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 Genet

مصطلحات 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

المؤلفون: Yiming Zheng, Chengyue Sun, Yilin Liu, Siwen Zhang, Meng Yu, Zhiying Xie, Yun Yuan, Gao Wang, Lingchao Meng, Wei Zhang, Isabelle Schrauwen, Suzanne M. Leal, Anushree Acharya, Diana M Cornejo-Sanchez, Zhaoxia Wang

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2041-2046 (2020)

مصطلحات موضوعية: 0301 basic medicine, Male, Neurosciences. Biological psychiatry. Neuropsychiatry, Computational biology, Brief Communication, Genome, Dystrophin, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, RNA, Messenger, RC346-429, Genetic testing, Whole genome sequencing, medicine.diagnostic_test, biology, Whole Genome Sequencing, business.industry, Genome, Human, General Neuroscience, Muscular Dystrophy, Duchenne, 030104 developmental biology, Dmd gene, Mutation, biology.protein, Neurology. Diseases of the nervous system, Neurology (clinical), business, Genetic diagnosis, Brief Communications, 030217 neurology & neurosurgery, RC321-571

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33bde88ac4e8c3974ead51760ea0f63fTest
http://europepmc.org/articles/PMC7545597Test

المؤلفون: Charles E. Robertson, Alessandra Nadine E. Chiong, Michèle M. Sale, Nanette R. Lee, Kimberly Mae C. Ong, Sairah Yousaf, Jose Pedrito M. Magno, Diana Ir, Patrick John Labra, Petri S. Mattila, Maria Luz San Agustin, Generoso T. Abes, Erasmo Gonzalo D V Llanes, Ma. Carmina Espiritu-Chiong, Maria Rina T. Reyes-Quintos, Tori C. Bootpetch, Wasyl Szeremeta, Allen F. Ryan, Teresa Luisa G. Cruz, Arnaud P. J. Giese, Suzanne M. Leal, Rachelle Marie A. Nonato, Zubair M. Ahmed, Abner L. Chan, Karen L. Mohlke, Rhodieleen Anne R. de la Cruz, Regie Lyn P. Santos-Cortez, Matthew J. Steritz, Tasnee Chonmaitree, Daniel N. Frank, Eva Maria Cutiongco-de la Paz, Melquiadesa Pedro, Elisabet Einarsdottir, Talitha Karisse L. Yarza, Juha Kere, Deborah A. Nickerson, Lena Hafrén, Niaz Ahankoob, Michael J. Bamshad, Kathleen Daly, Ma. Leah C. Tantoco, Charlotte M. Chiong, Harold S. Pine, Saima Riazuddin

المصدر: Journal of Medical Genetics. 58:442-452

مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Cholesteatoma, Biology, medicine.disease, A2ML1, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Otitis, 030220 oncology & carcinogenesis, Immunology, Genetics, Outer ear, medicine, symbols, Middle ear, Microbiome, medicine.symptom, Exome, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4c1f3273286a54b911b866b3c1c6e874Test
https://doi.org/10.1136/jmedgenet-2020-106844Test

المؤلفون: Linhai Zhao, Richard Mayeux, Di Zhang, Gao Wang, Badri N. Vardarajan, Suzanne M. Leal, Zongxiao He, Alan E. Renton, Michael Nothnagel, Alison Goate

المصدر: The American Journal of Human Genetics. 105:822-835

مصطلحات موضوعية: Male, 0301 basic medicine, Genetic Linkage, SORL1, Population, Pedigree chart, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, Alzheimer Disease, Locus heterogeneity, Genetics, medicine, Humans, Allele, education, Genetics (clinical), Genetic association, Linkage (software), education.field_of_study, Whole Genome Sequencing, Family aggregation, medicine.disease, Pedigree, 030104 developmental biology, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4bbf81511a18e7b468fd1b8cac8f0e0Test
https://doi.org/10.1016/j.ajhg.2019.09.006Test

المؤلفون: Ingrid M. Wentzensen, Patrick Dunn, Caleb Heid, Esperanza Font-Montgomery, Anna Chassevent, Solveig Heide, Vinod K. Misra, Leandra Folk, Wendy K. Chung, Alexandra Afenjar, Sandra Whalen, Suzanne M. Leal, Thomas Smol, Erin Torti, Kathleen Brown, Isabelle Schrauwen, Anushree Acharya, Magali Barth, Mayada Helal, Mélanie Rama, Thomas Courtin, Irma Järvelä, Maura R.Z. Ruzhnikov, Farouq Thabet, Boris Keren, Haluk Kavus, Kara Withrow, J. Austin Hamm, Elizabeth A. Normand, Mitch Cunningham, Constance Smith-Hicks, Camille Fallot, Fanggeng Zou, Abdul Nasir, Donald R. Love, Alban Ziegler

المساهمون: Columbia University Medical Center (CUMC), Columbia University [New York], The George Washington University (GW), University of Agriculture Faisalabad - UAF (PAKISTAN), GeneDx [Gaithersburg, MD, USA], Stanford University, CHU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut de génétique médicale, University of Colorado Anschutz [Aurora], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Kennedy Krieger Institute [Baltimore], Johns Hopkins University School of Medicine [Baltimore], CHU Pitié-Salpêtrière [AP-HP], University of Missouri [Columbia] (Mizzou), University of Missouri System, Sidra Medicine [Doha, Qatar], Children's Hospital of Michigan, Central Michigan University (CMU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, 2021, 59 (7), pp.669-677. ⟨10.1136/jmedgenet-2021-107871⟩

مصطلحات موضوعية: 0301 basic medicine, INTELLECTUAL DISABILITY, GENES, GENETICS, phenotype, [SDV]Life Sciences [q-bio], human genetics, Biology, VARIANTS, UBIQUITIN LIGASE, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, Neurodevelopmental disorder, Intellectual disability, medicine, Missense mutation, Genetics (clinical), Genetics, Massive parallel sequencing, MUTATIONS, neurology, 1184 Genetics, developmental biology, physiology, medicine.disease, Penetrance, Human genetics, Hypotonia, 030104 developmental biology, NEDL2, genetic variation, 3111 Biomedicine, medicine.symptom, HECW2, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b57ea74f5fb77388de1042d0f1a0159Test
https://hal.science/hal-03998194/documentTest

المؤلفون: Liz M Nouel-Saied, Tuomo Määttä, Hannaleena Kokkonen, Irma Järvelä, Magda Kamila Kadlubowska, Isabelle Schrauwen, Auli Siren, Anushree Acharya, Suzanne M. Leal

المساهمون: Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Tampere University, Kanta-Häme Central Hospital Hämeenlinna

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Disease, QH426-470, 030105 genetics & heredity, Neurodevelopmental disorder, Gene duplication, Intellectual disability, Chromosome Duplication, Medicine, Genetics (clinical), Exome sequencing, Oligonucleotide Array Sequence Analysis, X-chromosome, Comparative Genomic Hybridization, Clinical Report, DEVELOPMENTAL DELAY, Chromosomal fragile site, neurodevelopmental disorders, Exons, Pedigree, Phenotype, Female, Adult, medicine.medical_specialty, GENES, Adolescent, DNA Copy Number Variations, Clinical Reports, Structural variation, 03 medical and health sciences, Young Adult, Intellectual Disability, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, AUTISM, Molecular Biology, Alleles, Genetic Association Studies, X‐chromosome, Chromosomes, Human, X, MUTATIONS, business.industry, microduplication, medicine.disease, DUPLICATION, DELETIONS, 030104 developmental biology, Autism, 3111 Biomedicine, business, MENTAL-RETARDATION

وصف الملف: fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f1033800b63a679ae56ad954114a002Test
http://europepmc.org/articles/PMC8683627Test

المؤلفون: Kwanghyuk Lee, Pauline Arnaud, Guillaume Jondeau, Dianna M. Milewicz, Sarah Dyack, Julie De Backer, Rajani D. Aatre, Stephanie E. Wallace, Dongchuan Guo, Catherine Boileau, Andrea L. Rideout, Ellen S. Regalado, Ellen M. Hostetler, Nadine Hanna, Bert Callewaert, Laura Muiño-Mosquera, Suzanne M. Leal

المصدر: Journal of Medical Genetics. 56:252-260

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Variant type, business.industry, 030204 cardiovascular system & hematology, medicine.disease, Penetrance, 03 medical and health sciences, Dissection, 030104 developmental biology, 0302 clinical medicine, Aneurysm, Internal medicine, Cohort, Genetics, medicine, Cardiology, Missense mutation, Age of onset, Haploinsufficiency, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ea2df80b76c6472009897942c3d77dfdTest
https://doi.org/10.1136/jmedgenet-2018-105583Test

المؤلفون: Alexandra Janda, Stephanie E. Wallace, Claudio F. Russo, Dongchuan Guo, Guillaume Jondeau, Dianna M. Milewicz, Ellen M. Hostetler, Catherine Boileau, Nadine Hanna, Roberto Colombo, Tami Johnston, Bo Carlberg, Kwanghyuk Lee, Christian Antolik, Ellen S. Regalado, Suzanne M. Leal, Limin Gong, Richard J. Kulmacz, Matias Hannuksela, Pauline Arnaud

المصدر: Genetics in Medicine. 21:144-151

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, MYLK, Myosin light-chain kinase, Aortic Diseases, macromolecular substances, 030105 genetics & heredity, Biology, thoracic aortic surgery, Aortic disease, 03 medical and health sciences, Aneurysm, Dissecting, Pregnancy, Myosin, medicine, Humans, Missense mutation, Genetic Testing, hereditary thoracic aortic disease, Myosin-Light-Chain Kinase, Settore BIO/10 - BIOCHIMICA, Aorta, Genetics (clinical), Aged, Genetic testing, Genetics, acute aortic dissection, medicine.diagnostic_test, Kinase, Calcium-Binding Proteins, High-Throughput Nucleotide Sequencing, food and beverages, Heterozygote advantage, Middle Aged, Aneurysm, Pedigree, 3. Good health, 030104 developmental biology, Female, myosin light-chain kinase, Dissecting

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f61c490cd42b72834e9fd8f7364652c6Test
https://doi.org/10.1038/s41436-018-0038-0Test

المؤلفون: Imen Chakchouk, Shabir Hussain, Khurram Liaqat, Irfan Ullah, Isabelle Schrauwen, Deborah A. Nickerson, Izoduwa Abbe, Michael J. Bamshad, Kwanghyuk Lee, Wasim Ahmad, Muhammad Ansar, Muhammad Umair, Khadim Shah, Abdul Nasir, Syed Irfan Raza, Anushree Acharya, Suzanne M. Leal

المصدر: Journal of Human Genetics. 64:153-160

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Calcium Channels, L-Type, Heart Diseases, Pedigree chart, Deafness, 030105 genetics & heredity, medicine.disease_cause, Article, Sinoatrial node dysfunction, 03 medical and health sciences, Heart rate, Genetics, Humans, Medicine, Missense mutation, Pakistan, Clinical significance, Genetics (clinical), Sinoatrial Node, Mutation, business.industry, Sinoatrial node, Haplotype, Prognosis, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c7e6346d2cb60b3a96d8cf9aac08857Test
https://doi.org/10.1038/s10038-018-0542-8Test

المؤلفون: Falak Sher Khan, Imen Chakchouk, Arnaud P. J. Giese, Wasim Ahmad, Abdul Aziz, Ghazanfar Ali, Asmat Ullah, David T Lafont, Saima Riazuddin, Kwanghyuk Lee, Suzanne M. Leal, Zubair Ahmed, Deborah A. Nickerson, Anushree Acharya, Muhammad Ansar, Michael J. Bamshad, Regie Lyn P. Santos-Cortez, Isabelle Schrauwen

المصدر: Journal of Bone and Mineral Research. 34:375-386

مصطلحات موضوعية: Male, 0301 basic medicine, Apical ectodermal ridge, Postaxial polydactyly type A, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Biology, Article, Fingers, Mice, 03 medical and health sciences, Limb bud, 0302 clinical medicine, Exome Sequencing, medicine, Animals, Humans, Exome, Orthopedics and Sports Medicine, Exome sequencing, Progress zone, Mice, Knockout, Polydactyly, Homozygote, Nuclear Proteins, Proteins, Anatomy, Toes, medicine.disease, Ciliopathies, Ciliopathy, 030104 developmental biology, Codon, Nonsense, Polysyndactyly, Female, Carrier Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb70fa04f6a520b7ce80c71cd88cce55Test
https://doi.org/10.1002/jbmr.3594Test