نتائج البحث - "HEREDITARY"

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Lifestyle Medicine (LM), Graduate School, ACS - Atherosclerosis & ischemic syndromes, Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology Endocrinology Metabolism, APH - Global Health, APH - Methodology, APH - Quality of Care, Experimental Vascular Medicine, ACS - Diabetes & metabolism, AGEM - Digestive immunity, AGEM - Endocrinology, metabolism and nutrition, Vascular Medicine, VU University Medical Center [Amsterdam], Vrije Universiteit Brussel (VUB), Radboud University Medical Center [Nijmegen], Medizinische Universität Wien = Medical University of Vienna, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University Medical Center Groningen [Groningen] (UMCG), Faculty of Medicine and Pharmacy, Psychiatry, Applied Mechanics, Robotics & Multibody Mechanics Research Group

المصدر: Journal of Inherited Metabolic Disease, 43(3), 611-617. SPRINGER
Journal of Inherited Metabolic Disease
Journal of inherited metabolic disease, 43(3), 611-617. Springer Netherlands
Journal of Inherited Metabolic Disease, 43, 3, pp. 611-617
Journal of Inherited Metabolic Disease, Springer Verlag, 2020, 43 (3), pp.611-617. ⟨10.1002/jimd.12200⟩
Journal of Inherited Metabolic Disease, 43, 611-617

مصطلحات موضوعية: Male, Endothelial lipase, B4GALT1, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Genetics(clinical), Child, Genetics (clinical), RISK, 0303 health sciences, PLASMA, biology, medicine.diagnostic_test, Protein galactosylation, CHOLESTEROL, Homozygote, 030305 genetics & heredity, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Galactosyltransferases, 3. Good health, DEFICIENCY, Child, Preschool, Female, Original Article, lipids (amino acids, peptides, and proteins), congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Glycosylation, Adolescent, glycosylation, HDL, CONGENITAL DISORDERS, LDL, lipids, LIPOPROTEINS, 03 medical and health sciences, Western blot, Internal medicine, CETP, Cholesterylester transfer protein, Genetics, medicine, Humans, 030304 developmental biology, Cholesterol, Cholesterol, HDL, Infant, Lipid metabolism, Cholesterol, LDL, Original Articles, Cholesterol Ester Transfer Proteins, carbohydrates (lipids), ENDOTHELIAL LIPASE, Endocrinology, chemistry, Case-Control Studies, Mutation, biology.protein, CDG, GOLGI HOMEOSTASIS, Lipoprotein

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c05bc7236acfdb833b9af75cdd32665Test
https://doi.org/10.1002/jimd.12200Test

8

Variant frequencies of KCNQ1 , KCNH2 , and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing

المؤلفون: Nian Liu, Rong Bai, Xin Li

المصدر: Annals of Human Genetics. 84:161-168

مصطلحات موضوعية: ERG1 Potassium Channel, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Long QT syndrome, Disease, NAV1.5 Voltage-Gated Sodium Channel, Cohort Studies, 03 medical and health sciences, Epilepsy, Asian People, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Clinical significance, Genetic Testing, Genetics (clinical), 030304 developmental biology, Brugada syndrome, Genetic testing, 0303 health sciences, medicine.diagnostic_test, business.industry, 030305 genetics & heredity, Arrhythmias, Cardiac, medicine.disease, Minor allele frequency, Case-Control Studies, KCNQ1 Potassium Channel, Mutation, Cohort, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::921d409319d66cf05bf897afd06b87ceTest
https://doi.org/10.1111/ahg.12359Test

9

ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

المؤلفون: Klaus Brusgaard, Lilian Bomme Ousager, Anette Drøhse Kjeldsen, Pernille Mathiesen Tørring

المصدر: Tørring, P M, Kjeldsen, A D, Ousager, L B & Brusgaard, K 2018, ' ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia ', Molecular Genetics & Genomic Medicine, vol. 6, no. 1, pp. 121-125 . https://doi.org/10.1002/mgg3.361Test
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Adult, 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Buccal swab, Biology, medicine.disease_cause, Clinical Reports, HHT, genetic testing, Telangiectasia, Hereditary Hemorrhagic/genetics, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Journal Article, otorhinolaryngologic diseases, Genetics, medicine, hereditary hemorrhagic telangiectasia, Humans, Activin Receptors, Type II/genetics, Frameshift Mutation, Molecular Biology, Genetics (clinical), Aged, Genetic testing, Sanger sequencing, Mutation, Clinical Report, Base Sequence, medicine.diagnostic_test, Mosaicism, mutational mosaicism, Endoglin/genetics, Genetic disorder, ACVRL1, Exons, medicine.disease, Pedigree, ENG, mosaicism, 030104 developmental biology, Smad4 Protein/genetics, symbols, Female, mosaic

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22438a3d54affb2db0f550d6859b09feTest
https://doi.org/10.1002/mgg3.361Test

10

Fetal cardiac tumor: echocardiography, clinical outcome and genetic analysis in 53 cases

المؤلفون: Lu Han, Xiangtong Liu, Henghui Zhang, Y. Zhang, H. Sun, Xiaoyan Gu, X. Hao, Yuwei Fu, J. Chen, Yuzhu He, Jingyu Wang

المصدر: Ultrasound in Obstetrics & Gynecology. 54:103-109

مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Genetic Counseling, Gestational Age, Autopsy, Heart Neoplasms, Hemangioma, 03 medical and health sciences, Tuberous sclerosis, Fetal Heart, 0302 clinical medicine, Pregnancy, Tuberous Sclerosis, Prenatal Diagnosis, medicine, Humans, Radiology, Nuclear Medicine and imaging, Genetic Testing, 030212 general & internal medicine, reproductive and urinary physiology, Genetic testing, Fetus, 030219 obstetrics & reproductive medicine, Radiological and Ultrasound Technology, medicine.diagnostic_test, Obstetrics, business.industry, Infant, Obstetrics and Gynecology, General Medicine, Rhabdomyoma, medicine.disease, Fetal Diseases, Reproductive Medicine, Echocardiography, Mutation, embryonic structures, Female, Fibroma, business, Fetal echocardiography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c596fafc54674ecc3f0f35f9c15f942Test
https://doi.org/10.1002/uog.19108Test

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