المؤلفون: Arianne B. Dessens, H.L. Claahsen-van der Grinten, Barto J. Otten, E. M. van Kuyk, Stenvert L. S. Drop

المساهمون: Pediatrics

المصدر: Tijdschrift voor Kindergeneeskunde, 76(3), 105-112. Bohn Stafleu van Loghum
Tijdschrift voor Kindergeneeskunde, 76, 105-112
Tijdschrift voor Kindergeneeskunde, 76, 3, pp. 105-112

مصطلحات موضوعية: Mitochondrial medicine [IGMD 8], media_common.quotation_subject, Hormonal regulation [IGMD 6], Pediatrics, Perinatology and Child Health, Determinants of Health and Disease [EBP 1], Art, Humanities, media_common

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2285c5fee6f102dbb22326681a0c220Test
https://doi.org/10.1007/bf03078188Test

المؤلفون: Cees Noordam, J. A. Noonan, R. Raaijmakers, C.J.A.M. van der Burgt, Jos M. T. Draaisma, Ellen A. Croonen

المصدر: European Journal of Pediatrics, 167, 1363-7
European Journal of Pediatrics, 167, 12, pp. 1363-7

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Health aging / healthy living [IGMD 5], Adolescent, Heart disease, Cardiomyopathy, Genomic disorders and inherited multi-system disorders [IGMD 3], Cohort Studies, Hospitals, University, Electrocardiography, Heart Conduction System, Internal medicine, Humans, Medicine, Pediatrics, Perinatology, and Child Health, cardiovascular diseases, Child, Netherlands, medicine.diagnostic_test, Endocrinology and reproduction [UMCN 5.2], business.industry, Noonan Syndrome, Infant, Newborn, Hypertrophic cardiomyopathy, Infant, Cardiomyopathy, Hypertrophic, medicine.disease, United States, Precordium, Surgery, Pulmonary Valve Stenosis, Stenosis, Mitochondrial medicine [IGMD 8], Phenotype, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Cardiology, Left axis deviation, Noonan syndrome, Female, business

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0e4b66c51f6eebfdfb7b5557899e6bTest
https://doi.org/10.1007/s00431-008-0670-9Test

المؤلفون: Leo A. H. Monnens, Lambertus P. van den Heuvel, Henk J. Blom, Martijn J. Wilmer, Henk-Jan Visch, Adriana de Graaf-Hess, Elena Levtchenko, Peter H.G.M. Willems, Sjoerd Verkaart

المصدر: Pediatric Research, 62, 151-5
Pediatric Research, 62, 2, pp. 151-5

مصطلحات موضوعية: Time Factors, Energy and redox metabolism [NCMLS 4], Cell Survival, Cystinosis, Cystine, Mitochondrion, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Metabolism, transport and motion [NCMLS 2], chemistry.chemical_compound, Adenosine Triphosphate, Translational research [ONCOL 3], Superoxides, medicine, Humans, Viability assay, Cells, Cultured, Renal disorder [IGMD 9], Skin, chemistry.chemical_classification, Reactive oxygen species, Cardiovascular diseases [NCEBP 14], Dose-Response Relationship, Drug, Superoxide, Reproducibility of Results, Fibroblasts, medicine.disease, Mitochondria, Renal disorders [UMCN 5.4], Mitochondrial medicine [IGMD 8], Amino Acid Transport Systems, Neutral, chemistry, Biochemistry, Pediatrics, Perinatology and Child Health, Sodium-Potassium-Exchanging ATPase, Cellular energy metabolism [UMCN 5.3], Lysosomes, Adenosine triphosphate, Gene Deletion, Intracellular

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63cca97493eb32e2d348a237c68dae36Test
https://doi.org/10.1203/pdr.0b013e31809fd9a7Test

المؤلفون: Leo A. H. Monnens, Elena Levtchenko, Henk J. Blom, Carin M. van Dael, Addy C. de Graaf-Hess, Martijn J. Wilmer, Lambertus P. van den Heuvel

المساهمون: Faculteit Medische Wetenschappen/UMCG

المصدر: Pediatric Nephrology, 21, 110-3
Pediatric Nephrology, 21(1), 110-113. SPRINGER
Pediatric Nephrology, 21, 1, pp. 110-3

مصطلحات موضوعية: Male, FIBROBLASTS, medicine.medical_specialty, Time Factors, Adolescent, Energy and redox metabolism [NCMLS 4], Cysteamine Bitartrate, Neutrophils, Cystine, PROTEIN, CHILDREN, compliance, THERAPY, Drug Administration Schedule, NEPHROPATHIC CYSTINOSIS, End stage renal disease, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Translational research [ONCOL 3], Nephropathic Cystinosis, Internal medicine, cysteamine, Humans, Medicine, Child, Renal disorder [IGMD 9], Cardiovascular diseases [NCEBP 14], business.industry, dose regimen, Fanconi syndrome, POLYMORPHONUCLEAR LEUKOCYTES, medicine.disease, Renal disorders [UMCN 5.4], cystinosis, Mitochondrial medicine [IGMD 8], Endocrinology, Cystinosin, chemistry, Nephrology, Pediatrics, Perinatology and Child Health, Cystinosis, Female, Cysteamine, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cbeb039fa8d3d3ca12d9bbf83ed7c84Test
https://doi.org/10.1007/s00467-005-2052-0Test

المؤلفون: Guido J. Breedveld, Bert B.A. de Vries, Siep Wouda, Martin Lammens, Michèl A.A.P. Willemsen, Barto J. Otten, Jan L. Yntema

المساهمون: Clinical Genetics

المصدر: European Journal of Pediatrics, 164, 28-30
European Journal of Pediatrics, 164(1), 28-30. Springer-Verlag
European Journal of Pediatrics, 164, 1, pp. 28-30

مصطلحات موضوعية: Adult, Male, Thyroid Nuclear Factor 1, Pediatrics, medicine.medical_specialty, Pathology, Pulmonary Alveolar Proteinosis, Gene mutation, Genomic disorders and inherited multi-system disorders [IGMD 3], Fatal Outcome, Benign hereditary chorea, Hypothyroidism, Intellectual Disability, Perception and Action [DCN 1], medicine, Humans, Abnormalities, Multiple, Lung cancer, Renal disorder [IGMD 9], Molecular diagnosis, prognosis and monitoring [UMCN 1.2], Endocrinology and reproduction [UMCN 5.2], business.industry, Hormonal regulation [IGMD 6], Primary hypothyroidism, Nuclear Proteins, Chorea, Syndrome, medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Hypotonia, Mitochondrial medicine [IGMD 8], Genetic defects of metabolism [UMCN 5.1], Mutation, Pediatrics, Perinatology and Child Health, medicine.symptom, Pulmonary alveolar proteinosis, business, Functional Neurogenomics [DCN 2], Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9d1c20961a21b72b7f2ddf5021929c7Test
https://doi.org/10.1007/s00431-004-1559-xTest

المؤلفون: Bas E. Dutilh, Brigitte Boxma, Theo A. van Alen, Martijn A. Huynen, Isabel Duarte, Laura F. Landweber, Angela H. A. M. van Hoek, Johannes H. P. Hackstein, Guenola Ricard, Georg W.M. van der Staay, Wei-Jen Chang, Seung Yeo Moon-van der Staay, Rob M. de Graaf

المصدر: BMC Genomics, 9, 1, pp. 587-587
BMC Genomics
BMC Genomics, 9, 587-587
BMC Genomics, Vol 9, Iss 1, p 587 (2008)

مصطلحات موضوعية: lcsh:QH426-470, Energy and redox metabolism [NCMLS 4], lcsh:Biotechnology, Oxytricha, Chromosomes, Evolution, Molecular, Metabolism, transport and motion [NCMLS 2], lcsh:TP248.13-248.65, Macronucleus, Evolutionary Microbiology, Genetics, Animals, Ciliophora, Gene, Phylogeny, Polytene chromosome, biology, Intron, Chromosome, Telomere, biology.organism_classification, Introns, lcsh:Genetics, Mitochondrial medicine [IGMD 8], Stylonychia, Ecological Microbiology, Transfer RNA, Databases, Nucleic Acid, Cellular energy metabolism [UMCN 5.3], Genome, Protozoan, Research Article, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdae8f87750683262fc3ba66707a8adbTest
https://doi.org/10.1186/1471-2164-9-587Test