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2كتاب إلكتروني
المؤلفون: Jaeken, JaakAff1_1610
المساهمون: Lang, Florian, editorAff1
المصدر: Encyclopedia of Molecular Mechanisms of Disease. :1638-1639
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المصدر: Journal of Inherited Metabolic Disease. 40(4):609-620
مصطلحات موضوعية: ENCODING DELTA(1)-PYRROLINE-5-CARBOXYLATE SYNTHASE, 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY, INTELLECTUAL DISABILITY, INBORN-ERRORS, GLUTAMINE-SYNTHETASE, RECESSIVE CUTIS LAXA, NEU-LAXOVA SYNDROME, MUTATIONS CAUSE, ASPARAGINE SYNTHETASE DEFICIENCY, SERINE BIOSYNTHESIS PATHWAY
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المؤلفون: de Koning, T. J.
المصدر: Journal of Inherited Metabolic Disease
مصطلحات موضوعية: Central Nervous System, 0301 basic medicine, Microcephaly, INTELLECTUAL DISABILITY, INBORN-ERRORS, Glutamine, Serine, Mice, 0302 clinical medicine, Asparagine, RECESSIVE CUTIS LAXA, Amino Acids, Genetics (clinical), Amino acid synthesis, SERINE BIOSYNTHESIS PATHWAY, chemistry.chemical_classification, Brain Diseases, ENCODING DELTA(1)-PYRROLINE-5-CARBOXYLATE SYNTHASE, Fetal Growth Retardation, Ichthyosis, High-Throughput Nucleotide Sequencing, NEU-LAXOVA SYNDROME, ASPARAGINE SYNTHETASE DEFICIENCY, Amino acid, 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY, Biochemistry, MUTATIONS CAUSE, Proline, Limb Deformities, Congenital, Biology, Ssiem 2016, 03 medical and health sciences, Metabolic Diseases, GLUTAMINE-SYNTHETASE, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Amino Acid Metabolism, Inborn Errors, medicine.disease, 030104 developmental biology, chemistry, 030217 neurology & neurosurgery, Cutis laxa
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المؤلفون: Hooman Allayee, Pin Huang, Markus Perola, Jorma Viikari, Karen L. Mohlke, Jaana Hartiala, Markku Laakso, Qin Wang, Nicholas C. Woodward, Stanley L. Hazen, Marjo-Riitta Järvelin, Oliver Fiehn, Olli T. Raitakari, Janet Gukasyan, Mika Ala-Korpela, Michael Boehnke, Qiong Jia, Johannes Kettunen, Olga Anufrieva, Zeneng Wang, Yi Han, W.H. Wilson Tang, Terho Lehtimäki
المساهمون: Institute for Molecular Medicine Finland
المصدر: Jia, Q, Han, Y, Huang, P, Woodward, N C, Gukasyan, J, Kettunen, J, Ala-Korpela, M, Anufrieva, O, Wang, Q, Perola, M, Raitakari, O, Lehtimäki, T, Viikari, J, Järvelin, M R, Boehnke, M, Laakso, M, Mohlke, K L, Fiehn, O, Wang, Z, Tang, W H W, Hazen, S L, Hartiala, J A & Allayee, H 2019, ' Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease ', Journal of the American Heart Association, vol. 8, no. 10, pp. e011922 . https://doi.org/10.1161/JAHA.119.011922
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Journal of the American Heart Association, vol 8, iss 10مصطلحات موضوعية: Male, LOCI, Genome-wide association study, 030204 cardiovascular system & hematology, Cardiorespiratory Medicine and Haematology, Cardiovascular, Coronary artery disease, chemistry.chemical_compound, 0302 clinical medicine, Risk Factors, PHOSPHATIDYLCHOLINE, Choline, 2.1 Biological and endogenous factors, Aetiology, Original Research, genome‐wide association study, 0303 health sciences, CARDIOVASCULAR RISK, WOMEN, Single Nucleotide, Heart Disease, Phenotype, 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY, RARE VARIANTS, Female, Cardiology and Cardiovascular Medicine, coronary artery disease, medicine.medical_specialty, causality, CPS1, Locus (genetics), Single-nucleotide polymorphism, METABOLISM, Polymorphism, Single Nucleotide, Risk Assessment, 03 medical and health sciences, Genetic, Association Studies, Clinical Research, Internal medicine, medicine, Genetics, Mendelian randomization, Humans, Genetic Predisposition to Disease, Allele, Polymorphism, GENOME-WIDE ASSOCIATION, Heart Disease - Coronary Heart Disease, 030304 developmental biology, Nutrition, genome-wide association study, business.industry, Prevention, Meta Analysis, Human Genome, Mendelian Randomization Analysis, medicine.disease, Atherosclerosis, meta-analysis, Metabolic pathway, Endocrinology, chemistry, Genetic marker, Genetic Loci, meta‐analysis, PLASMA HOMOCYSTEINE, 3121 General medicine, internal medicine and other clinical medicine, business, Biomarkers, glycine
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d93abd7652a34dd33feb4d56163c931
http://urn.fi/urn:nbn:fi-fe2020042722654 -
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المؤلفون: Enzo Scifo, Anne-Claude Gingras, Michal Dadlez, Marc Baumann, Kristiina Uusi-Rauva, Anu Jalanko, Tapio Kesti, Jaana Tyynelä, Maciej Lalowski, Janusz Debski, Agnieszka Szwajda
المساهمون: Institute for Molecular Medicine Finland, Research Programs Unit, Haartman Institute (-2014), Department of Virology, Clinicum, Department of Biochemistry and Developmental Biology, Medicum
المصدر: Journal of Proteome Research; Vol 12
Journal of Proteome Researchمصطلحات موضوعية: Proteomics, Proteome, INTERACTION NETWORK, interactome, Biochemistry, Interactome, CLN3 disease, Chromatography, Affinity, Neuroblastoma, 0302 clinical medicine, Tandem Mass Spectrometry, MAMMALIAN-CELLS, Protein Interaction Mapping, Protein Interaction Maps, mass spectrometry, Genetics, 0303 health sciences, Arginine transport, Membrane Glycoproteins, Cell biology, Transport protein, Protein Transport, 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY, CLN3, neuronal ceroid lipofuscinoses, Spectrometry, Mass, Electrospray Ionization, ARGININE TRANSPORT, Quantitative proteomics, education, Biology, tandem affinity purification, 03 medical and health sciences, Neuronal Ceroid-Lipofuscinoses, Cell Line, Tumor, medicine, Humans, Immunoprecipitation, 030304 developmental biology, Tandem affinity purification, Molecular Sequence Annotation, General Chemistry, co-immunoprecipitation, MASS-SPECTROMETRY, NEURONAL CEROID-LIPOFUSCINOSIS, medicine.disease, SERINE BIOSYNTHESIS, HEK293 Cells, DROSOPHILA-MELANOGASTER, BATTEN-DISEASE GENE, Neuronal ceroid lipofuscinosis, 3111 Biomedicine, CAENORHABDITIS-ELEGANS, 030217 neurology & neurosurgery, Molecular Chaperones
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المؤلفون: S. N. van der Crabben, T. J. de Koning, Nanda M. Verhoeven-Duif, Turgay Coşkun, Eva H. Brilstra, Ruud Berger, L. Van Maldergem, Estela Rubio-Gozalbo
المساهمون: Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - School for Oncology and Reproduction
المصدر: Journal of Inherited Metabolic Disease, 36(4), 613-619. SPRINGER
Journal of Inherited Metabolic Disease, 36(4), 613-619. Wileyمصطلحات موضوعية: Adult, medicine.medical_specialty, Microcephaly, Neurology, ENZYME, Adolescent, Biology, PATIENT, Serine, Young Adult, chemistry.chemical_compound, Biosynthesis, CEREBROSPINAL-FLUID, Internal medicine, Genetics, medicine, Humans, AMINO-ACIDS, BIOSYNTHESIS, Phosphoserine Aminotransferase, Child, Amino Acid Metabolism, Inborn Errors, Phosphoglycerate Dehydrogenase, Transaminases, Genetics (clinical), Psychomotor retardation, MUTATIONS, Infant, Newborn, Infant, West Syndrome, Phosphoserine phosphatase, 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY, medicine.disease, Phosphoric Monoester Hydrolases, Endocrinology, 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY, chemistry, Child, Preschool, SEIZURES, Psychomotor Disorders, medicine.symptom
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المؤلفون: Yvonne J. Vos, Jaap A. Bakker, J. W. Weber, M. M. J. Blezer, Suzanna G.M. Frints, J. J. P. Schrander, M. E. Rubio-Gozalbo, Alexander P.A. Stegmann, Ctrm Schrander-Stumpel, Judith M.A. Verhagen
المساهمون: Clinical Genetics, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Klinische Neurowetenschappen, MUMC+: MA Medische Staf Kindergeneeskunde (9), Kindergeneeskunde, Ondersteunend personeel CD, MUMC+: DA Pat Cytologie (9), MUMC+: DA KG Polikliniek (9), Klinische Genetica
المصدر: European Journal of Medical Genetics, 56(3), 153-158. Elsevier Masson
European Journal of Medical Genetics, 56(3), 153-158
European journal of medical genetics, 56(3), 153-158. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 56(3), 153-158. Elsevierمصطلحات موضوعية: Male, ANOMALIES, DISORDER, musculoskeletal diseases, Pediatrics, medicine.medical_specialty, Genetic syndromes, Etiology, Neural Cell Adhesion Molecule L1, PHENOTYPE, Adducted thumb, Adducted thumbs, Genetic, Retrospective survey, Genetic etiology, Genetics, Humans, Medicine, Abnormalities, Multiple, MOLECULAR CHARACTERIZATION, Child, L1 syndrome, Genetics (clinical), Retrospective Studies, business.industry, MUTATIONS, Infant, General Medicine, SERINE BIOSYNTHESIS, MUSCULAR-DYSTROPHY, body regions, 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY, Thumb, Child, Preschool, DISTAL ARTHROGRYPOSIS, L1CAM, Mutation, Medical genetics, business, Genetic diagnosis, MENTAL-RETARDATION, Hydrocephalus
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