المؤلفون: Didem Helvacıoğlu, Tülay Güran

المصدر: JCRPE, Vol 16, Iss 1, Pp 4-10 (2024)

مصطلحات موضوعية: papss2, androgen excess, sulfation, brachyolmia, semd, dheas, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-59489Test; https://doaj.org/toc/1308-5727Test; https://doaj.org/toc/1308-5735Test

الوصول الحر: https://doaj.org/article/4ad4f01e7aa044138f97f7d9f79ac8a5Test

المؤلفون: Hamed Nawaz, Asia Parveen, Sher Alam Khan, Abul Khair Zalan, Muhammad Adnan Khan, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Rasha M. Elhossini, Nehal Nabil Roshdy, Asmat Ullah, Amina Arif, Saadullah Khan, Ole Ammerpohl, Naveed Wasif

المصدر: Heliyon, Vol 10, Iss 1, Pp e23688- (2024)

مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844023108966Test; https://doaj.org/toc/2405-8440Test

الوصول الحر: https://doaj.org/article/0f91f966fd7d4676bcf74cad84128e34Test

المؤلفون: Nawaz, Hamed, Parveen, Asia, Khan, Sher Alam, Zalan, Abul Khair, Khan, Muhammad Adnan, Muhammad, Noor, Hassib, Nehal F., Mostafa, Mostafa I., Elhossini, Rasha M., Roshdy, Nehal Nabil, Ullah, Asmat, Arif, Amina, Khan, Saadullah, Ammerpohl, Ole, Wasif, Naveed

المصدر: Nawaz , H , Parveen , A , Khan , S A , Zalan , A K , Khan , M A , Muhammad , N , Hassib , N F , Mostafa , M I , Elhossini , R M , Roshdy , N N , Ullah , A , Arif , A , Khan , S , Ammerpohl , O & Wasif , N 2024 , ' Brachyolmia, dental anomalies and short stature (DASS) : Phenotype and genotype analyses of Egyptian and Pakistani patients ' , Heliyon , vol. 10 , no. 1 , e23688 . https://doi.org/10.1016/j.heliyon.2023.e23688Test

مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, LTBP3

العلاقة: https://pure.au.dk/portal/en/publications/f4b2684e-d017-4f86-b55b-69ef17b224b7Test

الإتاحة: https://doi.org/10.1016/j.heliyon.2023.e23688Test
https://pure.au.dk/portal/en/publications/f4b2684e-d017-4f86-b55b-69ef17b224b7Test
http://www.scopus.com/inward/record.url?scp=85180281967&partnerID=8YFLogxKTest

المؤلفون: Saima Mustafa, Malik Fiaz Hussain, Muhammad Latif, Maryam Ijaz, Muhammad Asif, Mubashir Hassan, Muhammad Faisal, Furhan Iqbal

المصدر: Genes, Vol 13, Iss 11, p 2096 (2022)

مصطلحات موضوعية: brachyolmia, WES, sanger sequencing, Western blot, 3D protein structure, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/13/11/2096Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/5e07a23900d54b888992c7fcc37422ceTest

المؤلفون: Elisabetta Flex, Valentina Imperatore, Giovanna Carpentieri, Alessandro Bruselles, Andrea Ciolfi, Simone Pizzi, Maria Giovanna Tedesco, Daniela Rogaia, Amedea Mencarelli, Giuseppe Di Cara, Alberto Verrotti, Stefania Troiani, Giuseppe Merla, Marco Tartaglia, Paolo Prontera

المصدر: Genes; Volume 12; Issue 9; Pages: 1406

مصطلحات موضوعية: brachyolmia, amelogenesis imperfecta, LTBP3, whole exome sequencing, consanguinity

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12091406Test

الإتاحة: https://doi.org/10.3390/genes12091406Test

المساهمون: College of Medicine, Dept. of Orthopedic Surgery, Yun-Jung Lim, Hye-Ran Lee, Ok-Hwa Kim, Tae-Joon Cho, Kun-Bo Park, Park, Kun Bo

مصطلحات موضوعية: Adolescent, Child, Diagnosis, Differential, Humans, Male, Osteochondrodysplasias/diagnostic imaging, Brachyolmia, Metaphyseal striations, TRPV4

العلاقة: SKELETAL RADIOLOGY; J02660; OAK-2017-04869; https://ir.ymlib.yonsei.ac.kr/handle/22282913/160795Test; https://link.springer.com/article/10.1007%2Fs00256-017-2684-8Test; T201703328; SKELETAL RADIOLOGY, Vol.46(9) : 1297-1300, 2017

الإتاحة: https://doi.org/10.1007/s00256-017-2684-8Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/160795Test

المؤلفون: Simone Pizzi, Daniela Rogaia, Amedea Mencarelli, Giuseppe Merla, Maria Giovanna Tedesco, Valentina Imperatore, Alessandro Bruselles, Elisabetta Flex, Giuseppe Di Cara, Marco Tartaglia, Andrea Ciolfi, Stefania Troiani, Alberto Verrotti, Paolo Prontera, Giovanna Carpentieri

المساهمون: Flex, E., Imperatore, V., Carpentieri, G., Bruselles, A., Ciolfi, A., Pizzi, S., Tedesco, M. G., Rogaia, D., Mencarelli, A., Di Cara, G., Verrotti, A., Troiani, S., Merla, G., Tartaglia, M., Prontera, P.

المصدر: Genes, Vol 12, Iss 1406, p 1406 (2021)

مصطلحات موضوعية: Male, Adolescent, Consanguinity, Biology, QH426-470, whole exome sequencing, Pathogenesis, Genotype-phenotype distinction, consanguinity, Rare Disease, Latent TGF-beta Binding Protein, Peru, medicine, Genetics, Amelogenesis imperfecta, Osteochondrodysplasia, Genetics (clinical), Exome sequencing, Coxa valga, amelogenesis imperfecta, medicine.disease, Pedigree, LTBP3, Hypodontia, stomatognathic diseases, Phenotype, Dysplasia, brachyolmia, medicine.symptom, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1476327de32abd776bcd30df6fe1086Test
https://www.mdpi.com/2073-4425/12/9/1406Test

المؤلفون: Madhulika Kabra, Ishrat Siddiqui, Ravneet Kaur, Neerja Gupta, Vijay Prakash Mathur, Manisha Jana

المصدر: American Journal of Medical Genetics Part A. 182:1944-1946

مصطلحات موضوعية: 0301 basic medicine, Genetics, DASS, 030105 genetics & heredity, Biology, medicine.disease, Short stature, Phenotype, Brachyolmia, 03 medical and health sciences, 030104 developmental biology, Dysplasia, medicine, Amelogenesis imperfecta, medicine.symptom, Gene, Genetics (clinical), Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0f8f7b776919739b86b55b9e22c17765Test
https://doi.org/10.1002/ajmg.a.61629Test

المؤلفون: Flex E., Imperatore V., Carpentieri G., Bruselles A., Ciolfi A., Pizzi S., Tedesco M. G., Rogaia D., Mencarelli A., Di Cara G., Verrotti A., Troiani S., Merla G., Tartaglia M., Prontera P.

المساهمون: Flex, E., Imperatore, V., Carpentieri, G., Bruselles, A., Ciolfi, A., Pizzi, S., Tedesco, M. G., Rogaia, D., Mencarelli, A., Di Cara, G., Verrotti, A., Troiani, S., Merla, G., Tartaglia, M., Prontera, P.

مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Consanguinity, LTBP3, Whole exome sequencing

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34573388; info:eu-repo/semantics/altIdentifier/wos/WOS:000699562400001; volume:12; issue:9; firstpage:1406; journal:GENES; http://hdl.handle.net/11391/1497142Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115204620

الإتاحة: https://doi.org/10.3390/genes12091406Test
http://hdl.handle.net/11391/1497142Test

المؤلفون: Koray Boduroğlu, Gizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Goknur Haliloglu, Ibrahim Oncel, Gülen Eda Utine

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 32

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Turkey, TRPV Cation Channels, Short stature, 03 medical and health sciences, Young Adult, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Child, Bone Diseases, Developmental, Congenital distal spinal muscular atrophy, Genetic heterogeneity, business.industry, Infant, Autosomal dominant brachyolmia, General Medicine, Neuromuscular Diseases, medicine.disease, Peripheral neuropathy, Phenotype, Spondyloepiphyseal dysplasia Maroteaux type, Dysplasia, Child, Preschool, Pediatrics, Perinatology and Child Health, Etiology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e67145dbff2f537f0547a5e9ce2e8507Test
https://pubmed.ncbi.nlm.nih.gov/33774370Test