Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Marlies JE Kempers"'
Autor:
Ingrid M.B.H. van de Laar, Annette F. Baas, Julie De Backer, Jan D. Blankenstein, Eelco Dulfer, Apollonia T.J.M. Helderman-van den Enden, Arjan C. Houweling, Marlies JE. Kempers, Bart Loeys, Fransiska Malfait, Leema Robert, George Tanteles, Michael Frank
Publikováno v:
van de Laar, I M B H, Baas, A F, de Backer, J, Blankenstein, J D, Dulfer, E, Helderman-van den Enden, A T J M, Houweling, A C, Kempers, M J E, Loeys, B, Malfait, F, Robert, L, Tanteles, G & Frank, M 2022, ' Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN) ', European Journal of Medical Genetics, vol. 65, no. 9, 104557 . https://doi.org/10.1016/j.ejmg.2022.104557
European Journal of Medical Genetics, 65(9):104557. Elsevier Masson
European journal of medical genetics, 65(9):104557. ELSEVIER SCIENCE BV
EUROPEAN JOURNAL OF MEDICAL GENETICS
European Journal of Medical Genetics, 65(9):104557. Elsevier Masson SAS
European Journal of Medical Genetics, 65, 9
European Journal of Medical Genetics, 65(9):104557. Elsevier
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65(9):104557. Elsevier Masson
European journal of medical genetics, 65(9):104557. ELSEVIER SCIENCE BV
EUROPEAN JOURNAL OF MEDICAL GENETICS
European Journal of Medical Genetics, 65(9):104557. Elsevier Masson SAS
European Journal of Medical Genetics, 65, 9
European Journal of Medical Genetics, 65(9):104557. Elsevier
European Journal of Medical Genetics, 65
Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder clinically characterized by vascular, intestinal and uterine fragility and caused by heterozygous pathogenic variants in the COL3A1 gene. Management of patients with vEDS is difficult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d445e008a563ceddd924e154043dba89
https://research.vumc.nl/en/publications/f4834327-875e-4f65-8b6f-849b00433669
https://research.vumc.nl/en/publications/f4834327-875e-4f65-8b6f-849b00433669
Autor:
Marlies JE. Kempers, Marja Wessels, An Van Berendoncks, Ingrid MBH. van de Laar, Nicole de Leeuw, Bart Loeys
Publikováno v:
European journal of medical genetics
European Journal of Medical Genetics, 65(10):104593. Elsevier Masson
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 10
European Journal of Medical Genetics, 65(10):104593. Elsevier Masson
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 10
Contains fulltext : 284810.pdf (Publisher’s version ) (Open Access) INTRODUCTION: The diagnosis of Ehlers-Danlos syndrome is usually based on well-defined diagnostic criteria and the result of DNA investigation. Classical (cEDS) and vascular type (
Autor:
Liesbeth van der Sluijs Veer, Marlies JE Kempers, Heleen Maurice-Stam, Bob F Last, Tom Vulsma, Martha A Grootenhuis
Publikováno v:
Child and adolescent psychiatry and mental health, 6(1). BioMed Central
Child and Adolescent Psychiatry and Mental Health, Vol 6, Iss 1, p 32 (2012)
Child and Adolescent Psychiatry and Mental Health
van der Sluijs Veer, L, Kempers, M J E, Maurice-Stam, H, Last, B F, Vulsma, T & Grootenhuis, M A 2012, ' Health-related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening ', Child and Adolescent Psychiatry and Mental Health, vol. 6, no. 32 . https://doi.org/10.1186/1753-2000-6-32
Child and Adolescent Psychiatry and Mental Health, 6, 32-32
Child and Adolescent Psychiatry and Mental Health, 6, 1, pp. 32-32
Child and Adolescent Psychiatry and Mental Health, 6(32). BioMed Central
Child and Adolescent Psychiatry and Mental Health, Vol 6, Iss 1, p 32 (2012)
Child and Adolescent Psychiatry and Mental Health
van der Sluijs Veer, L, Kempers, M J E, Maurice-Stam, H, Last, B F, Vulsma, T & Grootenhuis, M A 2012, ' Health-related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening ', Child and Adolescent Psychiatry and Mental Health, vol. 6, no. 32 . https://doi.org/10.1186/1753-2000-6-32
Child and Adolescent Psychiatry and Mental Health, 6, 32-32
Child and Adolescent Psychiatry and Mental Health, 6, 1, pp. 32-32
Child and Adolescent Psychiatry and Mental Health, 6(32). BioMed Central
Contains fulltext : 108082.pdf (Publisher’s version ) (Open Access) ABSTRACT: BACKGROUND: Much is written about cognitive and motor development; less is known about social and emotional consequences of growing up with congenital hypothyroidism (CH)
Publikováno v:
Chromosome Research; Jun2011 Supplement, Vol. 19, p25-36, 12p
Publikováno v:
Cancer Research. 75:A37-A37
Background and Aim: There is scant information on pancreatic cancer occurring at young age. About 5 to 10 percent of patients with pancreatic cancer have a family history of pancreatic cancer, which is partially due to defined hereditary syndromes li