المؤلفون: Tamara Sarkisian, Stepan Atoyan, Gernot Kriegshäuser, Hasmik Hayrapetyan, Christian Oberkanins

المصدر: Rheumatology. 60:441-444

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Familial Mediterranean fever, Polymorphism, Single Nucleotide, Gastroenterology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Pharmacology (medical), Age of Onset, Allele, Child, Alleles, 030203 arthritis & rheumatology, Serum Amyloid A Protein, business.industry, Age Factors, Serum amyloid A1, Middle Aged, MEFV, medicine.disease, Familial Mediterranean Fever, Child, Preschool, 030220 oncology & carcinogenesis, Mutation, Cohort, Female, Allelic heterogeneity, Age of onset, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2ef5273cb0117378cfab633475d5c1bTest
https://doi.org/10.1093/rheumatology/keaa452Test

المؤلفون: Reza Hajati, Atefeh Davarzani, Mahdieh Pashaei, Farzaneh Larti, Afagh Alavi, Babak Zamani, Shahriar Nafissi, Mohammad Rohani, Yalda Nilipour

المصدر: Journal of neurogenetics. 35(2)

مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Adolescent, Hereditary spastic paraplegia, Cytochrome P450 Family 7, Disease, Biology, Genetic analysis, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Exome Sequencing, Genetics, medicine, Humans, Child, Gene, Genetic heterogeneity, Spastic Paraplegia, Hereditary, Apyrase, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, Child, Preschool, Mutation, Steroid Hydroxylases, Allelic heterogeneity, Female, Carrier Proteins, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c2cd962763332dfd6ca3c6b40906cf4Test
https://pubmed.ncbi.nlm.nih.gov/33771085Test

المؤلفون: Katta M. Girisha, Naveenchandra M. Shetty, Anju Shukla, Shruti Pande, Periyasamy Radhakrishnan

المصدر: Am J Med Genet A

مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Microcephaly, 030105 genetics & heredity, Biology, Microphthalmia, Article, Congenital Abnormalities, 03 medical and health sciences, Young Adult, Fetus, HHAT, Holoprosencephaly, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Exome sequencing, Infant, Newborn, Infant, medicine.disease, Pedigree, Fetal Diseases, 030104 developmental biology, Agenesis, Child, Preschool, Allelic heterogeneity, Female, Acyltransferases, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d57e44831f84711e3690548275778081Test
https://pubmed.ncbi.nlm.nih.gov/33749989Test

المؤلفون: Luciana Bastos-Rodrigues, Márcio Bittar Nehemy, Luiz Oswaldo Carneiro Rodrigues, Débora Marques de Miranda, Vanessa Waisberg

المصدر: Graefe's Archive for Clinical and Experimental Ophthalmology. 257:1453-1458

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Neurofibromatosis 2, Pathology, medicine.medical_specialty, Visual acuity, Adolescent, Eye Diseases, genetic structures, DNA Mutational Analysis, Visual Acuity, medicine.disease_cause, Retina, Frameshift mutation, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Genes, Neurofibromatosis 2, medicine, Humans, Hamartoma, Genetic Testing, Neurofibromatosis type 2, Pathological, Mutation, business.industry, DNA, Middle Aged, medicine.disease, Dilated fundus examination, eye diseases, Sensory Systems, Ophthalmology, Phenotype, 030104 developmental biology, Female, Allelic heterogeneity, medicine.symptom, business, Tomography, Optical Coherence, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b78ec9c7eea1b8a3b61de651b5cd3d8Test
https://doi.org/10.1007/s00417-019-04348-5Test

المؤلفون: J. Wasserman, Danuta Wasserman, M. Sokolowski

المصدر: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 177:774-784

مصطلحات موضوعية: Adult, Genetic Markers, Male, 0301 basic medicine, Multifactorial Inheritance, Calcium Channels, L-Type, Genotype, Offspring, Suicide, Attempted, Genome-wide association study, Polymorphism, Single Nucleotide, Receptors, N-Methyl-D-Aspartate, Genome, Suicidal Ideation, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Risk Factors, Chromogranins, GTP-Binding Protein alpha Subunits, Gs, GNAS complex locus, Humans, Genetic Predisposition to Disease, Gene, Genetics (clinical), Genetic association, Genetics, biology, Intracellular Signaling Peptides and Proteins, Brain, Membrane Proteins, Middle Aged, Neoplasm Proteins, Suicide, Psychiatry and Mental health, 030104 developmental biology, Case-Control Studies, Synapses, biology.protein, Female, GRIN2B, Allelic heterogeneity, Transcriptome, Ukraine, 030217 neurology & neurosurgery, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1de908e07c450acb2eab456980eb2429Test
https://doi.org/10.1002/ajmg.b.32694Test

المؤلفون: Andreas R. Janecke, Taras Valovka, Daniela Karall, Tanja Janjic, Edda Haberlandt, Thomas Müller, Georgios Blatsios

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)

مصطلحات موضوعية: 0301 basic medicine, Adult, Pathology, medicine.medical_specialty, 030105 genetics & heredity, QH426-470, Frameshift mutation, Craniofacial Abnormalities, 03 medical and health sciences, Epilepsy, Blindness, Cortical, Atrophy, Intellectual disability, medicine, Genetics, Guanine Nucleotide Exchange Factors, Humans, cortical blindness, Molecular Biology, Genetics (clinical), Cells, Cultured, business.industry, Cortical blindness, GTPase-Activating Proteins, Homozygote, Syndrome, Original Articles, DOCK7, Sulcus, medicine.disease, recognizable syndrome, 030104 developmental biology, medicine.anatomical_structure, epileptic encephalopathy, nonsense‐mediated RNA decay, Mutation, Allelic heterogeneity, Female, Original Article, business, Occipital lobe

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::312cd26313bac0c19db9313f662edd9aTest
https://pubmed.ncbi.nlm.nih.gov/33471954Test

المؤلفون: Faiqa Imtiaz, Nadia Sakati, Lina Elbaik, Nouf S. Al-Numair, Khushnooda Ramzan, Mohammed Al-Owain, Selwa A.F. Al-Hazzaa, Sarah Al-Ageel

المصدر: Genes
Genes, Vol 11, Iss 1474, p 1474 (2020)
Volume 11
Issue 12

مصطلحات موضوعية: 0301 basic medicine, Male, Usher syndrome, 030105 genetics & heredity, Deafness, Compound heterozygosity, whole exome sequencing, CDH23, Gene Frequency, Genetics (clinical), Exome sequencing, Genetics, Disease gene identification, Cadherins, Pedigree, missense variants, Allelic heterogeneity, Female, medicine.symptom, Usher Syndromes, Retinitis Pigmentosa, Adult, lcsh:QH426-470, Adolescent, Genotype, Hearing loss, Saudi Arabia, Mutation, Missense, Cadherin Related Proteins, Biology, nonsyndromic hearing loss, Article, 03 medical and health sciences, Exome Sequencing, medicine, otorhinolaryngologic diseases, Humans, Family, DFNB12, Allele, Alleles, medicine.disease, eye diseases, lcsh:Genetics, 030104 developmental biology, Mutation, phenotypic variability

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0d447ddd5ac80a39a27d2a4ec1a9ab4Test
http://europepmc.org/articles/PMC7764456Test

المؤلفون: Adam Freund, Andrew Deighan, Kevin M. Wright, Jojic, Di Francesco A, Gary A. Churchill, Anil Raj

المصدر: eLife. 11

مصطلحات موضوعية: Adult, Collaborative Cross Mice, Calorie restriction, Biology, General Biochemistry, Genetics and Molecular Biology, Mice, Pleiotropy, Genetic variation, Additive genetic effects, Animals, Humans, Allele, Alleles, Genetics, General Immunology and Microbiology, General Neuroscience, Body Weight, Genetic Variation, General Medicine, Genomics, Heritability, Genetic architecture, Diet, Phenotype, Allelic heterogeneity, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43804821e7285a3f2f556ca85ca34622Test
https://pubmed.ncbi.nlm.nih.gov/35838135Test

المؤلفون: Pipis, Menelaos, Feely, Shawna ME, Polke, James M, Skorupinska, Mariola, Perez, Laura, Shy, Rosemary R, Laura, Matilde, Morrow, Jasper M, Moroni, Isabella, Pisciotta, Chiara, Taroni, Franco, Vujovic, Dragan, Lloyd, Thomas E, Acsadi, Gyula, Yum, Sabrina W, Lewis, Richard A, Finkel, Richard S, Herrmann, David N, Day, John W, Li, Jun, Saporta, Mario, Sadjadi, Reza, Walk, David, Burns, Joshua, Muntoni, Francesco, Ramchandren, Sindhu, Horvath, Rita, Johnson, Nicholas E, Züchner, Stephan, Pareyson, Davide, Scherer, Steven S, Rossor, Alexander M, Shy, Michael E, Reilly, Mary M, Inherited Neuropathies Consortium-Rare Disease Clinical Research Network (INC-RDCRN)

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Brain

مصطلحات موضوعية: 0301 basic medicine, standardized response mean, Male, Longitudinal study, Charcot-Marie-Tooth disease type 2A, genotype-phenotype correlations, Disease, GTP Phosphohydrolases, Cohort Studies, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Longitudinal Studies, Prospective Studies, Age of Onset, Prospective cohort study, Child, Genes, Dominant, Neurologic Examination, education.field_of_study, Predictive marker, AcademicSubjects/SCI01870, Charcot-Marie-Tooth Examination Score v2.0, Prognosis, Natural history, Child, Preschool, Cohort, Disease Progression, Allelic heterogeneity, Female, Adult, Genetic Markers, medicine.medical_specialty, Orthotic Devices, Adolescent, Population, Genes, Recessive, Mitochondrial Proteins, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, education, Genetic Association Studies, business.industry, Infant, Original Articles, mitofusin-2, 030104 developmental biology, Wheelchairs, AcademicSubjects/MED00310, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf91260bc45bb4c10d775b4f4198147bTest

المؤلفون: Chiara Lanzani, Ming Li, Zhong Zhong, Yunhua Liao, Xueqing Yu, Jia Nee Foo, Nan Chen, Jianjun Liu, Dianchun Shi, Jian Chen, Hong Zhang, Chiea Chuen Khor, Gang Xu, Lorena Citterio, Jin-Xin Bei, Li Wang, Jianxin Wan, Gengru Jiang, Yi Xin Zeng, Meng-Hua Chen, Peiran Yin, Zhihong Liu, Erika Salvi, Qinkai Chen, Ling Wang

المصدر: J Am Soc Nephrol

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, China, Single-nucleotide polymorphism, Genome-wide association study, Human leukocyte antigen, Biology, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, 0302 clinical medicine, Asian People, Protein-Arginine Deiminase Type 4, Genetic predisposition, Humans, Genetic Predisposition to Disease, Allele, Receptors, Immunologic, Genetics, Genetic heterogeneity, Glomerulonephritis, IGA, General Medicine, Middle Aged, 030104 developmental biology, Nephrology, 030220 oncology & carcinogenesis, Case-Control Studies, Interferon Regulatory Factors, Allelic heterogeneity, Female, Imputation (genetics), Meta-Analysis, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4de0c52daec7f86dc1098685f4af945Test
https://europepmc.org/articles/PMC7790208Test/