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1دورية أكاديمية
المؤلفون: M. M. Hitzert, S. N. van der Crabben, G. Baldewsingh, H. K. Ploos van Amstel, A. van den Wijngaard, C. M. A. van Ravenswaaij-Arts, C. W. R. Zijlmans
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
مصطلحات موضوعية: Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24 gene, Suriname, Diagnostic criteria, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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المؤلفون: H K Ploos van Amstel, C.M.A. van Ravenswaaij-Arts, M M Hitzert, G Baldewsingh, S. N. van der Crabben, A. van den Wijngaard, C W R Zijlmans
المساهمون: MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Human Genetics, Clinical Cognitive Neuropsychiatry Research Program (CCNP)
المصدر: Orphanet Journal of Rare Diseases, 14(1):294. BioMed Central Ltd
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 14(1):294. BioMed Central
Orphanet journal of rare diseases, 14(1):294. BMCمصطلحات موضوعية: Premature aging, Adult, Male, medicine.medical_specialty, Diagnostic criteria, Adolescent, lcsh:Medicine, Compound heterozygosity, Short stature, PROGERIA, Craniofacial Abnormalities, Young Adult, ZMPSTE24 gene, medicine, Missense mutation, Humans, Pharmacology (medical), Child, Lipoatrophy, Genetics (clinical), LMNA MUTATION, LIPODYSTROPHY, Suriname, business.industry, Research, Homozygote, lcsh:R, Membrane Proteins, Metalloendopeptidases, General Medicine, medicine.disease, Mandibuloacral dysplasia with type B lipodystrophy, Dermatology, Hypoplasia, Pedigree, Mandibuloacral dysplasia, Phenotype, Child, Preschool, Mutation, Female, METALLOPROTEINASE, Lipodystrophy, medicine.symptom, business
وصف الملف: application/pdf
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3دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
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المؤلفون: H. K. Ploos van Amstel, D. E. Fransen van de Putte, Roger E. G. Schutgens, M. Spoor, Evelien P. Mauser-Bunschoten
المصدر: Journal of Thrombosis and Haemostasis. 11:2179-2181
مصطلحات موضوعية: medicine.medical_specialty, Factor VIII, business.industry, Hematology, Hemophilia A, Gastroenterology, Mild hemophilia A, Internal medicine, Mutation, Mutation (genetic algorithm), Serine, medicine, Humans, Deamino Arginine Vasopressin, In patient, Asparagine, Desmopressin, business, medicine.drug
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المؤلفون: L J, Spaapen, J A, Bakker, C, Velter, W, Loots, M E, Rubio-Gozalbo, P P, Forget, L, Dorland, T J, De Koning, B T, Poll-The, H K, Ploos van Amstel, J, Bekhof, N, Blau, M, Duran, M E, Rubio-Gonzalbo
المساهمون: Other departments, Klinische Genetica, Kindergeneeskunde, RS: NUTRIM School of Nutrition and Translational Research in Metabolism
المصدر: Journal of inherited metabolic disease, 24(3), 352-358. Springer Netherlands
Journal of Inherited Metabolic Disease, 24(3), 352-358. Wileyمصطلحات موضوعية: medicine.medical_specialty, Phenylalanine hydroxylase, Phenylalanine, Metabolite, DNA Mutational Analysis, Biopterin, Diagnosis, Differential, chemistry.chemical_compound, Hyperphenylalaninemia, Dihydropteridine Reductase, Internal medicine, Genetics, medicine, Humans, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Netherlands, chemistry.chemical_classification, biology, Infant, Newborn, Phenylalanine Hydroxylase, Tetrahydrobiopterin, medicine.disease, Pterins, Kinetics, Enzyme, Endocrinology, chemistry, Mutation, biology.protein, Female, medicine.drug
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المؤلفون: Frank J.M. Broekmans, Y. T. van der Schouw, Marlies Voorhuis, Bart C.J.M. Fauser, H. K. Ploos van Amstel, N. C. Onland-Moret
المصدر: Human reproduction (Oxford, England). 28(2)
مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Population, Biology, Polymerase Chain Reaction, Follicle-stimulating hormone, Fragile X Mental Retardation Protein, Trinucleotide Repeats, Internal medicine, medicine, Humans, Allele, education, education.field_of_study, Analysis of Variance, Rehabilitation, Age Factors, Obstetrics and Gynecology, Anti-Müllerian hormone, Sequence Analysis, DNA, Middle Aged, medicine.disease, FMR1, nervous system diseases, Premature ovarian failure, Menopause, Endocrinology, Cross-Sectional Studies, Reproductive Medicine, biology.protein, Linear Models, Female, Folliculogenesis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0973f675db31dfb0daac52ac05d365f9
https://pubmed.ncbi.nlm.nih.gov/23154068 -
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المؤلفون: Joost F. Swart, P van Zon, H-K Ploos van Amstel, M. E. van Gijn, Joost Frenkel, A van Royen-Kerkhof, W Harts, Martin G Elferink, Anna Simon
المصدر: Pediatric Rheumatology Online Journal
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Hereditary Autoinflammatory Diseases, food and beverages, Treatment options, Systemic inflammation, Perinatology, and Child Health, Rheumatology, Targeted ngs, Pediatrics, Perinatology and Child Health, Poster Presentation, Medicine, Immunology and Allergy, Disorder screening, Pediatrics, Perinatology, and Child Health, medicine.symptom, business, Genetic diagnosis
وصف الملف: image/pdf
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المؤلفون: J F, Roijers, M J, de Wit, R B, van der Luijt, H K, Ploos van Amstel, J W, Höppener, C J, Lips
المصدر: European journal of clinical investigation. 30(6)
مصطلحات موضوعية: Adult, Family Health, Male, DNA Mutational Analysis, DNA, Neoplasm, Exons, Middle Aged, Introns, Multiple Endocrine Neoplasia Type 1, Humans, Female, Genetic Testing, RNA, Neoplasm, Germ-Line Mutation, Aged
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المؤلفون: J. Gajda, Roderick H. J. Houwen, H. K. Ploos van Amstel, Anna Członkowska, M. Rodo, J. Juyn
المصدر: Journal of neurology. 244(9)
مصطلحات موضوعية: Adult, medicine.medical_specialty, Pediatrics, Neurology, Adolescent, business.industry, Very high frequency, Disease, Amino Acid Substitution, Hepatolenticular Degeneration, Mutation (genetic algorithm), medicine, Humans, Point Mutation, Histidine, Neurology (clinical), Poland, business, Neuroradiology
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المؤلفون: A, Mustonen, H K, Ploos van Amstel, R, Berger, M K, Salo, L, Viinikka, K O, Simola
المصدر: Prenatal diagnosis. 17(10)
مصطلحات موضوعية: Male, Heterozygote, Chorionic Villi Sampling, Hydrolases, Mutation, Humans, Infant, Tyrosine, Amino Acid Metabolism, Inborn Errors, Liver Failure