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1دورية أكاديمية
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
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2دورية أكاديمية
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
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 -
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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 -
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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
مصطلحات موضوعية: Male, Adolescent, Amelogenesis Imperfecta, Case Report, Osteochondrodysplasias, Pedigree, whole exome sequencing, LTBP3, stomatognathic diseases, Consanguinity, Phenotype, Rare Diseases, Latent TGF-beta Binding Proteins, Peru, Exome Sequencing, brachyolmia, Humans
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b9ffe96533f21e27f9441aab97771aa7Test
https://pubmed.ncbi.nlm.nih.gov/34573388Test -
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المؤلفون: Satoshi Narumi, Eri Suzuki, Hiroyuki Shinohara, Yukihiro Hasegawa, Masaki Takagi, Mika Shimizu, Gen Nishimura, Tomonobu Hasegawa
المصدر: American Journal of Medical Genetics Part A. 170:795-798
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, DNA Mutational Analysis, Biology, Osteochondrodysplasias, Bone and Bones, 03 medical and health sciences, Genetics, Humans, Exome, Allele, Codon, Collagen Type II, Gene, Alleles, Genetics (clinical), Exome sequencing, Genes, Dominant, Epiphyseal dysplasia, High-Throughput Nucleotide Sequencing, Autosomal dominant brachyolmia, 030104 developmental biology, Amino Acid Substitution, Mutation, Mutation (genetic algorithm)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d00effb72e5b10b549be27b072b3cd7Test
https://doi.org/10.1002/ajmg.a.37481Test -
6دورية أكاديمية
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
العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844023108966Test; https://doaj.org/toc/2405-8440Test; https://doaj.org/article/0f91f966fd7d4676bcf74cad84128e34Test
الإتاحة: https://doi.org/10.1016/j.heliyon.2023.e23688Test
https://doaj.org/article/0f91f966fd7d4676bcf74cad84128e34Test