المؤلفون: Zabnenkova V, Shchagina O, Makienko O, Matyushchenko G, Ryzhkova O

المصدر: The Application of Clinical Genetics, Vol Volume 15, Pp 1-10 (2022)

مصطلحات موضوعية: mgs 5, ear-patella-short stature syndrome, cdc6 gene, case report, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/novel-compound-heterozygous-variants-in-the-cdc6-gene-in-a-russian-pat-peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/9eff1b0b07604de091644025e9219f3f

المؤلفون: Rabah M. Shawky, Heba Salah Abd-Elkhalek Elabd, Radwa Gamal, Shaimaa Abdelsattar Mohammad, Shaimaa Gad

المصدر: Egyptian Journal of Medical Human Genetics, Vol 15, Iss 4, Pp 393-398 (2014)

مصطلحات موضوعية: Meier-Gorlin syndrome, Ear-patella-short stature syndrome, Primordial dwarfism, Microtia, Absent patella, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1110863014000561; https://doaj.org/toc/1110-8630

URL الوصول: https://doaj.org/article/c45b3161377e4db8b423b41aaa174be7

المؤلفون: Nabanita Kora, Kaustav Nayek, Baisakhi Soren, Rajib Das

المصدر: Journal of Pediatric and Neonatal Individualized Medicine, Vol 5, Iss 1, Pp e050123-e050123 (2016)

مصطلحات موضوعية: Meier-Gorlin syndrome, ear-patella-short stature syndrome, microtia, ventriculomegaly, hypoplastic corpus callosum, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.jpnim.com/index.php/jpnim/article/view/050123; https://doaj.org/toc/2281-0692

URL الوصول: https://doaj.org/article/4852e4a95f4040cfa9bd91b3a973e3c8

المؤلفون: De Munnik, Sonja A., Hoefsloot, Elisabeth H., Roukema, Jolt, Schoots, Jeroen, Knoers, Nine Vam, Brunner, Han G., Jackson, Andrew P., Bongers, Ernie Mhf

المصدر: Orphanet Journal of Rare Diseases, 10(1). BioMed Central

مصطلحات موضوعية: Medicine(all), Pre-replication complex, Short stature, Origin recognition complex, Microtia, Journal Article, Ear patella short stature syndrome, Patellar a-/hypoplasia, Genetics(clinical), Pharmacology (medical), Meier-Gorlin syndrome, Review

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7266e32d3dc8147a55b50d4b7b2895f7
https://dspace.library.uu.nl/handle/1874/331889

المصدر: Orphanet Journal of Rare Diseases. 10(1)

مصطلحات موضوعية: Medicine(all), Pre-replication complex, Short stature, Origin recognition complex, Microtia, Journal Article, Ear patella short stature syndrome, Patellar a-/hypoplasia, Genetics(clinical), Pharmacology (medical), Meier-Gorlin syndrome, Review

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___00893::3405fe70414fab930e719e7f61542874
https://hdl.handle.net/1874/331889

المؤلفون: Sonja A. de Munnik, Andrew P. Jackson, Jolt Roukema, Elisabeth H Hoefsloot, Jeroen Schoots, Nine V A M Knoers, Han G. Brunner, Ernie M.H.F. Bongers

المساهمون: Hematology

المصدر: Orphanet Journal of Rare Diseases, 10. BioMed Central Ltd.
Orphanet Journal of Rare Diseases
de Munnik, S A, Hoefsloot, E H, Roukema, J, Schoots, J, Knoers, N V A M, Brunner, H G, Jackson, A P & Bongers, E M H F 2015, ' Meier-Gorlin syndrome ', Orphanet journal of rare diseases, vol. 10, pp. 114 . https://doi.org/10.1186/s13023-015-0322-x
Orphanet Journal of Rare Diseases, 10, 114
Orphanet Journal of Rare Diseases, 10, pp. 114

مصطلحات موضوعية: Male, Pediatrics, Review, Patella/abnormalities, Micrognathism, Laryngomalacia, Genetics(clinical), Pharmacology (medical), Growth Disorders/diagnosis, Genetics (clinical), Growth Disorders, Medicine(all), Proportionate short stature, Ear patella short stature syndrome, General Medicine, Anatomy, Patella, Hypoplasia, Growth hormone treatment, Microtia, Female, Abnormalities, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, Congenital Microtia/diagnosis, Short stature, Urogenital Abnormalities/diagnosis, medicine, Humans, Patellar a-/hypoplasia, Abnormalities, Multiple, Congenital Microtia, Pre-replication complex, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Multiple/diagnosis, business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Meier-Gorlin syndrome, medicine.disease, Micrognathism/diagnosis, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], Origin recognition complex, Urogenital Abnormalities, business, Primordial dwarfism

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4acdc49430e85e14c25247b0c76132a1
https://doi.org/10.1186/s13023-015-0322-x

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