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1دورية أكاديمية
المؤلفون: Hannaleena Kokkonen, Auli Siren, Tuomo Määttä, Magda Kamila Kadlubowska, Anushree Acharya, Liz M. Nouel‐Saied, Suzanne M. Leal, Irma Järvelä, Isabelle Schrauwen
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
مصطلحات موضوعية: exome sequencing, intellectual disability, microduplication, neurodevelopmental disorders, X‐chromosome, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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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: 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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المؤلفون: Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth E. Blue, Lisa H. Chadwick, Zeynep H. Coban-Akdemir, Kimberly F. Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell-Luria, Marcia Adams, François Aguet, Gulsen Akay, Peter Anderson, Corina Antonescu, Harindra M. Arachchi, Mehmed M. Atik, Christina A. Austin-Tse, Larry Babb, Tamara J. Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilguvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel Calame, Ian M. Campbell, Xiaolong Cao, Claudia Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Ivan K. Chinn, Declan Clarke, Ryan L. Collins, Beryl Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie P. DiTroia, Harshavardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid Fatih, Adam Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay S. Ganesh, Kiran V. Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga-Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif O. Harmanci, Isabella Herman, Kurt Hetrick, Hadia Hijazi, Martha Horike-Pyne, Elvin Hsu, Jianhong Hu, Yongqing Huang, Jameson R. Hurless, Steve Jahl, Gail P. Jarvik, Yunyun Jiang, Eric Johanson, Angad Jolly, Ender Karaca, Michael Khayat, James Knight, J. Thomas Kolar, Sushant Kumar, Seema Lalani, Kristen M. Laricchia, Kathryn E. Larkin, Suzanne M. Leal, Gabrielle Lemire, Richard A. Lewis, He Li, Hua Ling, Rachel B. Lipson, Pengfei Liu, Alysia Kern Lovgren, Francesc López-Giráldez, Melissa P. MacMillan, Brian E. Mangilog, Stacy Mano, Dana Marafi, Beth Marosy, Jamie L. Marshall, Renan Martin, Colby T. Marvin, Michelle Mawhinney, Sean McGee, Daniel J. McGoldrick, Michelle Mehaffey, Betselote Mekonnen, Xiaolu Meng, Tadahiro Mitani, Christina Y. Miyake, David Mohr, Shaine Morris, Thomas E. Mullen, David R. Murdock, Mullai Murugan, Donna M. Muzny, Ben Myers, Juanita Neira, Kevin K. Nguyen, Patrick M. Nielsen, Natalie Nudelman, Emily O’Heir, Melanie C. O’Leary, Chrissie Ongaco, Jordan Orange, Ikeoluwa A. Osei-Owusu, Ingrid S. Paine, Lynn S. Pais, Justin Paschall, Karynne Patterson, Davut Pehlivan, Benjamin Pelle, Samantha Penney, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Cecilia M. Poli, Jaya Punetha, Aparna Radhakrishnan, Matthew A. Richardson, Eliete Rodrigues, Gwendolin T. Roote, Jill A. Rosenfeld, Erica L. Ryke, Aniko Sabo, Alice Sanchez, Isabelle Schrauwen, Daryl A. Scott, Fritz Sedlazeck, Jillian Serrano, Chad A. Shaw, Tameka Shelford, Kathryn M. Shively, Moriel Singer-Berk, Joshua D. Smith, Hana Snow, Grace Snyder, Matthew Solomonson, Rachel G. Son, Xiaofei Song, Pawel Stankiewicz, Taylorlyn Stephan, V. Reid Sutton, Abigail Sveden, Diana Cornejo Sánchez, Monica Tackett, Michael Talkowski, Machiko S. Threlkeld, Grace Tiao, Miriam S. Udler, Laura Vail, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Gao Wang, Lu Wang, Michael F. Wangler, Nicholas A. Watts, Ben Weisburd, Jeffrey M. Weiss, Marsha M. Wheeler, Janson J. White, Clara E. Williamson, Michael W. Wilson, Wojciech Wiszniewski, Marjorie A. Withers, Dane Witmer, Lauren Witzgall, Elizabeth Wohler, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Nan Wu, Jinchuan Xing, Yaping Yang, Qian Yi, Bo Yuan, Jordan E. Zeiger, Chaofan Zhang, Peng Zhang, Yan Zhang, Xiaohong Zhang, Yeting Zhang, Shifa Zhang, Huda Zoghbi, Igna van den Veyver
المصدر: Genet Med
مصطلحات موضوعية: Phenotype, Exome Sequencing, Humans, Exome, Genomics, Article, Genetic Association Studies, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b797c7738329d28c572a5aa99b98ff15Test
https://doi.org/10.1016/j.gim.2021.12.005Test -
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المؤلفون: Thashi Bharadwaj, Anushree Acharya, Khurram Liaqat, Gordon A. Awandare, Kevin K Esoh, Elvis Twumasi Aboagye, Shaheen Mowla, Suzanne M. Leal, Sulman Basit, Isabelle Schrauwen, Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Liz M Nouel-Saied, Wasim Ahmad, Ambroise Wonkam
المصدر: Journal of Human Genetics
مصطلحات موضوعية: Male, Models, Molecular, Genotype, In silico, Biology, Article, Structure-Activity Relationship, 03 medical and health sciences, chemistry.chemical_compound, Exon, 0302 clinical medicine, Exome Sequencing, Genetics, medicine, Humans, Solute Carrier Family 12, Member 2, Genetic Predisposition to Disease, Inner ear, Amino Acid Sequence, Hearing Loss, Gene, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Disease genetics, Genetic heterogeneity, Sequence Analysis, DNA, Pedigree, Phenotype, medicine.anatomical_structure, chemistry, Mutation, Female, Neurological disorders, 030217 neurology & neurosurgery, DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71acd39b4617391a36f199eda43b95ddTest
https://doi.org/10.1038/s10038-021-00954-6Test -
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المؤلفون: Syed Irfan Raza, Muhammad Zeeshan Anwar, Wasim Ahmad, Thashi Bharadwaj, Michael J. Bamshad, Abdul Nasir, Deborah A. Nickerson, Jenna L. Everard, Khurram Liaqat, Suzanne M. Leal, Muhammad Ansar, Isabelle Schrauwen, Anushree Acharya, Muhammad Akram Shahzad Khokhar
المصدر: Journal of Human Genetics
J Hum Genetمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Clinodactyly, Adolescent, endocrine system diseases, Wolfram syndrome, Mutation, Missense, Consanguinity, Deafness, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Bicuspid aortic valve, Bicuspid Aortic Valve Disease, CDC2 Protein Kinase, Genetics, medicine, Diabetes Mellitus, Missense mutation, Humans, Genetic Predisposition to Disease, Child, Hearing Loss, Genetics (clinical), Exome sequencing, business.industry, Homozygote, Infant, Correction, Wolfram Syndrome, medicine.disease, Wolfram-like syndrome, Gastrointestinal Tract, Optic Atrophy, 030104 developmental biology, Genetic linkage study, Child, Preschool, Diabetes insipidus, Female, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7f743556d951fb1805c7b3944e42f8bTest
http://europepmc.org/articles/PMC8472924Test -
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المؤلفون: Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Kevin Esoh, Anushree Acharya, Thashi Bharadwaj, Nicole S. Lin, Lucas Amenga-Etego, Gordon A. Awandare, Isabelle Schrauwen, Suzanne M. Leal, Ambroise Wonkam
المصدر: BMC medical genomics. 15(1)
مصطلحات موضوعية: Adult, Proteins, Ghana, Pedigree, Mice, Exome Sequencing, Mutation, Genetics, Humans, Animals, Exome, Child, Hearing Loss, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::775572e9852e9abeffdb84a21ef4f21fTest
https://pubmed.ncbi.nlm.nih.gov/36357908Test -
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المؤلفون: Ambroise Wonkam, Samuel Mawuli Adadey, Isabelle Schrauwen, Elvis Twumasi Aboagye, Edmond Wonkam-Tingang, Kevin Esoh, Kalinka Popel, Noluthando Manyisa, Mario Jonas, Carmen deKock, Victoria Nembaware, Diana M. Cornejo Sanchez, Thashi Bharadwaj, Abdul Nasir, Jenna L. Everard, Magda K. Kadlubowska, Liz M. Nouel-Saied, Anushree Acharya, Osbourne Quaye, Geoffrey K. Amedofu, Gordon A. Awandare, Suzanne M. Leal
المصدر: Communications Biology. 5
مصطلحات موضوعية: Medicine (miscellaneous), Myosins, Cadherins, Ghana, General Biochemistry, Genetics and Molecular Biology, Mice, MARVEL Domain Containing 2 Protein, Mutation, Exome Sequencing, Animals, Humans, Exome, Hearing Loss, General Agricultural and Biological Sciences
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1830e0ac0034fd987bd6d96c131a5c7Test
https://doi.org/10.1038/s42003-022-03326-8Test -
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المؤلفون: Yvonne G. Weber, Mujaddad Ur Rehman, Massimo Zeviani, Srinitya Gannavarapu, Sirous Zeinali, Sanmati Cuddapah, Zheng Yie Yap, Sukyeong Lee, Javeria Raza Alvi, Adi Reich, Wan Hee Yoon, Isabelle Schrauwen, Tahsin Stefan Barakat, Pasquale Striano, Andrea Legati, Ingo Helbig, Sarah von Spiczak, Vincenzo Salpietro, Henry Houlden, Kolsoum Saeidi, Cholsoon Jang, Mohammad-Sadegh Fallah, Alessia Nasca, Abigail Sandoval, Elham Davoudi-Dehaghani, Karen Vargas Parra, Kshitij Mankad, Stephanie Efthymiou, Anja Wagner, Sunhee Jung, Suzanne M. Leal, Manuela Pendziwiat, Bibi Nazia Murtaza, Daniele Ghezzi, Muhammad Nadeem, Elizabeth J. Bhoj, Costanza Lamperti, Reza Maroofian, Simone Seiffert, Barbara Vona
المساهمون: Clinical Genetics
المصدر: American Journal of Human Genetics, 108(12), 2368-2384. Cell Press
Am J Hum Genetمصطلحات موضوعية: Male, Microcephaly, DNA Mutational Analysis, Compound heterozygosity, Cohort Studies, Exon, Missense mutation, Child, Cells, Cultured, Genetics (clinical), Exome sequencing, Genetics, CRISPR-Cas9 gene editing, Cultured, mitochondria, Drosophila melanogaster, Drosophila, Female, medicine.symptom, Ataxia, Cells, RNA Splicing, Vision Disorders, Biology, bi-allelic, Article, Frameshift mutation, SDG 3 - Good Health and Well-being, medicine, Animals, Humans, Ketoglutarate Dehydrogenase Complex, Allele, developmental and epileptic encephalopathy, Hearing Loss, Alleles, DEE, Family Health, Epilepsy, Fibroblasts, medicine.disease, OGDHL, neurodevelopmental disease, α-ketoglutarate, exome sequencing, Neurodevelopmental Disorders, Mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcf63fb5388350ffc202a476413c2a9eTest
https://pure.eur.nl/en/publications/320792d0-0dbd-4c19-9cf9-be5e9a1535b8Test -
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المؤلفون: Liz M. Nouel Saied, Qayum Khan, Louise A. Metherell, Nadia Farooqi, Hamed A. El-Serehy, Suzanne M. Leal, Anushree Acharya, Fazal Jalil, Yasir Ali, Isabelle Schrauwen
المصدر: Genes
Genes, Vol 12, Iss 1915, p 1915 (2021)
Genes; Volume 12; Issue 12; Pages: 1915مصطلحات موضوعية: Proband, Marfan syndrome, musculoskeletal diseases, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, left ventricular diastolic dysfunction, Adolescent, Fibrillin-1, Diastole, Cardiomyopathy, QH426-470, Article, whole exome sequencing, Marfan Syndrome, symbols.namesake, Ventricular Dysfunction, Left, Internal medicine, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Pakistan, Genetics (clinical), Exome sequencing, Sanger sequencing, business.industry, cardiovascular diseases, dilated cardiomyopathy, Dilated cardiomyopathy, Middle Aged, medicine.disease, Pedigree, Heart failure, Mutation, symbols, Cardiology, Female, business, Cardiomyopathies
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093d2306ad0bd7cc74a6f01ebc9716f8Test
http://europepmc.org/articles/PMC8700962Test