المؤلفون: Ren-Ke Li, Yu-Rong Xiong, Shu-Jing Pan, Wen-Ting Lei, Xiao-Mei Shu, Xiao-Qi Shi, Mao-Qiang Tian

المصدر: Frontiers in Molecular Neuroscience, Vol 17 (2024)

مصطلحات موضوعية: TRAK1 gene, epilepsy, biallelic variant, genotype and phenotype, developmental disorder, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnmol.2024.1342371/fullTest; https://doaj.org/toc/1662-5099Test

الوصول الحر: https://doaj.org/article/39bb82e52fbf41bcaf163f5d5456e924Test

المؤلفون: Ahmed Waqas, Anam Nayab, Shabnam Shaheen, Safdar Abbas, Muhammad Latif, Misbahuddin M. Rafeeq, Ibtesam S. Al-Dhuayan, Amany I. Alqosaibi, Mashael M. Alnamshan, Ziaullah M. Sain, Alaa Hamed Habib, Qamre Alam, Muhammad Umair, Muhammad Arif Nadeem Saqib

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: missense variant, biallelic variant, whole exome sequencing, tRNA methyl transferase, intellectual disability, posttranscriptional modification, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.878274/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/4eb65008b1a94b32b524ac436a44bb96Test

المؤلفون: Wei Long, Fang Guo, Ruen Yao, Ying Wang, Huaiyan Wang, Bin Yu, Peng Xue

المصدر: Frontiers in Endocrinology, Vol 12 (2021)

مصطلحات موضوعية: hypothyroidism, whole-exome sequencing, biallelic variant, oligogenic variant, characteristic, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2021.705773/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/b318f35991134b01bac839da56e3c726Test

المؤلفون: Rui Ban, Zhimei Liu, Masaru Shimura, Xiao Tong, Junling Wang, Lei Yang, Manting Xu, Jing Xiao, Kei Murayama, Matthias Elstner, Holger Prokisch, Fang Fang

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: COA7/RESA1, biallelic variant, COX assembly factor, mitochondrial disease, nervous system disorder, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.685035/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/a7035ac7c1cd482da13f9e89eaf9e380Test

المؤلفون: Ban, R., Liu, Z., Shimura, M., Tong, X., Wang, J., Yang, L., Xu, M., Xiao, J., Murayama, K., Elstner, M., Prokisch, H., Fang, F.

المصدر: Front. Genet. 12:685035 (2021)

مصطلحات موضوعية: Biallelic Variant, Coa7/resa1, Cox Assembly Factor, Mitochondrial Disease, Nervous System Disorder

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34322155; info:eu-repo/semantics/altIdentifier/wos/WOS:000680689500001; info:eu-repo/semantics/altIdentifier/pissn/1664-8021; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62712Test; urn:issn:1664-8021

الإتاحة: https://doi.org/10.3389/fgene.2021.685035Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62712Test

المؤلفون: Pulvirenti, F, Zuntini, R (shared first authorship), Milito, C, Specchia, F, Spadaro, G, Danieli, Mg, Pession, A, Quinti, I, Ferrari, S

المساهمون: Pulvirenti, F, Zuntini, R (shared first authorship), Milito, C, Specchia, F, Spadaro, G, Danieli, Mg, Pession, A, Quinti, I, Ferrari, S

مصطلحات موضوعية: TNFRSF13B, biallelic variant, CVID

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27123465; info:eu-repo/semantics/altIdentifier/wos/WOS:000374068600001; volume:2016; numberofpages:14; journal:JOURNAL OF IMMUNOLOGY RESEARCH; http://hdl.handle.net/11573/901854Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84971435018

الإتاحة: https://doi.org/10.1155/2016/8390356Test
http://hdl.handle.net/11573/901854Test

المؤلفون: Ahmed Waqas, Anam Nayab, Shabnam Shaheen, Safdar Abbas, Muhammad Latif, Misbahuddin M. Rafeeq, Ibtesam S. Al-Dhuayan, Amany I. Alqosaibi, Mashael M. Alnamshan, Ziaullah M. Sain, Alaa Hamed Habib, Qamre Alam, Muhammad Umair, Muhammad Arif Nadeem Saqib

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, missense variant, biallelic variant, whole exome sequencing, tRNA methyl transferase, intellectual disability, posttranscriptional modification

العلاقة: https://figshare.com/articles/dataset/Table1_Case_Report_Biallelic_Variant_in_the_tRNA_Methyltransferase_Domain_of_the_AlkB_Homolog_8_Causes_Syndromic_Intellectual_Disability_XLSX/19671132Test

الإتاحة: https://doi.org/10.3389/fgene.2022.878274.s001Test
https://figshare.com/articles/dataset/Table1_Case_Report_Biallelic_Variant_in_the_tRNA_Methyltransferase_Domain_of_the_AlkB_Homolog_8_Causes_Syndromic_Intellectual_Disability_XLSX/19671132Test

المؤلفون: Ruen Yao, Fang Guo, Wei Long, Huaiyan Wang, Ying Wang, Peng Xue, Bin Yu

المصدر: Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 12 (2021)

مصطلحات موضوعية: Male, medicine.medical_specialty, Goiter, characteristic, Endocrinology, Diabetes and Metabolism, biallelic variant, Levothyroxine, Thyroid dysgenesis, Gastroenterology, Genetic analysis, Diseases of the endocrine glands. Clinical endocrinology, Endocrinology, oligogenic variant, Pregnancy, Internal medicine, Exome Sequencing, Congenital Hypothyroidism, medicine, Humans, Genetic Testing, whole-exome sequencing, Child, Genetic Association Studies, Exome sequencing, Original Research, business.industry, Infant, Newborn, Infant, RC648-665, Prognosis, medicine.disease, Congenital hypothyroidism, Thyroxine, Phenotype, Child, Preschool, Mutation, Cohort, Etiology, Female, hypothyroidism, business, Follow-Up Studies, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2cede8e338ee03168e3eb5cf8887468Test
https://doi.org/10.3389/fendo.2021.705773Test

المؤلفون: Rui, Ban, Zhimei, Liu, Masaru, Shimura, Xiao, Tong, Junling, Wang, Lei, Yang, Manting, Xu, Jing, Xiao, Kei, Murayama, Matthias, Elstner, Holger, Prokisch, Fang, Fang

المصدر: Frontiers in Genetics

مصطلحات موضوعية: COA7/RESA1, mitochondrial disease, COX assembly factor, Genetics, biallelic variant, Original Research, nervous system disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::015d0d0c667b80caa725b80f859252f4Test
https://pubmed.ncbi.nlm.nih.gov/34322155Test

المؤلفون: Wei Long (411482), Fang Guo (105824), Ruen Yao (4387600), Ying Wang (11406), Huaiyan Wang (7302883), Bin Yu (14464), Peng Xue (219948)

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, hypothyroidism, whole-exome sequencing, biallelic variant, oligogenic variant, characteristic

العلاقة: https://figshare.com/articles/dataset/DataSheet_1_Genetic_and_Phenotypic_Characteristics_of_Congenital_Hypothyroidism_in_a_Chinese_Cohort_xlsx/16565676Test

الإتاحة: https://doi.org/10.3389/fendo.2021.705773.s001Test