المؤلفون: Moises Dias, Luiz Felipe Pinto, Marcus Vinícius Pinto, Renata Gervais, Paula Accioli, Gabriela Amorim, Mariana Guedes, Carlos Perez Gomes, Roberto Coury Pedrosa, Márcia Waddington-Cruz

المصدر: Arquivos de Neuro-Psiquiatria, Vol 82, Iss 04, Pp 001-007 (2024)

مصطلحات موضوعية: Amyloidosis, Peripheral Nervous System Diseases, Amyloid Neuropathies, Familial, Mutation, Missense, Amyloidosis, Hereditary, Transthyretin-Related, Inotersen, Amiloidose, Doenças do Sistema Nervoso Periférico, Neuropatias Amiloides Familiares, Mutação de Sentido Incorreto, Amiloidose Neuropática Hereditária, Inotersena, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/0004-282XTest; https://doaj.org/toc/1678-4227Test

الوصول الحر: https://doaj.org/article/53989f511b9f4e7ca15a62d8b951e699Test

المؤلفون: LI Hai‑jiang, WANG Chao‑dong

المصدر: Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 23, Iss 9, Pp 853-858 (2023)

مصطلحات موضوعية: alzheimer disease, paraplegia, genes, mutation, missense, pedigree, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://cjcnn.org/index.php/cjcnn/article/view/2761Test; https://doaj.org/toc/1672-6731Test

الوصول الحر: https://doaj.org/article/34d887cd223841c0b293eef6f31eb5d0Test

المؤلفون: Chirantap Markand, Oza, Madhura Bharat, Karguppikar, Vaman, Khadilkar, Anuradha, Khadilkar

المصدر: BMJ case reports. 15(2)

مصطلحات موضوعية: Diabetes Mellitus, Type 2, Hyperglycemia, Glucokinase, Homozygote, Mutation, Infant, Newborn, Mutation, Missense, Humans

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d90bc691a7b451f98ccc40f1ccb06ef6Test
https://pubmed.ncbi.nlm.nih.gov/35228227Test

المؤلفون: Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T, Fortuno, Cristina, González-Neira, Anna, Heijl, Stephan M, Adank, Muriel A, Ahearn, Thomas U, Andrulis, Irene L, Auvinen, Päivi, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bremer, Michael, Briceno, Ignacio, Camp, Nicola J, Campbell, Archie, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, NBCS Collaborators, Collée, J Margriet, Czene, Kamila, Dennis, Joe, Dörk, Thilo, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G, Glendon, Gord, Guénel, Pascal, Gündert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F, Hartman, Mikael, Hogervorst, Frans BL

مصطلحات موضوعية: Breast cancer, Genetic epidemiology, Missense variants, Risk prediction, Breast Neoplasms, Case-Control Studies, Female, Genetic Predisposition to Disease, Humans, Mutation, Missense

العلاقة: https://dx.doi.org/10.1101/2021.09.02.21262369Test

الإتاحة: https://doi.org/10.17863/cam.8584110.1101/2021.09.02.21262369Test
https://www.repository.cam.ac.uk/handle/1810/338428Test

المؤلفون: Parham Habibzadeh, Zahra Tabatabaei, Mohammad Ali Farazi Fard, Laila Jamali, Aazam Hafizi, Pooneh Nikuei, Leila Salarian, Mohammad Hossein Nasr Esfahani, Zahra Anvar, Mohammad Ali Faghihi

المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: Organic acidemia, Methylmalonic acidemia, Preimplantation diagnosis, Mutation, missense, Metabolic diseases, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/72cdef3074834db390b6ee2b682e9454Test

المؤلفون: Salah Daghlas, Rajani Gundluru, Uzma Khan, Ayman Nada

المصدر: BMJ case reports. 14(10)

مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Cousin, Adrenal Gland Neoplasms, Mutation, Missense, Pheochromocytoma, Asymptomatic, Gastroenterology, Paraganglioma, Internal medicine, medicine, Missense mutation, Humans, Genetic Testing, Family history, Kidney, business.industry, General Medicine, medicine.disease, medicine.anatomical_structure, Mutation (genetic algorithm), Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2bd13caa7bbde139ddcb74f99f3e25dTest
https://pubmed.ncbi.nlm.nih.gov/34663632Test

المؤلفون: Charlene H, Choo, Doug D, Chung, Kaitlyn V, Ledwitch, Alexa, Kassels, Jens, Meiler, Anthony J, Aldave

المصدر: Ophthalmic genetics. 43(4)

مصطلحات موضوعية: Adult, Corneal Dystrophies, Hereditary, Male, Amyloid Neuropathies, Familial, Extracellular Matrix Proteins, Transforming Growth Factor beta, Transforming Growth Factors, DNA Mutational Analysis, Mutation, Mutation, Missense, Humans, Female, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f263a567a86c22c71537d069de5d9f15Test
https://pubmed.ncbi.nlm.nih.gov/35315300Test

المؤلفون: Marino, DiFranco, Stephen C, Cannon

المصدر: American journal of physiology. Cell physiology. 323(2)

مصطلحات موضوعية: Disease Models, Animal, Mice, Calcium Channels, L-Type, Hypokalemic Periodic Paralysis, Mutation, Missense, Animals, NAV1.4 Voltage-Gated Sodium Channel, Muscle, Skeletal, Excitation Contraction Coupling

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::a25015184897111f48966440d8478629Test
https://pubmed.ncbi.nlm.nih.gov/35759432Test

المؤلفون: Nowrin, Shifat A., Basri, Rehana, Alam, Mohammad Khursheed, Jaafar, Saidi, Mokhtar, Khairani Idah Binti

المصدر: Pesquisa Brasileira em Odontopediatria e Clínica Integrada. January 2019 19

مصطلحات موضوعية: Genetic Variation, Mutation, Missense, Malocclusion, Angle Class III

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1983-46322019000100366Test

المؤلفون: Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Stephanie M. Robert, Sunday S. Josiah, Emre Kiziltug, Anne-Sophie Denommé-Pichon, Benjamin Cogné, Adam J. Kundishora, Le T. Hao, Hong Li, Roger E. Stevenson, Raymond J. Louie, Wallid Deb, Erin Torti, Virginie Vignard, Kirsty McWalter, F. Lucy Raymond, Farrah Rajabi, Emmanuelle Ranza, Detelina Grozeva, Stephanie A. Coury, Xavier Blanc, Elise Brischoux-Boucher, Boris Keren, Katrin Õunap, Karit Reinson, Pilvi Ilves, Ingrid M. Wentzensen, Eileen E. Barr, Solveig Heide Guihard, Perrine Charles, Eleanor G. Seaby, Kristin G. Monaghan, Marlène Rio, Yolande van Bever, Marjon van Slegtenhorst, Wendy K. Chung, Ashley Wilson, Delphine Quinquis, Flora Bréhéret, Kyle Retterer, Pierre Lindenbaum, Emmanuel Scalais, Lindsay Rhodes, Katrien Stouffs, Elaine M. Pereira, Sara M. Berger, Sarah S. Milla, Ankita B. Jaykumar, Melanie H. Cobb, Shreyas Panchagnula, Phan Q. Duy, Marie Vincent, Sandra Mercier, Brigitte Gilbert-Dussardier, Xavier Le Guillou, Séverine Audebert-Bellanger, Sylvie Odent, Sébastien Schmitt, Pierre Boisseau, Dominique Bonneau, Annick Toutain, Estelle Colin, Laurent Pasquier, Richard Redon, Arjan Bouman, Jill. A. Rosenfeld, Michael J. Friez, Helena Pérez-Peña, Syed Raza Akhtar Rizvi, Shozeb Haider, Stylianos E. Antonarakis, Charles E. Schwartz, Francisco Martínez, Stéphane Bézieau, Kristopher T. Kahle, Bertrand Isidor

المساهمون: Clinical Genetics, Clinical sciences, Medical Genetics, Reproduction and Genetics, Centre hospitalier universitaire de Nantes (CHU Nantes), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), University of Exeter, MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), The Greenwood Genetic Center, GeneDx [Gaithersburg, MD, USA], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Genève = University of Geneva (UNIGE), Yale School of Medicine [New Haven, Connecticut] (YSM), This work was granted by the French network of University Hospitals HUGO ('Hôpitaux Universitaires du Grand Ouest'), the French Ministry of Health, and the Health Regional Agencies from Poitou-Charentes (represented by Frédérique Allaire), Bretagne, Pays de la Loire, and Centre-Val de Loire (HUGODIMS, 2013, RC14_0107). W.K.C. was supported by grants from Simons Foundation Autism Research Initiative, United

المصدر: Genetics in Medicine, 24(9), 1941-1951. Lippincott Williams & Wilkins
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1941-1951. ⟨10.1016/j.gim.2022.05.009⟩

مصطلحات موضوعية: MESH: Symporters, Exome sequencing, Male, KCC2, Mutation, Missense, MESH: Catalytic Domain, Neurodevelopmental disease, Protein Serine-Threonine Kinases, X-linked intellectual disability, MESH: Brain, WNK3, SDG 3 - Good Health and Well-being, Loss of Function Mutation, Catalytic Domain, MESH: Mental Retardation, X-Linked, Humans, Phosphorylation, MESH: Hemizygote, Genetics (clinical), Hemizygote, MESH: Mutation, Missense, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Phosphorylation, Symporters, Brain, MESH: Loss of Function Mutation, MESH: Protein Serine-Threonine Kinases, MESH: Male, Mental Retardation, X-Linked, Maternal Inheritance, MESH: Maternal Inheritance

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::711e752a43d1442b0a91b2645fc1747eTest
https://doi.org/10.1016/j.gim.2022.05.009Test