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: Imen Rejeb, Mouna Jerbi, Houweyda Jilani, Hanène Gaied, Yasmina Elaribi, Syrine Hizem, Raja Aoudia, Hafedh Hedri, Chiraz Zaied, Salwa Abid, Hassen Bacha, Taieb BenAbdallah, Lamia BenJemaa, Rim Goucha

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Karyomegalic interstitial nephritis, Chronic tubulointerstitial nephritis, FAN1 gene, Frameshift variants, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/d2abc6e399d04ca896b1686c49138e7dTest

المؤلفون: Jiasun Su, Weiliang Lu, Mengting Li, Qiang Zhang, Fei Chen, Shang Yi, Qi Yang, Sheng Yi, Xunzhao Zhou, Limei Huang, Yiping Shen, Jingsi Luo, Zailong Qin

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)

مصطلحات موضوعية: compound heterozygous frameshift variants, congenital hydrocephalus 3 with brain anomalies, prenatal, WDR81, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/c7e3d389313f4acf9cf8e2aaaf58ddddTest

المؤلفون: Caddeo A., Mancina R. M., Pirazzi C., Russo C., Sasidharan K., Sandstedt J., Maurotti S., Montalcini T., Pujia A., Leren T. P., Romeo S., Pingitore P.

المساهمون: Caddeo, A., Mancina, R. M., Pirazzi, C., Russo, C., Sasidharan, K., Sandstedt, J., Maurotti, S., Montalcini, T., Pujia, A., Leren, T. P., Romeo, S., Pingitore, P.

مصطلحات موضوعية: Familial chylomicronemia syndrome, Familial hypertriglyceridemia, Familial lipoprotein lipase deficiency, LPL, Missense and frameshift variants, Adult, Aged, Female, Genetic Predisposition to Disease, HEK293 Cells, Heterozygote, Homozygote, Humans, Hyperlipoproteinemia Type I, Hypertriglyceridemia, Lipids, Lipoprotein Lipase, Male, Middle Aged, Pancreatitis, Phenotype, Recurrence, Transfection, Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29288010; info:eu-repo/semantics/altIdentifier/wos/WOS:000425374700008; volume:28; issue:2; firstpage:158; lastpage:164; numberofpages:7; journal:NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES; https://hdl.handle.net/11584/333764Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85039147012

الإتاحة: https://doi.org/10.1016/j.numecd.2017.11.003Test
https://hdl.handle.net/11584/333764Test

المؤلفون: Yiping Shen, Weiliang Lu, Mengting Li, Shang Yi, Zailong Qin, Limei Huang, Sheng Yi, Qi Yang, Xunzhao Zhou, Fei Chen, Jingsi Luo, Jiasun Su, Qiang Zhang

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)

مصطلحات موضوعية: 0301 basic medicine, Adult, Pathology, medicine.medical_specialty, Heterozygote, prenatal, Nerve Tissue Proteins, QH426-470, 030105 genetics & heredity, Compound heterozygosity, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Pregnancy, congenital hydrocephalus 3 with brain anomalies, Hydrops fetalis, Prenatal Diagnosis, Genetics, Medicine, Humans, Frameshift Mutation, Molecular Biology, Cerebellar hypoplasia, Genetics (clinical), Sanger sequencing, Whole Genome Sequencing, business.industry, Molecular pathology, Brain, Original Articles, medicine.disease, WDR81, Hydrocephalus, 030104 developmental biology, symbols, Medical genetics, Female, Original Article, compound heterozygous frameshift variants, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf77858be37a01e79e16966c7ad885faTest
https://pubmed.ncbi.nlm.nih.gov/33724704Test

المؤلفون: Lamia BenJemaa, Syrine Hizem, Salwa Abid, Hassen Bacha, Imen Rejeb, Chiraz Zaied, Houweyda Jilani, Taieb Benabdallah, Raja Aoudia, Yasmina Elaribi, Hafedh Hedri, Hanene Gaied, Rim Goucha, Mouna Jerbi

المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Interstitial nephritis, 030232 urology & nephrology, Genomics, QH426-470, Biology, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Coding region, Internal medicine, Gene, Genetics (clinical), FAN1 gene, Chronic tubulointerstitial nephritis, FAN1, Karyomegalic interstitial nephritis, medicine.disease, RC31-1245, Human genetics, 030104 developmental biology, Medical genetics, Nephritis, Interstitial, Frameshift variants, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d3ff19070a12b9e0b7baa048dd480b0Test
https://pubmed.ncbi.nlm.nih.gov/34126972Test

المؤلفون: Mirella Filocamo, Giuseppe De Michele, Chiara Fiorillo, Teresa De Toni, Silvio Peluso, Susanna Lualdi, Claudio Bruno, Mariasavina Severino, Andrea Rossi, Pasquale Striano

المساهمون: Severino, Mariasavina, Lualdi, Susanna, Fiorillo, Chiara, Striano, Pasquale, De Toni, Teresa, Peluso, Silvio, De Michele, Giuseppe, Rossi, Andrea, Filocamo, Mirella, Bruno, Claudio

المصدر: Journal of Neurology. 265:1419-1425

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Kir4.1, Astrocytopathy, Brain MRI, Channelopathy, Diffusion-weighted imaging, EAST syndrome, Frameshift variants, Intramyelinic edema, KCNJ10, SeSAME syndrome, Whole exome sequencing, Neurology, Neurology (clinical), Epilepsy, Frameshift variant, 0302 clinical medicine, Medicine, Frameshift Mutation, biology, Brain, White Matter, medicine.anatomical_structure, Spinal Cord, Disease Progression, Cerebellar atrophy, Brainstem, medicine.symptom, Adult, medicine.medical_specialty, Ataxia, Hearing Loss, Sensorineural, White matter, Young Adult, 03 medical and health sciences, Seizures, Intellectual Disability, Humans, Potassium Channels, Inwardly Rectifying, business.industry, Spinal cord, medicine.disease, 030104 developmental biology, biology.protein, Atrophy, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::969076846fc93dd10febefa48fb3a7ebTest
https://doi.org/10.1007/s00415-018-8826-7Test

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