المؤلفون: Tamer H. A. Ammar, Ghada M. M. Al-Ettribi, Maha M. A. Abo Hashish, Tarek M. Farid, Amany A. Abou-Elalla, Manal M. Thomas

المصدر: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Growth hormone deficiency, GH1 gene, GHRHR gene, GHSR gene, Sanger sequencing analysis, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/01d1f1e2a2af4e4bb3cc973b6968234b

المؤلفون: Arman, A., Dündar, B.N., Çetinkaya, E., Erzaim, N., Büyükgebiz, A.

المساهمون: Arman, A., Dündar, B.N., Çetinkaya, E., Erzaim, N., Büyükgebiz, A., Yeditepe Üniversitesi

مصطلحات موضوعية: GHRHR gene, IGHD, Short stature

Relation: JCRPE Journal of Clinical Research in Pediatric Endocrinology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; PubMed ID: 25541890; 202; 208; https://hdl.handle.net/20.500.11831/4204

الاتاحة: https://hdl.handle.net/20.500.11831/4204

المؤلفون: ARMAN, AHMET

المساهمون: Arman, Ahmet, Dundar, Bumin Nuri, Cetinkaya, Ergun, Erzaim, Nilufer, Buyukgebiz, Atilla

مصطلحات موضوعية: IGHD, GHRHR gene, short stature, ISOLATED GH DEFICIENCY, SPLICE MUTATION, PREVALENCE, POLYMORPHISM, GENERATION, SECRETION, DWARFISM, SIBLINGS

وصف الملف: application/pdf

Relation: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY; https://hdl.handle.net/11424/245783; WOS:000347785700002

الاتاحة: https://hdl.handle.net/11424/245783
https://doi.org/10.4274/jcrpe.1518

المؤلفون: Bumin Dündar, Ahmet Arman, Ergun Cetinkaya, Atilla Büyükgebiz, Nilufer Erzaim

المساهمون: Arman, Ahmet, Dundar, Bumin Nuri, Cetinkaya, Ergun, Erzaim, Nilufer, Buyukgebiz, Atilla, Arman, A., Dündar, B.N., Çetinkaya, E., Erzaim, N., Büyükgebiz, A., Yeditepe Üniversitesi

المصدر: Journal of Clinical Research in Pediatric Endocrinology

مصطلحات موضوعية: Male, Receptors, Neuropeptide, medicine.medical_specialty, Turkish population, Turkey, Growth-hormone-releasing hormone receptor, Endocrinology, Diabetes and Metabolism, Population, Mutation, Missense, SPLICE MUTATION, GHRHR GENE, Biology, Gene mutation, medicine.disease_cause, Short stature, ISOLATED GH DEFICIENCY, Endocrinology, Receptors, Pituitary Hormone-Regulating Hormone, Internal medicine, medicine, IGHD, Humans, Missense mutation, GHRHR gene, Child, Dwarfism, Pituitary, education, Genetics, Mutation, education.field_of_study, DWARFISM, Exons, POLYMORPHISM, PREVALENCE, short stature, SIBLINGS, Mutagenesis, Insertional, Pediatrics, Perinatology and Child Health, SECRETION, Female, Original Article, medicine.symptom, GENERATION

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::103d41007eb68e84badd996fa96f71d5
https://aperta.ulakbim.gov.tr/record/62121

المؤلفون: Diana Monica Warman, Eduardo Chaler, Mercedes Maceiras, Roxana Marino, Pablo Ramírez, Isabel Di Palma, Alicia Belgorosky, Matias Juanes, Marta Ciaccio, Valeria De Dona, Marco A. Rivarola

المصدر: Clinical endocrinology. 80(4)

مصطلحات موضوعية: Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Argentina, Dwarfism, Biology, medicine.disease_cause, Short stature, Endocrinology, Isolated GH Deficiency, Internal medicine, medicine, Humans, Dwarfism, Pituitary, Receptors, Ghrelin, Genetics, Mutation, Human Growth Hormone, Amino acid substitution, medicine.disease, Large cohort, Amino Acid Substitution, Isolated growth hormone deficiency, Female, medicine.symptom, GHRHR gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48b4640ba445a8dbf52eb77c9f26ca8e
https://pubmed.ncbi.nlm.nih.gov/23789946

المؤلفون: Juanes, Matías Hernan, Marino, Roxana, Ciaccio, Marta, Di Palma, Isabel, Ramirez, Pablo, Warman, Diana M., de Dona, Valeria, Chaler, Eduardo, Maceiras, Mercedes, Rivarola, Marco Aurelio, Belgorosky, Alicia

مصطلحات موضوعية: GH and GHRHR gene mutations, CIENCIAS MÉDICAS Y DE LA SALUD, genetic disease, Endocrinología y Metabolismo, Medicina Clínica, Isolated growth hormone deficiency

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3498::d93960ea9a6310e9967ad661439fd5f9
http://onlinelibrary.wiley.com/doi/10.1111/cen.12267/abstract

المؤلفون: Juanes, Matías Hernan, Marino, Roxana, Ciaccio, Marta, Di Palma, Isabel, Ramirez, Pablo, Warman, Diana M., de Dona, Valeria, Chaler, Eduardo, Maceiras, Mercedes, Rivarola, Marco Aurelio, Belgorosky, Alicia

مصطلحات موضوعية: Gh And Ghrhr Gene Mutations, Isolated Growth Hormone Deficiency, Genetic Disease, https://purl.org/becyt/ford/3.2, https://purl.org/becyt/ford/3

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/url/http://dx.doi.org/DOI:10.1111/cen.12267; info:eu-repo/semantics/altIdentifier/issn/0300-0664; http://hdl.handle.net/11336/3721; Juanes, Matías Hernan; Marino, Roxana; Ciaccio, Marta; Di Palma, Isabel; Ramirez, Pablo; et al.; Presence of GH1 and absence of GHRHR gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency; Wiley; Clinical Endocrinology; 80; 4; 3-2013; 618-620

الاتاحة: http://hdl.handle.net/11336/3721