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المؤلفون: Emine Kartal Baykan, Ceren Alavanda, Erdal Kurnaz, Pinar Ata, Oguzhan Yarali, Ayberk Turkyilmaz, Atilla Cayir, Dilek Gogas Yavuz
المصدر: Metabolic Syndrome and Related Disorders. 19:340-346
مصطلحات موضوعية: Adult, medicine.medical_specialty, Turkey, Endocrinology, Diabetes and Metabolism, Familial hypercholesterolemia, Cohort Studies, Hyperlipoproteinemia Type II, symbols.namesake, Internal medicine, Internal Medicine, Humans, Medicine, Child, Lipoprotein cholesterol, Heterogeneous group, business.industry, medicine.disease, Endocrinology, Receptors, LDL, Mutation, Cohort, LDL receptor, Mendelian inheritance, symbols, lipids (amino acids, peptides, and proteins), Genotype to phenotype, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917e09b90c2cae45765ca6925d4185d8Test
https://doi.org/10.1089/met.2021.0004Test -
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المؤلفون: Yorck Hellenbroich, Norbert Brüggemann, Katja Lohmann, Martje G. Pauly, Kathrin Grundmann-Hauser, Frauke Hinrichs
المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: Leukoencephalopathy, Pathology, medicine.medical_specialty, Neurology, business.industry, Hereditary spastic paraplegia, medicine, Neurology (clinical), business, medicine.disease, Compound heterozygosity, Letters: Genotype and Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87d6d166dc5930ca21b068f4bd0b0525Test
https://doi.org/10.1002/mdc3.13258Test -
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المؤلفون: Annapurna Kuppa, Yuri V. Sergeev
المصدر: Journal of analytical & pharmaceutical research
مصطلحات موضوعية: Genetics, molecular modeling, MYO7A, computational mutagenesis, Usher syndrome, Genetic disorder, Mutagenesis (molecular biology technique), genetic mutations, Biology, medicine.disease, genotype-to-phenotype, Article, inherited eye disease, Protein structure, Usher syndrome type 1B, atomic structure, Myosin VIIa, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Missense mutation, Homology modeling
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fde92047ffe4d5937178829fa1a1129bTest
https://doi.org/10.15406/japlr.2021.10.00364Test -
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المؤلفون: Marcelo Mendonça, Raquel Barbosa, Tânia Lampreia, Paulo André Dias Bastos, Marta Magriço, Jorge Oliveira
المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Ataxia, business.industry, PHARC syndrome, Genetic disorder, medicine.disease, Letters: Genotype and Phenotype, Neurology, Medicine, Deaf blindness, Neurology (clinical), medicine.symptom, business, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5dbca355c4f7bbac06763f2f1a1299cTest
https://doi.org/10.1002/mdc3.13266Test -
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المؤلفون: Kailash P. Bhatia, Anna Latorre, Victoria Ros-Castelló, Juan Carlos Martínez-Castrillo, Juan Álvarez-Linera, Isabel Pareés
المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: Dystonia, Fragile X syndrome, medicine.medical_specialty, Fragile x, Endocrinology, Neurology, business.industry, Internal medicine, medicine, Neurology (clinical), medicine.disease, business, Letters: Genotype and Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a88a9863156bd838fe6bbeaff564428Test
https://doi.org/10.1002/mdc3.13234Test -
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المؤلفون: Qiang Li, Jia Wang, Huang-Tian Yang, Nan Cao, Qiang Wu
المصدر: Stem Cells Translational Medicine, Vol 9, Iss 10, Pp 1121-1128 (2020)
Stem Cells Translational Medicineمصطلحات موضوعية: 0301 basic medicine, Heart Diseases, Heart disease, cardiac, Cell Culture Techniques, tissue regeneration, Disease, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Cell transplantation, CARDIAC THERAPY, medicine, Humans, Regeneration, Myocytes, Cardiac, lcsh:QH573-671, Induced pluripotent stem cell, cell transplantation, Embryonic Stem Cells, lcsh:R5-920, business.industry, lcsh:Cytology, Cell Differentiation, Cell Biology, General Medicine, differentiation, medicine.disease, 030104 developmental biology, embryonic stem cells (ESCs), induced pluripotent stem cells (iPSCs), Genotype to phenotype, pluripotent stem cells, business, lcsh:Medicine (General), 030217 neurology & neurosurgery, Perspectives, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fa069eb6b843c90eca8080c71ee5c33Test
https://doaj.org/article/399f16533570466b9a088a0a4c52816cTest -
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المؤلفون: Filippo Manti, Vincenzo Leuzzi, Celeste Panteghini, Barbara Garavaglia
المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: long-term outcome, Pediatrics, medicine.medical_specialty, business.industry, WDR45, Parkinsonism, Neurodevelopmental disorders, parkinsonism, Late onset, medicine.disease, Letters: Genotype and Phenotype, Neurodevelopmental disorder, Neurology, medicine, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d91400c0c11d190e92083c918fbfde76Test
https://europepmc.org/articles/PMC8721834Test/ -
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المؤلفون: Sanjay Pandey, Laxmikant Ramkumarsingh Tomar
المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: Genetics, Parkinson's disease, Neurology, Mutation (genetic algorithm), medicine, α synuclein, Neurology (clinical), Young onset Parkinson's disease, Biology, medicine.disease, Gene, Letters: Genotype and Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fc5fe2a0533cd0d6fd11b9a8609d3ffTest
https://doi.org/10.1002/mdc3.13191Test -
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المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: Dystonia, medicine.medical_specialty, biology, business.industry, Parkinsonism, medicine.disease, Letters: Genotype and Phenotype, Endocrinology, Neurology, Internal medicine, medicine, biology.protein, Dat scan, Neurology (clinical), business, Dopamine transporter
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::844e67e044b951fe964e399a2c21b634Test
https://doi.org/10.1002/mdc3.13140Test -
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المصدر: Mov Disord Clin Pract
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Brain calcifications, medicine, Aneuploidy, Neurology (clinical), medicine.disease, business, Letters: Genotype and Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::766a09880b7674ef98b79776ec6557b6Test
https://europepmc.org/articles/PMC8564813Test/