-
1دورية أكاديمية
المؤلفون: Bret L. Bostwick, Scott McLean, Jennifer E. Posey, Haley E. Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K. Grange, Marisa V. Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L. Jefferies, Members of the Undiagnosed Diseases Network, Jill A. Rosenfeld, Lisa Emrick, Kimberly M. Nugent, James R. Lupski, John W. Belmont, Brendan Lee, Seema R. Lalani
المصدر: Genome Medicine, Vol 9, Iss 1, Pp 1-9 (2017)
مصطلحات موضوعية: CDK13, CHDFIDD, De novo variant, Neurodevelopmental disorders, Agenesis of the corpus callosum, Hypertelorism, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
-
2دورية أكاديمية
المصدر: Case Reports in Genetics, Vol 2013 (2013)
وصف الملف: electronic resource
-
3
المؤلفون: Cédric Le Caignec, Fiona Haslam McKenzie, Jozef Gecz, Erik C. Thorland, Michelle Ward, Sharron Townshend, Chris Troedson, Marybeth Hummel, Andre E. Minoche, Raman Kumar, Elizabeth E. Palmer, Rebecca Macintosh, Joris Andrieux, Mark J. Cowley, Olivier Pichon, Edwin P. Kirk, Anja Ravine, Bénédicte Demeer, Dale Wright, Marie Shaw, Ann M. E. Bye, Nicola Foulds, Lucinda Murray, Melanie Leffler, Rani Sachdev, Cassandra K. Runke, Renee Carroll, Bertrand Isidor, Urwah Nawaz, Michael Field, Salam Hadah Albarazi
المصدر: Am J Hum Genet
مصطلحات موضوعية: Male, Monocarboxylic Acid Transporters, Heterozygote, Adolescent, Ubiquitin-Protein Ligases, Gene Dosage, Mutation, Missense, Mothers, Nerve Tissue Proteins, Locus (genetics), Biology, Young Adult, X Chromosome Inactivation, Report, Intellectual Disability, Chromosome Duplication, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Missense mutation, Child, Gene, Skewed X-inactivation, Genetics (clinical), X chromosome, Hemizygote, Symporters, Australia, Middle Aged, medicine.disease, Phenotype, Pedigree, Child, Preschool, Face, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00f32c7a2dbf50567179c38d936df1ff
https://doi.org/10.1016/j.ajhg.2020.10.005 -
4
المؤلفون: Cheryl Cytrynbaum, Francesca Mattioli, Maria J. Guillen Sacoto, Federico Santoni, Rosanna Weksberg, Amina Nasar, Annemarie Fock, Henry Houlden, Shaikh Riazuddin, Tobias B. Haack, Roisin Sullivan, Mona Grimmel, Helen Griffin, Stylianos E. Antonarakis, Nuzhat Rana, Andreea Manole, Marisa I. Mendes, Ayca Dilruba Aslanger, Justyna Iwaszkiewicz, Julia Mohr, Rolph Pfundt, Muhammed Ilyas, Tina Duelund Hjortshøj, Kshitij Mankad, Muhammad Ansar, Katherine M. Christensen, Sonal Desai, Aida Telegrafi, Faisal Zafar, Helena Gásdal Karstensen, Dagan Jenkins, Yue Si, John F. Mantovani, Alice Goldenberg, Sylvain Debard, Muhammad T. Sarwar, Jagdeep S. Walia, Stephanie Efthymiou, Rita Horvath, Vincenzo Salpietro, Reza Maroofian, Jawad Ahmed, Joost Raaphorst, Lindsay B. Henderson, Benyekhlef Kara, Lauren Badalato, Adnan Y. Manzur, Desirée E.C. Smith, Ruben Portier, Marwan Shinawi, Marisa V. Andrews, Gajja S. Salomons, John B. Vincent, Amélie Piton, Felix Distelmaier, Emmanuelle Ranza, Jean-Louis Mandel, Sohail A. Paracha, Marybeth Hummel, Jürg Bähler, Dustin Baldridge, Muhammad A. Usmani, Lu Wang, Maria Rodriguez Lopez, Frédéric Fischer, Annette Seibt, Servi J. C. Stevens, Matthew J. Jennings, Majdi Kara, Amelia Kirby, Hubert Dominique Becker, Kristin W. Barañano, Christopher S. Francklyn, Saima Riazuddin, Rasim Ozgur Rosti, Emer O'Connor, Yalda Jamshidi, Barbara Oehl-Jaschkowitz, Ricardo Harripaul, Anne Marie Jelsig, Anna Sarkozy, Indran Davagnanam, Zubair M. Ahmed, David A. Koolen, Joseph G. Gleeson, Heinz Gabriel, Alkyoni Athanasiou-Fragkouli, Muhammad Ayub, Alejandro Horga, Conny van Ravenwaaij, Bruno Senger, Ingrid M. Wentzensen
المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP), Neurology, Laboratory Genetic Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ASLANGER, Ayça Dilruba, Université de Strasbourg (UNISTRA), MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D)
المصدر: American Journal of Human Genetics, 107, 2, pp. 311-324
American Journal of Human Genetics, 107(2), 311-324. CELL PRESS
American journal of human genetics, 107(2), 311-324. Cell Press
American Journal of Human Genetics, 107, 311-324
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.311-324. ⟨10.1016/j.ajhg.2020.06.016⟩
American Journal of Human Genetics, 107(2), 311-324. Cell Press
Manole, A, Efthymiou, S, O'Connor, E, Mendes, M I, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, M R, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, C S, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, L B, Kara, B, Aslanger, A D, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, K M, Wang, L, Rosti, R O, Paracha, S A, Sarwar, M T, Jenkins, D, Ahmed, J, Santoni, F A, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, I M, Guillen Sacoto, M J, Si, Y, Telegrafi, A, Andrews, M V, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, A J M, Stevens, S J C, Bähler, J, Nasar, A, Mantovani, J F, Manzur, A, Sarkozy, A, Smith, D E C, Salomons, G S, Ahmed, Z M, Riazuddin, S, Riazuddin, S, Usmani, M A, Seibt, A, Ansar, M, Antonarakis, S E, Vincent, J B, Ayub, M, Grimmel, M, Jelsig, A M, Hjortshøj, T D, Karstensen, H G, Hummel, M, Haack, T B, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, J G, Becker, H, Mandel, J L, Koolen, D A, Houlden, H & SYNAPS Study Group 2020, ' De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects ', American journal of human genetics, vol. 107, no. 2, pp. 311-324 . https://doi.org/10.1016/j.ajhg.2020.06.016
Am J Hum Genetمصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Developmental delay, [SDV]Life Sciences [q-bio], Aspartate-tRNA Ligase, TRANSFER-RNA SYNTHETASE, RNA, Transfer, Amino Acyl, 0302 clinical medicine, RNA, Transfer, Loss of Function Mutation, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), next generation sequencing, chemistry.chemical_classification, Genetics, neurodevelopment, Stem Cells, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Neural stem cell, Pedigree, Amino acid, developmental delay, Gain of Function Mutation, Transfer RNA, Female, Amino Acyl, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], EXPRESSION, Ataxia, Biology, Article, Cell Line, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, aminoacyl-tRNA synthetase, epilepsy, neuropathy, Alleles, Genetic Predisposition to Disease, Humans, Neurodevelopmental Disorders, 2 SIBLINGS, medicine, Allele, Epilepsy, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, medicine.disease, Transfer, 030104 developmental biology, Enzyme, chemistry, Aminoacyl-tRNA synthetase, RNA, 030217 neurology & neurosurgery, Function (biology)
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a52bcefda63010f9428f83b46704ce25
https://doi.org/10.1016/j.ajhg.2020.06.016 -
5
المؤلفون: Marybeth Hummel, Esther Bollow, Eva Küstner, Ingrid Schütz-Fuhrmann, Jennifer Grammes, Stefan Zimny, Jörg-Carsten Kämmer, Thomas Kubiak, Dpv Initiative, A. Dapp, Reinhard W. Holl
المصدر: Diabetic medicine : a journal of the British Diabetic Association. 37(7)
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, MEDLINE, German, Endocrinology, Insulin Infusion Systems, Internal medicine, Internal Medicine, Medicine, Humans, Hypoglycemic Agents, Insulin, Registries, Insulin injection, Aged, Aged, 80 and over, Type 1 diabetes, business.industry, medicine.disease, language.human_language, Subcutaneous insulin, Diabetes Mellitus, Type 1, Austria, language, business, Older people
-
6
المؤلفون: Rani H. Singh, Marybeth Hummel, Susan Romie, Sheela Shrestha, Chin to Fong, Katie Coakley, Hilary J. Vernon, Dennis Bartholomew, Kelly E. Jackson, Kristin D'Aco, Dwight D. Koeberl, Paula Engelking, Mathew J. Edick, Melissa Samons, Nancy D. Leslie, David Dimmock, Joyanna Hansen, Sandy vanCalcar, Sonja Henry, Barbara Burton, Sarah G. Hainline, Rebecca Loman, Cecilia Rajakaruna, Esperanza Font-Montgomery, Alvaro H. Serrano Russi, Cynthia A. Cameron, Ada Hamosh, Jennie Wilkins, Georgianne L. Arnold, Nancy Ambrose, Cassie Bird, Alexander Asamoah, Yong-hui Jiang, Nancy Smith, David Kronn, Melanie Goff, Emily Phillips, Jerry Vockley, Lauren Dwyer, Sangeetha Lakshman, Adrya Stembridge, Gerald Feldman, Cate Walsh-Vockley, Paul Levy, Barbara K. Burton, Quinn Stein, Loren D.M. Pena, Priya S. Kishnani, Susan Berry, Laura Davis-Keppen, Melinda Dodge, William B. Rizzo, Machelle Dawson, George Hoganson, Kristi Bentler, Kaitlin Justice, Ayesha Ahmad, Richard Erbe, Sara A. Elsbecker, Theresa Hart, Jessica Scott Schwoerer, Susan A. Berry, Shaohui Zhai, William J. Rhead, Tara Chandra Narumanchi, Bryan Hainline, Dawn Peck, Kara Goodin, Sara Elsbecker, Sally J. Hiner, Janet Thomas, Ashley Swan, Racheal Powers, Sue Lipinski, Clare Edano, Georgianne Arnold
المصدر: Molecular Genetics and Metabolism. 119:75-82
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Genotype, Endocrinology, Diabetes and Metabolism, Compound heterozygosity, Biochemistry, Article, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, 03 medical and health sciences, Neonatal Screening, Endocrinology, Genetics, medicine, Humans, Molecular Biology, ACADM, Newborn screening, business.industry, Homozygote, Infant, Newborn, medicine.disease, MCADD, Low birth weight, 030104 developmental biology, Inborn error of metabolism, Mutation, Cohort, Female, medicine.symptom, business, Metabolism, Inborn Errors, ACADM Gene
-
7
المؤلفون: Nicola, Longo, Georgianne L, Arnold, Gabriella, Pridjian, Gregory M, Enns, Can, Ficicioglu, Susan, Parker, Jessica L, Cohen-Pfeffer, Marybeth, Hummel
المصدر: Molecular Genetics and Metabolism. 114:557-563
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Time Factors, Adolescent, Drug-Related Side Effects and Adverse Reactions, Demographics, Phenylalanine, Endocrinology, Diabetes and Metabolism, Population, Blood phenylalanine, Biochemistry, Young Adult, Endocrinology, Continuous use, Phenylketonurias, Internal medicine, Genetics, medicine, Humans, Registries, Child, Adverse effect, education, Molecular Biology, education.field_of_study, business.industry, Infant, Newborn, Infant, Middle Aged, Biopterin, Diet, Safety profile, Child, Preschool, Tyrosine, Female, Long term safety, business
-
8
المؤلفون: Gavin Arno, A. R. Webster, Xiang Wang, Omar A. Mahroo, Naushin Waseem, Christina Chakarova, Kinga M. Bujakowska, Graham E. Holder, Eric A. Pierce, Monique J Leys, Marybeth Hummel, Rola Ba-Abbad, Keren J. Carss, Mohamed, F L Raymond
المصدر: Investigative Ophthalmology & Visual Science
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, genetic structures, DNA Mutational Analysis, Visual Acuity, Retinal Pigment Epithelium, Fundus (eye), Receptors, G-Protein-Coupled, 0302 clinical medicine, Fluorescein Angiography, Frameshift Mutation, Genes, Dominant, next generation sequencing, Aged, 80 and over, Sanger sequencing, medicine.diagnostic_test, Retinal Degeneration, High-Throughput Nucleotide Sequencing, Middle Aged, Pedigree, 3. Good health, RGR, symbols, Female, deep retinal reticular pigmentation, Tomography, Optical Coherence, Retinopathy, Adult, medicine.medical_specialty, Vision Disorders, autosomal dominant retinal dystrophy, Biology, Frameshift mutation, Young Adult, 03 medical and health sciences, symbols.namesake, Ophthalmology, Genetics, Electroretinography, medicine, Humans, Alleles, Aged, Whole Genome Sequencing, Haplotype, medicine.disease, eye diseases, 030104 developmental biology, 030221 ophthalmology & optometry, sense organs, Visual Fields, Asymptomatic carrier
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1c69b20141813852dc50f9c86cee275
https://doi.org/10.1167/iovs.18-25061 -
9
المؤلفون: Marybeth Hummel, Satdev Batish, Anthony P. Morise, Abnash C. Jain, Ravindra Bhardwaj, Bradford E. Warden, Harvinder S. Dod, Robert J. Beto
المصدر: American Journal of Medical Genetics Part A. :191-195
مصطلحات موضوعية: Adult, Chromosome Aberrations, Male, Pediatrics, medicine.medical_specialty, 1p36 deletion syndrome, business.industry, Heart Ventricles, Adult population, Cardiomyopathy, Chromosomal anomaly, medicine.disease, Chromosomes, Human, Pair 1, Ventricule gauche, Chromosomal Abnormality, Genetics, medicine, Humans, Left ventricular noncompaction, Myocardial disease, business, Genetics (clinical)
-
10
المؤلفون: Seema R. Lalani, Marybeth Hummel, Nicole Tartaglia, Jonathan S. Berg, John W. Belmont, Zhishuo Ou, Ankita Patel, James R. Lupski, A. Craig Chinault, Stephen Amato, Sau Wai Cheung, Shay Ben-Shachar, Millan S. Patel, V. Reid Sutton, Chad A. Shaw
المصدر: The American Journal of Human Genetics. 82(1):214-221
مصطلحات موضوعية: Male, Chromosomes, Human, Pair 22, Persistent truncus arteriosus, In situ hybridization, Biology, Bicuspid aortic valve, Report, DiGeorge syndrome, DiGeorge Syndrome, medicine, Genetics, Humans, Abnormalities, Multiple, Genetics(clinical), In Situ Hybridization, Fluorescence, Genetics (clinical), medicine.diagnostic_test, Breakpoint, Chromosome, Syndrome, medicine.disease, Female, Chromosome Deletion, Fluorescence in situ hybridization, Comparative genomic hybridization