Orphan Drug, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Humans, Osteochondrodysplasias, Sedaghatian-type spondylometaphyseal dysplasia, SSMD, Glutathione peroxidase 4, GPX4, Rare genetic disorder, Therapy development, Roadmap, Ultra-rare disease, Other Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4pb9v6gx

المؤلفون: Antonella Roveri, Flavio Di Giacinto, Monica Rossetto, Giorgio Cozza, Qing Cheng, Giovanni Miotto, Lucio Zennaro, Maria Luisa Di Paolo, Elias S.J. Arnér, Marco De Spirito, Matilde Maiorino, Fulvio Ursini

المصدر: Redox Biology, Vol 64, Iss , Pp 102806- (2023)

مصطلحات موضوعية: GPX4, Selenium, Sedaghatian-type spondylometaphyseal dysplasia, Cardiolipins, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213231723002070; https://doaj.org/toc/2213-2317

URL الوصول: https://doaj.org/article/24aff6af29de4103b3ca9af65c83e808

المؤلفون: Tan, Queenie, Cope, Heidi, Spillmann, Rebecca, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie, Rothman, Jennifer, Butler, Megan, Frush, Donald, Lachman, Ralph, Lee, Brendan, Bacino, Carlos, Bonner, Melanie, McCall, Chad, Pendse, Avani, Walley, Nicole, Shashi, Vandana, Pena, Loren

المصدر: Cold Spring Harbor Molecular Case Studies. 4(5)

مصطلحات موضوعية: congenital thrombocytopenia, exocrine pancreatic insufficiency, hepatic bridging fibrosis, hypercalciuria, intellectual disability, mild, portal fibrosis, short stature, spondylometaphyseal dysplasia, Adolescent, Bone Marrow Diseases, Exocrine Pancreatic Insufficiency, Female, GTP Phosphohydrolases, Genetic Variation, Humans, Lipomatosis, Mutation, Osteochondrodysplasias, Peptide Elongation Factors, Phenotype, Proteins, Ribonucleoprotein, U5 Small Nuclear, Shwachman-Diamond Syndrome, Exome Sequencing

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/60h825g3

المؤلفون: Dorian M. Cheff, Alysson R. Muotri, Brent R. Stockwell, Edward E. Schmidt, Qitao Ran, Reena V. Kartha, Simon C. Johnson, Plavi Mittal, Elias S. J. Arnér, Kristen M. Wigby, Matthew D. Hall, Sanath Kumar Ramesh

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Sedaghatian-type spondylometaphyseal dysplasia, SSMD, Glutathione peroxidase 4, GPX4, Rare genetic disorder, Therapy development, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/b03c183bb33b4ee8b5828e0234f4c132

المؤلفون: Michele A Tchio Tchoumba, Yan Bai, Runming Jin, Xianying Yu, Musa Male

المصدر: Orthopaedic Surgery, Vol 12, Iss 1, Pp 333-336 (2020)

مصطلحات موضوعية: Diagnosis, Metatropic dysplasia, Nonlethal metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Transient receptor potential vanilloid 4, Orthopedic surgery, RD701-811

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-7853; https://doaj.org/toc/1757-7861

URL الوصول: https://doaj.org/article/9cc4ab1b948b4984aef725b53ab84817

المؤلفون: Tager, David^Aff3, Shah, Suken^Aff4, Mackenzie, William G.^Aff5

المساهمون: El-Hawary, Ron, editor^Aff1, Eberson, Craig P., editor^Aff2

المصدر: Early Onset Scoliosis : A Clinical Casebook. :231-243

Degree: MD

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المؤلفون: Simon C. Johnson, Qitao Ran, Kristen Wigby, Dorian M. Cheff, Sanath Kumar Ramesh, Elias S.J. Arnér, Reena V. Kartha, Edward E. Schmidt, Brent R. Stockwell, Matthew D. Hall, Plavi Mittal, Alysson R. Muotri

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Orphanet journal of rare diseases, vol 16, iss 1
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: medicine.medical_specialty, Future studies, Sequencing data, Pharmacology toxicology, Sedaghatian-type spondylometaphyseal dysplasia, Review, Disease, Glutathione peroxidase 4, Osteochondrodysplasias, Rare genetic disorder, Rare Diseases, Therapy development, Genetics, medicine, Humans, 2.1 Biological and endogenous factors, Ultra-rare disease, Pharmacology (medical), Aetiology, Intensive care medicine, Genetics (clinical), Genetics & Heredity, Other Medical and Health Sciences, business.industry, allergology, General Medicine, Human genetics, Drug repositioning, Roadmap, Orphan Drug, Good Health and Well Being, Spondylometaphyseal dysplasia, SSMD, Medicine, business, GPX4

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444f8b2e97dd1570f9c9953db20119d1
https://doaj.org/article/b03c183bb33b4ee8b5828e0234f4c132

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المؤلفون: Roveri, Antonella, Di Giacinto, Flavio, Rossetto, Monica, Cozza, Giorgio, Cheng, Qing, Miotto, Giovanni, Zennaro, Lucio, Di Paolo, Maria Luisa, Arnér, Elias S J, De Spirito, Marco, Maiorino, Matilde, Ursini, Fulvio

مصطلحات موضوعية: Cardiolipins, GPX4, Sedaghatian-type spondylometaphyseal dysplasia, Selenium

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3657::11bab8cd26b3ed29862c201af7fb4a4e
https://hdl.handle.net/11577/3487484