المؤلفون: Padeira, G, Cavaco, BM, Virella, D, Sá-Couto, H, Lopes, ML

مصطلحات موضوعية: Genetic Diseases, Inborn, Hypercalcemia/diagnosis, Hypercalcemia/genetics, Hyperparathyroidism/diagnosis, Hyperparathyroidism/ genetics, Parathyroid Hormone, Receptors, Calcium- Sensing/genetics, Treatment Outcome, HDE UCI NEO, HDE END PED, HDE CIR PED

Relation: Port J Pediatr 2022;53:440-6; http://hdl.handle.net/10400.17/4281

الاتاحة: http://hdl.handle.net/10400.17/4281

المؤلفون: Frederiksen, Anja, Rossing, Maria, Hermann, Pernille, Ejersted, Charlotte, Thakker, Rajesh V., Frost, Morten

المصدر: Frederiksen , A , Rossing , M , Hermann , P , Ejersted , C , Thakker , R V & Frost , M 2019 , ' Clinical Features of Multiple Endocrine Neoplasia Type 4 : Novel Pathogenic Variant and Review of Published Cases ' , The Journal of Clinical Endocrinology & Metabolism , vol. 104 , no. 9 , pp. 3637-3646 . https://doi.org/10.1210/jc.2019-00082

مصطلحات موضوعية: Biomarkers/analysis, Cyclin-Dependent Kinase Inhibitor p27/genetics, Female, Humans, Hypercalcemia/genetics, Hyperparathyroidism, Primary/genetics, Loss of Heterozygosity, Male, Middle Aged, Multiple Endocrine Neoplasia/genetics, Mutation, Neuroendocrine Tumors/genetics, Pedigree, Pituitary Neoplasms/genetics, Prognosis

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/eee17987-db65-4c16-bb52-1c7b86d955bf
https://doi.org/10.1210/jc.2019-00082
https://findresearcher.sdu.dk/ws/files/153078052/Clinical_Features_of_Multiple_Endocrine_Neoplasia_Type_4.pdf

المؤلفون: Gonçalo Padeira, Branca M. Cavaco, Daniel Virella, Henrique Sá Couto, Maria de Lurdes Afonso-Lopes

المصدر: Portuguese Journal of Pediatrics; Vol. 53 No. 1 (2022)
Portuguese Journal of Pediatrics; Vol. 53 N.º 1 (2022)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Portuguese Journal of Pediatrics, Vol 53, Iss 1 (2022)

مصطلحات موضوعية: Medicine (General), Genetic Diseases, Inborn, Hypercalcemia/genetics, Hyperparathyroidism/diagnosis, Pediatrics, RJ1-570, HDE UCI NEO, R5-920, Treatment Outcome, HDE END PED, HDE CIR PED, Hyperparathyroidism/ genetics, Parathyroid Hormone, Hypercalcemia/diagnosis, Receptors, Calcium- Sensing/genetics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4bbdddc4c679909a4a730bb430a4a5f
https://hdl.handle.net/10400.17/4281

المؤلفون: Friis, I M, Larsen, N E, Lillquist, K, Schwarz, P

المصدر: Ugeskrift for Laeger. 162(33):4402

المؤلفون: Gjestvang, F T, Olsson, S, Sundöy, A, Schjöth, A, Haug, E

المصدر: Tidsskrift for Den Norske Laegeforening. 112(4):476

المؤلفون: Nilsson, O, Toss, G

المصدر: Läkartidningen. 81(41):3714

المؤلفون: Livadariu, Elena, Auriemma, Renata S, Rydlewski, C., Vandeva, Silvia, Hamoir, E, Burlacu, Maria C, Maweja, Sylvie, Thonnard, Anne S, Betea, Daniela, Vassart, Gilbert, Daly, Adrian F, Beckers, A

المصدر: European journal of endocrinology, 165 (2

مصطلحات موضوعية: Sciences biomédicales, Adolescent, Calcium -- metabolism, DNA Mutational Analysis, Female, Homeostasis -- genetics -- physiology, Humans, Hypercalcemia -- genetics, Hypocalcemia -- genetics, Male, Middle Aged, Mutation -- physiology, Pedigree, Receptors, Calcium-Sensing -- genetics, Siblings

وصف الملف: 1 full-text file(s): application/pdf

Relation: uri/info:doi/10.1530/EJE-11-0121; uri/info:pii/EJE-11-0121; uri/info:pmid/21566074; uri/info:scp/79960158115; https://dipot.ulb.ac.be/dspace/bitstream/2013/124768/3/doi_106188.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/124768

الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/124768
https://dipot.ulb.ac.be/dspace/bitstream/2013/124768/3/doi_106188.pdf

المؤلفون: Ma, RCW, So, WY, Tong, PCY, Cockram, CS, Chow, CC, Lam, CW

مصطلحات موضوعية: Aged, 80 And Over, Female, Frameshift Mutation, Humans, Hypercalcemia - Genetics, Hyperparathyroidism - Genetics, Receptors, Calcium-Sensing - Genetics

Relation: Hong Kong Medical Journal; http://www.scopus.com/mlt/select.url?eid=2-s2.0-48749109441&selection=ref&src=s&origin=recordpage; Hong Kong Medical Journal, 2008, v. 14 n. 3, p. 226-228; 228; eid_2-s2.0-48749109441; 226; http://hdl.handle.net/10722/148573; 14

الاتاحة: http://hdl.handle.net/10722/148573

المؤلفون: Poon, PMK, Lam, CW, Lee, KF, Tong, SF, Chan, AOK, Law, TY

مصطلحات موضوعية: Asian Continental Ancestry Group, Dna Mutational Analysis - Methods, Family Health, Female, Heterozygote, Humans, Hypercalcemia - Genetics, Middle Aged, Mutation, Missense, Pedigree, Receptors, Calcium-Sensing - Chemistry - Genetics

Relation: Clinica Chimica Acta; http://www.scopus.com/mlt/select.url?eid=2-s2.0-24044521944&selection=ref&src=s&origin=recordpage; Clinica Chimica Acta, 2005, v. 360 n. 1-2, p. 167-172; 172; WOS:000232682200021; 1-2; eid_2-s2.0-24044521944; 167; http://hdl.handle.net/10722/148424; 360

الاتاحة: https://doi.org/10.1016/j.cccn.2005.04.026
http://hdl.handle.net/10722/148424

المؤلفون: Engkjaer Christensen, S, Nissen, P H, Schwarz, P

المصدر: Ugeskrift for Laeger. 167(8):905

المؤلفون: Tfelt-Hansen, J, Schwarz, P

المصدر: Ugeskrift for Laeger. 165(22):2283