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1دورية أكاديمية
المصدر: Frontiers in Genetics, Vol 8 (2017)
مصطلحات موضوعية: ExAC, dilated cardiomyopathy, progeria, type 2 diabetes, FPLD2, metabolic syndrome, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Elizabeth C. Engle, Isabelle Thiffault, Fernando Santos-Simarro, Laura A Cross, Sha Tang, Eleina M. England, James Gilfert, Shivarajan M. Amudhavalli, Sixto García-Miñaur, Robert Roger Lebel, Jonathon Hess, Zöe Powis, Wendy Alcaraz, Jameson Patak, Melissa Byler, Brenda J. Barry, Vamsee K Neerukonda, Marta Pacio-Míguez, María Palomares-Bralo, Julie Jurgens
المصدر: Clinical Genetics. 96:493-505
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, DNA Mutational Analysis, 030105 genetics & heredity, Article, Young Adult, 03 medical and health sciences, SCHAAF-YANG SYNDROME, Genetics, Cluster Analysis, Humans, Missense mutation, Medicine, Abnormalities, Multiple, skin and connective tissue diseases, Genetics (clinical), integumentary system, business.industry, Infant, Newborn, Infant, Proteins, nutritional and metabolic diseases, 030104 developmental biology, Child, Preschool, Mutation, Etiology, Female, business
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المؤلفون: Christopher Kelly, Brenda J. Barry, Kym M. Boycott, Wai-Man Chan, Daniel G. MacArthur, Sarah MacKinnon, Julie Jurgens, Anne H. O’Donnell-Luria, Hugh J. McMillan, David G. Hunter, Mary C. Whitman, Sherin Shaaban, Brandon M Pratt, Gabrielle Lemire, Elizabeth C. Engle, Eleina M. England, Caroline D. Robson
المصدر: Eur J Hum Genet
مصطلحات موضوعية: Proband, Male, Heterozygote, Adolescent, Mutation, Missense, Kinesins, Biology, DNA sequencing, Article, Lateral ventricles, Tubulin, Congenital fibrosis of the extraocular muscles, Genetics, medicine, Missense mutation, Humans, Child, Gene, Genetics (clinical), Exome sequencing, TUBB3, Binding Sites, Ophthalmoplegia, medicine.disease, Fibrosis, Malformations of Cortical Development, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cba22d6d8c3ceba86245726dc48dceda
https://europepmc.org/articles/PMC8110841/ -
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المؤلفون: Guilherme L. Yamamoto, Julie Hoover-Fong, Débora Romeo Bertola, Suming Chen, Wagner A.R. Baratela, Felicity Collins, John Christodoulou, Courtney Woods, Rosemary B. Cornell, Raha Dastgheyb, David Valle, Saja S. Khuder, Nara Sobreira, Sophie D. Curie, Arianna Franca Anzmann, Julie Jurgens, Norman J. Haughey, Sarah M. Robbins
مصطلحات موضوعية: Phosphatidylethanolamine, chemistry.chemical_compound, Cell type, medicine.anatomical_structure, chemistry, Lipid droplet, medicine, Lipid metabolism, Transfection, Fibroblast, Chondrocyte, Cell biology, Phosphocholine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fecc24642f06ddc4136b5a5059f6ea0
https://doi.org/10.1101/2019.12.19.882191 -
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المؤلفون: Joun Lee, Elizabeth C. Engle, Mary C. Whitman, Ryosuke Fujiki, Julie Jurgens
المصدر: Journal of Visualized Experiments.
مصطلحات موضوعية: 0301 basic medicine, Genetically modified mouse, General Immunology and Microbiology, Transgene, General Chemical Engineering, General Neuroscience, Motor neuron, Biology, medicine.disease, Embryonic stem cell, General Biochemistry, Genetics and Molecular Biology, Green fluorescent protein, 03 medical and health sciences, Electrophysiology, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Cell culture, medicine, Amyotrophic lateral sclerosis, Neuroscience, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3278e50f72eb1cb7953eab9f04b60405
https://doi.org/10.3791/60440-v -
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المؤلفون: Sarah Savage, Maximilian Muenke, Kym M. Boycott, Lynn Pais, Koen L.I. van Gassen, Julian A. Martinez-Agosto, Jacques C. Giltay, Eleina M. England, Oliver Bell, Stephanie Blaney, Nicole Fleischer, Maria Iascone, Pedro A. Sanchez-Lara, Sarah E. Mazzola, Tiong Yang Tan, Elizabeth C. Engle, Tommy Hu, Maria Francesca Bedeschi, Brenda J. Barry, Rebecca Signer, Marie-Ange Delrue, Sung-Kook Hong, Wilfredo Torres-Martinez, Esther Kinning, Charlotte W. Ockeloen, Elaine H. Zackai, Benjamin Cogné, Darius J. Adams, Betrand Isidor, Paul Kruszka, Julie Jurgens, Kayla Treat
المصدر: American Journal of Medical Genetics. Part A, 179(10), 2075. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 179, 2075-2082
American Journal of Medical Genetics. Part A, 179, 10, pp. 2075-2082مصطلحات موضوعية: Adult, Male, Adolescent, autism spectrum disorders, Nerve Tissue Proteins, Bioinformatics, Article, Craniosynostosis, corpus callosum, Dysgenesis, ptosis, Genetics, Humans, Medicine, Genetics(clinical), Child, Genetics (clinical), Loss function, business.industry, Facies, Infant, Syndrome, medicine.disease, Hypotonia, DNA-Binding Proteins, ZNF462, developmental delay, craniosynostosis, Phenotype, Palpebral fissure, Autism spectrum disorder, Child, Preschool, Noonan syndrome, Female, medicine.symptom, business, Haploinsufficiency, Transcription Factors, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: text/plain; application/pdf; image/pdf
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المؤلفون: Birgit Krabichler, Salmo Raskin, Adrian Lussi, Elisabeth Maurer, Johannes Zschocke, Nicole I. Wolf, Ines Kapferer-Seebacher, Fabienne Giuliano, Nara Sobreira, Michèle Muller-Bolla, Julie Jurgens, Johann Penzien, Anna Schossig, Monika Cohen, David A. Koolen, Agnès Bloch-Zupan
المساهمون: Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms
المصدر: Journal of Medical Genetics, 54(1), 54-62. BMJ Publishing Group
Journal of Medical Genetics, 54, 1, pp. 54-62
Journal of Medical Genetics, 54, 54-62
Schossig, A, Bloch-Zupan, A, Lussi, A, Wolf, N I, Raskin, S, Cohen, M, Giuliano, F, Jurgens, J, Krabichler, B, Koolen, D A, de Macena Sobreira, N L, Maurer, E, Muller-Bolla, M, Penzien, J, Zschocke, J & Kapferer-Seebacher, I 2017, ' SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome ', Journal of Medical Genetics, vol. 54, no. 1, pp. 54-62 . https://doi.org/10.1136/jmedgenet-2016-103988مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Amelogenesis Imperfecta, Genetic Linkage, Disease, Kohlschütter-Tönz syndrome, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, stomatognathic system, Intellectual disability, Genetics, medicine, Humans, Amelogenesis imperfecta, Exome, Genetic Predisposition to Disease, Genetics (clinical), Alleles, Permanent teeth, Brain Diseases, Symporters, business.industry, Dental Prophylaxis, Membrane Proteins, Nuclear Proteins, medicine.disease, Pedigree, stomatognathic diseases, 030104 developmental biology, Mutation, Dementia, Female, business, Tooth, 030217 neurology & neurosurgery, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
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المؤلفون: Szabolcs Szelinger, Dorothy K. Grange, Julie Jurgens, Jing You, Mary Beth Dinulos, Nara Sobreira, Stephanie E. Vallee, David Valle, Ashley L. Siniard, Ryan Richholt, Newell Belnap, Dustin L. Gable, Mary Armanios, Isabelle Schrauwen, Julie Hoover-Fong
المصدر: The American Journal of Human Genetics. 98:909-918
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Telomere-Binding Proteins, education, Protein Serine-Threonine Kinases, Biology, Bioinformatics, Compound heterozygosity, Article, Phosphatidylinositol 3-Kinases, 03 medical and health sciences, chemistry.chemical_compound, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Genetics(clinical), Phosphatidylinositol, Child, Gene, Genetics (clinical), Loss function, Kinase, Intracellular Signaling Peptides and Proteins, medicine.disease, Pedigree, 030104 developmental biology, chemistry, Female, Carrier Proteins, Molecular Chaperones
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المؤلفون: Mathilde Huckert, Séraphin Nguefack, John F. Bateman, Renata Moldenhauer Minillo, Nara Sobreira, Vinciane Wouters, Corinne Stoetzel, Marie-Cécile Manière, Cedrik Tekendo-Ngongang, Virginie Laugel-Haushalter, Bee Chin Chen, Vincent Laugel, Kerry A. Miller, Rutger Meinsma, Kimberly F. Doheny, Cristina Has, Stefania Gimelli, Kurt N. Hetrick, Elisabeth Flori, Sophie Dahoun, Peter G. Farlie, David Valle, John B. Mulliken, Anne Dompmartin, Helen Mecili, Georgina Caruana, Martin Poot, Susan M. White, André B.P. van Kuilenburg, Laurence Myriam Boon, Decio Brunoni, Rowani Mohd Rawi, Agnès Bloch-Zupan, Ambroise Wonkam, Ilkka Kaitila, Raoul C.M. Hennekam, Druckerei Stückle, Judith Meijer, Megan F Welfare, Ana B. Alvarez Perez, Mustapha Amyere, Satz Mengensatzproduktion, Maria de Fátima de Faria Soares, John F. Bertram, Zornitza Stark, Odile Enjolras, Jean Muller, Ebtesam M. Abdalla, Miikka Vikkula, Tiong Yang Tan, Frédérique Sloan-Béna, Julie Jurgens, Catherine Godfraind, Pierre-Louis Docquier, Hua Ling, Ravi Savarirayan, Andrew A Heggie, Hélène Dollfus, Trent Burgess
المصدر: Molecular Syndromology. 5:I-IV
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Nara Sobreira, Ana B. Alvarez Perez, Kimberly F. Doheny, Decio Brunoni, Maria de Fátima de Faria Soares, Renata Moldenhauer Minillo, Kurt N. Hetrick, Hua Ling, Julie Jurgens, David Valle
المصدر: Molecular Syndromology. 5:268-275
مصطلحات موضوعية: Genetics, 0303 health sciences, business.industry, 030305 genetics & heredity, medicine.disease, Phenotype, Bone morphogenetic protein 1, 03 medical and health sciences, PEDF, PPIB, Osteogenesis imperfecta, Genotype, Medicine, business, Gene, Genetics (clinical), 030304 developmental biology, Founder effect
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