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1دورية أكاديمية
المؤلفون: Diana M. Cornejo-Sanchez, Anushree Acharya, Thashi Bharadwaj, Lizeth Marin-Gomez, Pilar Pereira-Gomez, Liz M. Nouel-Saied, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Heather C. Mefford, Isabelle Schrauwen, Jaime Carrizosa-Moog, William Cornejo-Ochoa, Nicolas Pineda-Trujillo, Suzanne M. Leal
المصدر: Genes, Vol 13, Iss 5, p 754 (2022)
مصطلحات موضوعية: epilepsy, GEFS+, SCN1A, incomplete penetrance, autosomal dominant, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Khurram Liaqat, Shabir Hussain, Anushree Acharya, Abdul Nasir, Thashi Bharadwaj, Muhammad Ansar, Sulman Basit, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
المصدر: Genes, Vol 13, Iss 4, p 662 (2022)
مصطلحات موضوعية: atypical Gaucher disease, hearing impairment, exome sequencing, saposin C, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Noluthando Manyisa, Isabelle Schrauwen, Leonardo Alves de Souza Rios, Shaheen Mowla, Cedrik Tekendo-Ngongang, Kalinka Popel, Kevin Esoh, Thashi Bharadwaj, Liz M. Nouel-Saied, Anushree Acharya, Abdul Nasir, Edmond Wonkam-Tingang, Carmen de Kock, Collet Dandara, Suzanne M. Leal, Ambroise Wonkam
المصدر: Genes, Vol 12, Iss 11, p 1765 (2021)
مصطلحات موضوعية: REST, RE1-silencing transcription factor, non-syndromic hearing impairment, South Africa, Africa, DFNA27, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Nadia Farooqi, Louise A. Metherell, Isabelle Schrauwen, Anushree Acharya, Qayum Khan, Liz M. Nouel Saied, Yasir Ali, Hamed A. El-Serehy, Fazal Jalil, Suzanne M. Leal
المصدر: Genes, Vol 12, Iss 12, p 1915 (2021)
مصطلحات موضوعية: cardiovascular diseases, dilated cardiomyopathy, Marfan syndrome, left ventricular diastolic dysfunction, whole exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Zhiying Xie, Liuqin Tang, Zhihao Xie, Chengyue Sun, Haoyue Shuai, Chao Zhou, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Wei Zhang, Suzanne M. Leal, Zhaoxia Wang, Isabelle Schrauwen, Yun Yuan
المصدر: Genes, Vol 11, Iss 10, p 1180 (2020)
مصطلحات موضوعية: pseudoexon, canonical exon, splicing characteristics, DMD, intronic variants, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Edmond Wonkam-Tingang, Isabelle Schrauwen, Kevin K. Esoh, Thashi Bharadwaj, Liz M. Nouel-Saied, Anushree Acharya, Abdul Nasir, Samuel M. Adadey, Shaheen Mowla, Suzanne M. Leal, Ambroise Wonkam
المصدر: Genes, Vol 11, Iss 11, p 1249 (2020)
مصطلحات موضوعية: non-syndromic hearing impairment, CLIC5, Africa, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Isabelle Schrauwen, Khurram Liaqat, Isabelle Schatteman, Thashi Bharadwaj, Abdul Nasir, Anushree Acharya, Wasim Ahmad, Guy Van Camp, Suzanne M. Leal
المصدر: Genes, Vol 11, Iss 6, p 687 (2020)
مصطلحات موضوعية: autosomal dominant inheritance, exome sequencing, GREB1L, profound nonsyndromic hearing impairment, cochlear aplasia, cochlear nerve aplasia, Genetics, QH426-470
وصف الملف: electronic resource
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8
المؤلفون: Meng Yu, Haoyue Shuai, Zhaoxia Wang, Wei Zhang, Liuqin Tang, Yiming Zheng, Zhiying Xie, Chengyue Sun, Lingchao Meng, Chao Zhou, Zhihao Xie, Yun Yuan, Yilin Liu, Isabelle Schrauwen, Suzanne M. Leal
المصدر: Genes, Vol 11, Iss 1180, p 1180 (2020)
Genes
Volume 11
Issue 10مصطلحات موضوعية: 0301 basic medicine, Male, musculoskeletal diseases, 2019-20 coronavirus outbreak, congenital, hereditary, and neonatal diseases and abnormalities, pseudoexon, lcsh:QH426-470, RNA Splicing, DMD, Regulatory Sequences, Nucleic Acid, intronic variants, Article, Dystrophin, 03 medical and health sciences, Exon, 0302 clinical medicine, Genetics, Humans, RNA, Messenger, Enhancer, Genetics (clinical), biology, Exons, Splicing regulatory element, musculoskeletal system, Dystrophin gene, canonical exon, Introns, Muscular Dystrophy, Duchenne, lcsh:Genetics, 030104 developmental biology, Dmd gene, Child, Preschool, RNA splicing, Mutation, biology.protein, human activities, splicing characteristics, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32b5cc395e6be913225f96f2ea108be5Test
https://www.mdpi.com/2073-4425/11/10/1180Test -
9
المؤلفون: Suzanne M. Leal, Anushree Acharya, Kevin K Esoh, Shaheen Mowla, Edmond Wonkam-Tingang, Liz M Nouel-Saied, Thashi Bharadwaj, Ambroise Wonkam, Samuel Mawuli Adadey, Isabelle Schrauwen, Abdul Nasir
المساهمون: Division of Human Genetics, Faculty of Health Sciences
المصدر: Genes, Vol 11, Iss 1249, p 1249 (2020)
Genes
Volume 11
Issue 11مصطلحات موضوعية: 0301 basic medicine, Genetics, Sanger sequencing, dbSNP, CLIC5, lcsh:QH426-470, 030105 genetics & heredity, Biology, Compound heterozygosity, 03 medical and health sciences, symbols.namesake, lcsh:Genetics, 030104 developmental biology, RNA splicing, Africa, symbols, Missense mutation, Allele, Gene, Genetics (clinical), Exome sequencing, non-syndromic hearing impairment
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f35a5234669c101e930df1be6e13774Test
https://www.mdpi.com/2073-4425/11/11/1249Test -
10
المؤلفون: Anushree Acharya, Liz M Nouel-Saied, Collet Dandara, Cedrik Tekendo-Ngongang, Shaheen Mowla, Suzanne M. Leal, Noluthando Manyisa, Kevin K Esoh, Isabelle Schrauwen, Ambroise Wonkam, Leonardo Alves de Souza Rios, Kalinka Popel, Carmen de Kock, Abdul Nasir, Edmond Wonkam-Tingang, Thashi Bharadwaj
المساهمون: Department of Medicine, Faculty of Health Sciences
المصدر: Genes
Volume 12
Issue 11
Genes, Vol 12, Iss 1765, p 1765 (2021)مصطلحات موضوعية: Proband, Sanger sequencing, Genetics, Mutation, Mutant, Wild type, REST, RE1-silencing transcription factor, QH426-470, Biology, medicine.disease_cause, South Africa, symbols.namesake, Mutant protein, Africa, medicine, biology.protein, symbols, DFNA27, Genetics (clinical), Rest (music), non-syndromic hearing impairment
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a54dffa2807495b5b2f02098435ba7cTest
https://doi.org/10.3390/genes12111765Test