المؤلفون: Gunda Petraitytė, Kamilė Šiaurytė, Violeta Mikštienė, Loreta Cimbalistienė, Dovilė Kriaučiūnienė, Aušra Matulevičienė, Algirdas Utkus, Eglė Preikšaitienė

المصدر: BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: Acrodysostosis, ACRDYS2, PDE4D, Skeletal abnormalities, Intellectual disability, Case report, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6823

URL الوصول: https://doaj.org/article/98a20fbf7d584d77a7fc98e358505ab6

المؤلفون: Julija Grigaitė, Kamilė Šiaurytė, Eglė Audronytė, Eglė Preikšaitienė, Birutė Burnytė, Erinija Pranckevičienė, Aleksandra Ekkert, Algirdas Utkus, Dalius Jatužis

المصدر: Genes, Vol 12, Iss 12, p 1955 (2021)

مصطلحات موضوعية: HTRA1, heterozygous HTRA1 gene mutation, cerebral small vessel disease, CARASIL, next generation sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/12/1955; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/7581a44f89bd4bb5a45fa3ade91a083b

المؤلفون: A.M. van Eeghen, D. Stemkens, José Ramón Fernández-Fructuoso, A. Maruani, K. Hadzsiev, I.D.C. van Balkom, C.M.W. Gaasterland, M.J. Klein Haneveld, Klea Vyshka, A. Hugon, Norma Alhambra, Britt-Marie Anderlid, Stephanie Andres, Emmelien Aten, Rui Barbosa Guedes, Maria C. Bonaglia, Thomas Bourgeron, Monica Burdeus-Olavarrieta, Maya J. Carbin, Jennifer Cooke, Robert J. Damstra, Irenaeus F.M. de Coo, Stella Di Domenico, D. Gareth Evans, Andreas M. Grabrucker, Cecilia Gunnarson, Kinga Hadzsiev, Raoul C. Hennekam, Sarah Jesse, Sarina G. Kant, Sylvia A. Koza, Els Kuiper, Annemiek M. Landlust, Pablo Lapunzina, Eva Loth, Sahar Mansour, Anna Maruani, Teresa Mattina, Aušra Matulevičienė, Julián Nevado, Susanne Parker, Sandra Robert, Carlo Sala, Antonia San José Cáceres, Michael Schön, Kamilė Šiaurytė, Daphne Stemkens, Dominique Stiefsohn, Ann Swillen, Anne C. Tabet, Roberto Toro, Alison Turner, Ingrid D.C. van Balkom, Griet van Buggenhout, Agnies M. van Eeghen, Conny M.A. van Ravenswaaij-Arts, Sabrina van Weering, Chiara Verpelli, Stephane Vignes, Annick Vogels, Margreet Walinga

المصدر: European Journal of Medical Genetics. 66:104747

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2c4a852d2d5f8c4b560f022c9345f9ac
https://doi.org/10.1016/j.ejmg.2023.104747

المؤلفون: Violeta Mikštienė, Eglė Preikšaitienė, Dovilė Kriaučiūnienė, Loreta Cimbalistienė, Aušra Matulevičienė, Kamilė Šiaurytė, Gunda Petraitytė, Algirdas Utkus

المصدر: BMC Endocrine Disorders
BMC endocrine disorders, London : BMC, 2021, vol. 21, art. no. 71, p. [1-6]
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Acrodysostosis, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Intellectual disability, Case Report, 030105 genetics & heredity, Osteochondrodysplasias, PDE4D, Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, symbols.namesake, Medicine, Missense mutation, Humans, PRKAR1A, Gene, Sanger sequencing, Genetics, Base Sequence, business.industry, ACRDYS2, Skeletal abnormalities, Case report, Dysostoses, Genetic Variation, Lithuania, General Medicine, RC648-665, medicine.disease, Phenotype, Cyclic Nucleotide Phosphodiesterases, Type 4, 030104 developmental biology, PDE4D Gene, Dysplasia, symbols, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c7019e71f1773d4fac750f5e0174c77
https://pubmed.ncbi.nlm.nih.gov/33858404