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المصدر: American Journal of Medical Genetics. Part A, 173, 2968-2972
American Journal of Medical Genetics. Part A, 173, 11, pp. 2968-2972مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, 0301 basic medicine, Heterozygote, Adolescent, Biology, Short stature, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Young Adult, 03 medical and health sciences, Genetics, medicine, Humans, Child, Gene, Genetic Association Studies, Genetics (clinical), Aged, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Pathogenic mutation, Noonan Syndrome, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], Middle Aged, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, Mutation, Mutation (genetic algorithm), SOS1, Noonan syndrome, Variable phenotypic expression, Female, medicine.symptom, SOS1 Protein
وصف الملف: application/pdf
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المؤلفون: Jos M. T. Draaisma, Marlou Essink, Mirjam Harmsen, Ineke van der Burgt, Ellen A. Croonen, Kees Noordam, Maria W.G. Nijhuis-van der Sanden
المصدر: American Journal of Medical Genetics. Part A, 170, 9, pp. 2349-56
American Journal of Medical Genetics. Part A, 170, 2349-56مصطلحات موضوعية: 0301 basic medicine, Adult, Male, musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, animal structures, Adolescent, Cousin, Psychological intervention, Pain, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Interviews as Topic, 03 medical and health sciences, 0302 clinical medicine, Cognition, Intervention (counseling), Genetics, medicine, Humans, Family, Muscle Strength, cardiovascular diseases, Psychiatry, Child, skin and connective tissue diseases, Genetics (clinical), Fatigue, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Perspective (graphical), Noonan Syndrome, Infant, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], Focus Groups, Middle Aged, medicine.disease, Focus group, 030104 developmental biology, Phenotype, lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], Child, Preschool, Muscle strength, Noonan syndrome, Female, Perception, Psychology, 030217 neurology & neurosurgery, Psychomotor Performance
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المؤلفون: Kees Noordam, Machiel Maseland, Stan J. F. Hartman, Petra van Setten
المصدر: ResearcherID
Clinical Pediatric Endocrinology
Clinical Pediatric Endocrinology, 26, 171-175
Clinical Pediatric Endocrinology, 26, 3, pp. 171-175مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Levothyroxine, Case Report, Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Endocrinology, intoxication, 030225 pediatrics, medicine, Ingestion, thyroxine, business.industry, digestive, oral, and skin physiology, Thyroid, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], 030208 emergency & critical care medicine, Short interval, medicine.anatomical_structure, Anesthesia, Pediatrics, Perinatology and Child Health, side-effects, Renal disorders Radboud Institute for Health Sciences [Radboudumc 11], Presentation (obstetrics), overdose, Corrigendum, business, Hormone, medicine.drug
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b47ec30d5e6ee472995cffd79513500f
https://doi.org/10.1297/cpe.26.171 -
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المؤلفون: Stan J. F. Hartman, Kees Noordam, Machiel Maseland, Petra van Setten
المصدر: Clinical Pediatric Endocrinology. 29:47-47
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Levothyroxine, medicine, business, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::db83d1038e1cc9ed3cf85ce9fe842e62
https://doi.org/10.1297/cpe.29.47 -
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المؤلفون: Erik A. K. Wauters, Kees Noordam
المصدر: Kinderfysiotherapie ISBN: 9789036815918
KinderfysiotherapieURL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::67be5a474d69dca52be19be7f1e285dd
https://doi.org/10.1007/978-90-368-1592-5_6 -
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المؤلفون: Ronald H. M. A. Bartels, Kees Noordam, Erik J. van Lindert
المصدر: Pediatric Neurosurgery. 44:337-340
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Spinal stenosis, medicine.medical_treatment, General Medicine, Spinal canal stenosis, medicine.disease, Laminoplasty, Spinal column, Surgery, Myelopathy, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, medicine, Spinal canal, Pseudopseudohypoparathyroidism, Neurology (clinical), business, Pseudohypoparathyroidism
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المؤلفون: Alex J. Eggink, Ineke van der Burgt, Bregje W.M. van Bon, T.A.J. Antonius, Arno van Heijst, Kees Noordam
المصدر: American Journal of Medical Genetics. Part A, 146A, 496-9
American Journal of Medical Genetics. Part A, 146A, 4, pp. 496-9مصطلحات موضوعية: Male, medicine.medical_specialty, Denys–Drash syndrome, congenital, hereditary, and neonatal diseases and abnormalities, Health aging / healthy living [IGMD 5], Genes, Wilms Tumor, Arginine, Gastroenterology, Genomic disorders and inherited multi-system disorders [IGMD 3], Pulmonary hypoplasia, Fatal Outcome, Germline mutation, Internal medicine, Genetics, Humans, Point Mutation, Medicine, Histidine, Diaphragmatic hernia, Genetics (clinical), Hernia, Diaphragmatic, Lung, Endocrinology and reproduction [UMCN 5.2], business.industry, fungi, Effective Hospital Care [EBP 2], Infant, Newborn, Congenital diaphragmatic hernia, Functional imaging [IGMD 1], Nutrition and Health [UMCN 5.5], Denys-Drash Syndrome, medicine.disease, Pulmonary hypertension, Diaphragm (structural system), Human Reproduction [NCEBP 12], Mitochondrial medicine [IGMD 8], medicine.anatomical_structure, Endocrinology, Genetic defects of metabolism [UMCN 5.1], Female, Hernias, Diaphragmatic, Congenital, business, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
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المصدر: Journal of Clinical Endocrinology and Metabolism, 91, 4, pp. 1205-9
Journal of Clinical Endocrinology and Metabolism, 91, 1205-9مصطلحات موضوعية: Male, medicine.medical_specialty, Health aging / healthy living [IGMD 5], Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Context (language use), Growth, Biochemistry, Endocrinology, Interventional oncology [UMCN 1.5], Adrenal Cortex Hormones, Internal medicine, Birth Weight, Humans, Medicine, Congenital adrenal hyperplasia, Child, Retrospective Studies, Bone Development, Adrenal Hyperplasia, Congenital, Endocrinology and reproduction [UMCN 5.2], business.industry, Hormonal regulation [IGMD 6], Biochemistry (medical), Effective Hospital Care [EBP 2], Infant, Retrospective cohort study, Bone age, medicine.disease, Body Height, Confidence interval, Accelerated Growth, Mitochondrial medicine [IGMD 8], El Niño, Evaluation of complex medical interventions [NCEBP 2], Child, Preschool, Androgens, Linear Models, Bone maturation, Female, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32244ad8a608199f14ae53e6ace6f60c
https://doi.org/10.1210/jc.2005-1701 -
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المؤلفون: Marco Tartaglia, Willy M. Nillesen, Michael A. Patton, Esther M. Maier, Ineke van der Burgt, Erik A. Sistermans, Kees Noordam, Marjolijn C.J. Jongmans, Rienk Y. J. Tamminga, Alwin Rikken
المصدر: Jongmans, M, Sistermans, E A, Rikken, A, Nillesen, W M, Tamminga, R, Patton, M, Maier, E M, Tartaglia, M, Noordam, K & Van Der Burgt, I 2005, ' Genotypic and phenotypic characterization of Noonan syndrome : New data and review of the literature ', American Journal of Medical Genetics, vol. 134 A, no. 2, pp. 165-170 . https://doi.org/10.1002/ajmg.a.30598
مصطلحات موضوعية: Adult, Male, LEUKEMOGENESIS, medicine.medical_specialty, TURNER-PHENOTYPE, SH2 Domain-Containing Protein Tyrosine Phosphatases, Genotype, TYROSINE-PHOSPHATASE SHP-2, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Biology, PTPN11, Gastroenterology, Short stature, src Homology Domains, juvenile myelomonocytic leukemia (JMML), Gene Frequency, C-SH2 domain, Internal medicine, Genetics, medicine, Humans, Missense mutation, Noonan syndrome, HETEROGENEITY, JUVENILE MYELOMONOCYTIC LEUKEMIA, Child, Genetics (clinical), Chromosome 12, SPECTRUM, Juvenile myelomonocytic leukemia, Intracellular Signaling Peptides and Proteins, medicine.disease, Osteochondrodysplasia, GENE, Review Literature as Topic, Phenotype, Mutation, Mutation (genetic algorithm), Female, PTPN11 MUTATIONS, Protein Tyrosine Phosphatases, medicine.symptom
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المصدر: Hormone Research, 62 Suppl 3, 3, pp. 56-9
Hormone Research, 62 Suppl 3, 56-9مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Guanine, SH2 Domain-Containing Protein Tyrosine Phosphatases, animal structures, Genotype, Endocrinology, Diabetes and Metabolism, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Protein tyrosine phosphatase, Biology, Short stature, src Homology Domains, Cytosine, Exon, Endocrinology, medicine, Humans, Child, skin and connective tissue diseases, Genetics, Endocrinology and reproduction [UMCN 5.2], Adenine, Noonan Syndrome, Intracellular Signaling Peptides and Proteins, Genetic Variation, Infant, Exons, medicine.disease, PTPN11, Phenotype, Genetic defects of metabolism [UMCN 5.1], Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation testing, Noonan syndrome, Female, Protein Tyrosine Phosphatases, medicine.symptom, Thymine
