المؤلفون: Marie-Louise C S de Sonnaville, Jacquelien J. Hillebrand, Mark R. Garrelfs, A S Paul van Trotsenburg, Hennie Bikker, Peter Lauffer, Nitash Zwaveling-Soonawala

المساهمون: Graduate School, Paediatric Pulmonology, Paediatric Endocrinology, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Human Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), General Paediatrics, Laboratory for Endocrinology, Amsterdam Neuroscience - Complex Trait Genetics

المصدر: Thyroid, 31(11), 1757-1762. Mary Ann Liebert Inc.

مصطلحات موضوعية: Thyroid Hormone Resistance Syndrome, Sodium-iodide symporter, endocrine system, medicine.medical_specialty, Turkey, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Levothyroxine, Consanguinity, Endocrinology, Internal medicine, Thyroid Hormone Resistance Syndrome/genetics, Thyroxine/therapeutic use, Congenital Hypothyroidism, medicine, Thyroid Hormone Receptors beta/genetics, Humans, Child, Preschool, Thyroid hormone receptor, Symporters, business.industry, Thyroid, Thyroid Hormone Receptors beta, Normal thyroid, medicine.disease, Pedigree, Congenital hypothyroidism, Thyroxine, medicine.anatomical_structure, Child, Preschool, Congenital Hypothyroidism/drug therapy, Female, business, hormones, hormone substitutes, and hormone antagonists, Hormone, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d042e81ac0a09705a62577d4fdee64
https://doi.org/10.1089/thy.2021.0204

المؤلفون: F. Cialdella, S. David, D.E. Bruil, S.H. Nagtegaal, A.T. van der Boog, S. de Sonnaville, F. de Vos, J.J. Verhoeff

المصدر: Radiotherapy and Oncology. 170:S634-S635

مصطلحات موضوعية: Oncology, Radiology, Nuclear Medicine and imaging, Hematology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5640537e8665ab10aab3275b94cfdca4
https://doi.org/10.1016/s0167-8140(22)02422-7

المؤلفون: D. Bruil, Joost J.C. Verhoeff, S. Nagtegaal, S. de Sonnaville, Szabolcs David

مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, medicine.medical_treatment, Brain tumor, Subventricular zone, medicine.disease, Subgranular zone, Radiation therapy, medicine.anatomical_structure, Tumor progression, Glioma, Internal medicine, medicine, Stem cell, business, Prospective cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cfd3b60c7bd5041034aac68ff3626825
https://doi.org/10.1101/2021.08.17.21262102

المؤلفون: C.E.M. Hollak, Wouter Meersseman, Eva Morava, M. F. Mulder, Dirk J. Lefeber, Frits A. Wijburg, Johannes M. F. G. Aerts, David Cassiman, Gepke Visser, E S de Sonnaville, Erik M. Akkerman, Ben J. H. M. Poorthuis, Marcel M.A.M. Mannens, K. E. Niezen-Koning, Ron A. Wevers, Gabor E. Linthorst, Johanna E. M. Groener

المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM), Pediatric surgery, CCA - Innovative therapy, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology, Medical Biochemistry, ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, Human Genetics, ANS - Amsterdam Neuroscience, Radiology and Nuclear Medicine, Paediatric Metabolic Diseases

المصدر: Molecular Genetics and Metabolism, 107, 3, pp. 526-33
Molecular Genetics and Metabolism, 107(3), 526-533. ACADEMIC PRESS INC ELSEVIER SCIENCE
Hollak, C E M, de Sonnaville, E S V, Cassiman, D, Linthorst, G E, Groener, J E, Morava, E, Wevers, R A, Mannens, M, Aerts, J M F G, Meersseman, W, Akkerman, E, Niezen-Koning, K E, Mulder, M F, Visser, G, Wijburg, A, Lefeber, D & Poorthuis, B J H M 2012, ' Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients ', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 526-533 . https://doi.org/10.1016/j.ymgme.2012.06.015
Molecular Genetics and Metabolism, 107(3), 526-533. Academic Press Inc.
Molecular genetics and metabolism, 107(3), 526-533. Academic Press Inc.
Molecular Genetics and Metabolism, 107, 526-33

مصطلحات موضوعية: Male, Pathology, NIEMANN-PICK-DISEASE, Endocrinology, Diabetes and Metabolism, Compound heterozygosity, Biochemistry, Gastroenterology, Severity of Illness Index, Pulmonary function testing, GAUCHER-DISEASE, Endocrinology, Belgium, Prospective Studies, Child, Lung, Netherlands, Niemann-Pick disease type B, Enzyme replacement therapy, Niemann-Pick Disease, Type B, Middle Aged, Niemann-Pick Disease, Type A, INTERMEDIATE PHENOTYPE, Respiratory Function Tests, PREVALENCE, medicine.anatomical_structure, Sphingomyelin Phosphodiesterase, Child, Preschool, Female, Niemann–Pick disease, Hepatomegaly, Adult, medicine.medical_specialty, Adolescent, Anemia, DISORDERS, BONE-MARROW, Genomic disorders and inherited multi-system disorders [IGMD 3], Internal medicine, Genetics, medicine, Humans, CHITOTRIOSIDASE, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, DCN NN - Brain networks and neuronal communication, Retrospective Studies, Cytopenia, business.industry, MUTATIONS, Infant, Glycostation disorders [IGMD 4], medicine.disease, Quantitative chemical shift imaging, Mutation, Splenomegaly, Acid sphingomyelinase (ASM) deficiency, Bone marrow, Pulmonary disease, business, Tomography, X-Ray Computed, Visceromegaly, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cffb6f2735ad337822712453fbd80ce
https://doi.org/10.1016/j.ymgme.2012.06.015

المؤلفون: M. L. C. S. De Sonnaville-De Roy Van Zuidewijn, W. F. Tan, B. Reedijk, R. W. Koot

المصدر: Obstetrics & Gynecology. 93:857

مصطلحات موضوعية: Fetal monitoring, Pathology, medicine.medical_specialty, business.industry, Neonatal brain, Obstetrics and Gynecology, Medicine, business, Abscess, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::89b5cac2d43c669fdbb3af76bdb2a300
https://doi.org/10.1097/00006250-199905001-00036

المؤلفون: M. L. C. S. De Sonnaville-De Roy Van Zuidewijn, B. Reedijk, W. F. Tan, R. W. Koot

المصدر: Obstetrics & Gynecology. 93:857

مصطلحات موضوعية: Adult, medicine.medical_specialty, Scalp, business.industry, Infant, Newborn, Brain Abscess, Obstetrics and Gynecology, Staphylococcal Infections, medicine.disease, Surgery, Fetal monitoring, Pregnancy, Anesthesia, medicine, Neonatal brain, Humans, Female, Fetal Monitoring, Tomography, X-Ray Computed, Abscess, Complication, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ccf73a200cd5330ff1a3c477c148f53
https://doi.org/10.1016/s0029-7844(98)00372-x

المؤلفون: Koot, R. W., Reedijk, B., Tan, W. F., Zuidewijn, M. L. C. S. De Sonnaville-De Roy Van

المصدر: Obstetrics & Gynecology (Ovid); May 1999, Vol. 93 Issue: Supplement 5 p857-857, 1p