المؤلفون: Koene, S.^Aff3, Jimenez-Moreno, C.^Aff4, Gorman, G. S.^Aff4

المساهمون: Mancuso, Michelangelo, editor^Aff1, Klopstock, Thomas, editor^Aff2

المصدر: Diagnosis and Management of Mitochondrial Disorders. :317-329

المؤلفون: Olde Keizer, Richelle A.C.M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, M., Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J.C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, W. P., van Zelst-Stams, W., Frederix, Geert W.J., Vissers, L. E.L.M., Henneman, L., van Haelst, M. M., Sistermans, E. A., Cornel, M. C., Misra-Isrie, M., Mannens, M. M.A.M., Waisfisz, Q., van Hagen, J. M., Brooks, A. S., Barakat, T. S., Hoefsloot, E. H., van Lingen, R. A., Ruivenkamp, C. A.L., Koene, S., Rutten, J. W., de Koning, B., Stevens, S. J.C., van den Wijngaard, A., Stegmann, A. P.A., Deden, A. C., Rodenburg, W., Sinke, R. J., van der Velde, K. J., de Vries, L. S., Frederix, G. W.J., Oegema, R.

المساهمون: Clinical Genetics, Pediatric Surgery, Radiology & Nuclear Medicine, Internal Medicine, Department of Finance, Cell biology, Cardiothoracic Surgery, Molecular Genetics, Pathology, Erasmus School of Law, Health Economics (HE)

المصدر: European Journal of Pediatrics. Springer-Verlag

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::afa0a389c2188bae2fdfdb912053777e
https://pure.eur.nl/en/publications/332deff0-c7c2-4a97-938a-ef7ebdefafe3

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المؤلفون: Koene, S., Timmermans, J., Weijers, G., de Laat, P., de Korte, C. L., Smeitink, J. A. M., Janssen, M. C. H., Kapusta, L.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. March 2017 40(2):247-259

المؤلفون: Koene, S., Klerx-Melis, F., Roest, A.A.W., Kleijwegt, M.C., Bootsma, M., Haak, M.C., Haeringen, M.H. van, Ruivenkamp, C.A.L., Nibbeling, E.A.R., Haeringen, A. van

المصدر: American Journal of Medical Genetics Part A, 188(12), 3510-3515. WILEY

مصطلحات موضوعية: Genetics, carpal fusion, skeletal dysplasia, cardiomyopathy, Genetics (clinical), caudal appendage, TAB2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::030e78ac1cf5f927cbc06968e32e30be
http://hdl.handle.net/1887/3515795

المؤلفون: Vezyroglou, A, Akilapa, R, Barwick, K, Koene, S, Brownstein, CA, Holder-Espinasse, M, Fry, AE, Nemeth, AH, Tofaris, GK, Hay, E, Hughes, I, Mansour, S, Mordekar, SR, Splitt, M, Turnpenny, PD, Demetriou, D, Koopmann, TT, Ruivenkamp, CAL, Agrawal, PB, Carr, L, Clowes, V, Ghali, N, Holder, SE, Radley, J, Male, A, Sisodiya, SM, Kurian, MA, Cross, JH, Balasubramanian, M

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::996ef6e7e37fd1fd72b27e880a1c15b0

المؤلفون: Lauffer, P., Boudin, E., Kaay, D.C.M. van der, Koene, S., Haeringen, A. van, Tellingen, V. van, Hul, W. van, Prickett, T.C.R., Mortier, G., Espiner, E.A., Duyvenvoorde, H.A. van

المساهمون: Pediatrics, Graduate School, Paediatric Endocrinology, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Paediatrics

المصدر: Journal of the Endocrine Society
Journal of the Endocrine Society, 6(4):bvac019. Endocrine Society
Journal of the Endocrine Society, 6(4). ENDOCRINE SOC

مصطلحات موضوعية: Science & Technology, ATRIAL-NATRIURETIC-PEPTIDE, CLEARANCE, Endocrinology, Diabetes and Metabolism, OVERGROWTH, CHILDREN, macrodactyly, GENE, tall stature, TRANSLOCATION, Endocrinology & Metabolism, AMINO-TERMINAL PROPEPTIDE, SDG 3 - Good Health and Well-being, CNP, GROWTH, Human medicine, natriuretic peptide receptor-C, NPR3, OVEREXPRESSION, natriuretic peptides, Life Sciences & Biomedicine, HETEROZYGOUS MUTATIONS

وصف الملف: Electronic-eCollection; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a3c39cd89a2a4105d9aacdfc4fbe0f4
https://lirias.kuleuven.be/handle/20.500.12942/696061

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المؤلفون: Koene, S., Knijnenburg, J., Hoffer, M.J.V., Zwanenburg, F., Haak, M.C., Locher, H., Beelen, E.S.A. van, Santen, G.W.E., Rotteveel, L.J.C.

المصدر: The American Journal of Medical Genetics-Part A, 188A, 1578-1582. WILEY

مصطلحات موضوعية: congenital abnormalities, X-linked inheritance, Genetics, AMMECR1, Genetics (clinical), sensorineural hearing loss

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::544b759c8c85854b9d3fd600a4f8cd29
https://hdl.handle.net/1887/3515768

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