المؤلفون: Overwater, E, Marsili, L, Baars, MJH, Baas, AF, van de Beek, I, Dulfer, E, van Hagen, JM, Hilhorst-Hofstee, Y, Kempers, M, Krapels, IP, Menke, LA, Verhagen, Judith, Yeung, KK, Zwijnenburg, PJG, Groenink, M, van Rijn, P, Weiss, MM, Voorhoeve, E, Tintelen, JP, Houweling, AC, Maugeri, A

المصدر: Overwater , E , Marsili , L , Baars , MJH , Baas , AF , van de Beek , I , Dulfer , E , van Hagen , JM , Hilhorst-Hofstee , Y , Kempers , M , Krapels , IP , Menke , LA , Verhagen , J , Yeung , KK , Zwijnenburg , PJG , Groenink , M , van Rijn , P , Weiss , MM , Voorhoeve , E , Tintelen , JP , Houweling , AC & Maugeri , A 2018 , ' Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders ' , Human Mutation , vol. 39 , no. 9 , pp. 1173-1192 .

مصطلحات الفهرس: dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01; name=EMC OR-01, article

URL: https://pure.eur.nl/en/publications/23835a4a-5dc9-49b3-81b7-30079864de63

المؤلفون: Baars, MJH, Scherpbier, AJJA, Schuwirth, LW, Henneman, L, Verweij, AMJJ, Cornell, MC, ten Kate, LP

المساهمون: Clinical genetics, APH - Quality of Care, Amsterdam Reproduction & Development

المصدر: Baars, MJH, Scherpbier, AJJA, Schuwirth, LW, Henneman, L, Verweij, AMJJ, Cornell, MC & ten Kate, LP 2003, ' Knowledge of genetics relevant for daily practice among nearly graduated MDs. ', American journal of human genetics, vol. 73, no. 5, pp. 364-364 .
American journal of human genetics, 73(5), 364-364. Cell Press

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0d0f15f28e035be2b59cdc2e711b5afb
https://research.vumc.nl/en/publications/4d13caaa-830a-4abf-8dd2-524000580d14

المؤلفون: Engelen, K, Postma, AV, van de Meerakker, JBA, Roos - Hesselink, Jolien, Helderman-van d Enden, ATJM, Vliegen, HW, Rahman, T, Baars, MJH, Sels, JW, Bauer, U, Pickardt, T, Sperling, SR, Moorman, AFM, Keavney, B, Goodship, J, Klaassen, S, Mulder, BJM

المصدر: Engelen , K , Postma , AV , van de Meerakker , JBA , Roos - Hesselink , J , Helderman-van d Enden , ATJM , Vliegen , HW , Rahman , T , Baars , MJH , Sels , JW , Bauer , U , Pickardt , T , Sperling , SR , Moorman , AFM , Keavney , B , Goodship , J , Klaassen , S & Mulder , BJM 2013 , ' Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7 ' , Netherlands Heart Journal , vol. 21 , no. 3 , pp. 113-117 .

مصطلحات الفهرس: dk/atira/pure/keywords/researchprograms/AFL001000/EMCCOEUR09; name=EMC COEUR-09, article

URL: https://pure.eur.nl/en/publications/22d069dd-c2d0-4abd-a67b-a3df525a837a

المؤلفون: Baars, MJH, Henneman, L, Cornel, MC, Ten Kate, LP

المساهمون: Clinical genetics, APH - Quality of Care, Amsterdam Reproduction & Development, APH - Personalized Medicine

المصدر: European Journal of Human Genetics, 10, 308-309. Nature Publishing Group
Baars, MJH, Henneman, L, Cornel, MC & Ten Kate, LP 2002, ' Attitudes of Dutch general practitioners, pediatricians and gynecologists towards cystic fibrosis carrier screening ', European Journal of Human Genetics, vol. 10, pp. 308-309 .

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::03c74787580ed904596c20efb772f62b
https://research.vumc.nl/en/publications/dde1fae7-b763-4656-835a-e879bf1bc4fe

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المؤلفون: Radonic, T, de Witte, P, Groenink, M, de Bruin-Bon, RACM, Timmermans, J, Scholte, AJH, van den Berg, MP, Baars, MJH, van Tintelen, JP, Kempers, M, Zwinderman, AH, Mulder, BJM

المصدر: Clinical Genetics; Oct2011, Vol. 80 Issue 4, p346-353, 8p, 1 Black and White Photograph, 1 Diagram, 4 Charts, 1 Graph

مصطلحات موضوعية: MARFAN syndrome, AORTIC valve insufficiency, NOSOLOGY, MYOPIA treatment, MITRAL valve prolapse treatment, BODY surface area, DIAGNOSIS

المؤلفون: Demirdas S; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.).; European Reference Network ReCONNET, Ehlers Danlos Syndrome Working Group, Rotterdam, the Netherlands (S.D.)., van den Bersselaar LM; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., Lechner R; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., Bos J; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Alsters SIM; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Baars MJH; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Baas AF; Department of Genetics, University Medical Center Utrecht, the Netherlands (A.F.B., N.A.A.G., P.J.v.T.)., Baysal Ö; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., van der Crabben SN; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Dulfer E; Department of Genetics, University Medical Center Groningen, the Netherlands (E.D., E.O.)., Giesbertz NAA; Department of Genetics, University Medical Center Utrecht, the Netherlands (A.F.B., N.A.A.G., P.J.v.T.)., Helderman-van den Enden ATJM; Clinical Genetics, Maastricht University Medical Center, the Netherlands (A.T.J.M.H.-v.d.E.)., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, the Netherlands (Y.H.-H.)., Kempers MJE; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., Komdeur FL; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Loeys B; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., Majoor-Krakauer D; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., Ockeloen CW; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., Overwater E; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.).; Department of Genetics, University Medical Center Groningen, the Netherlands (E.D., E.O.)., van Tintelen PJ; Department of Genetics, University Medical Center Utrecht, the Netherlands (A.F.B., N.A.A.G., P.J.v.T.)., Voorendt M; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., de Waard V; Department of Medical Biochemistry, Amsterdam University Medical Center, Amsterdam Cardiovascular Sciences, the Netherlands (V.d.W.)., Maugeri A; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.)., Brüggenwirth HT; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., van de Laar IMBH; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.).; European Reference Network for Rare Multisystemic Vascular Disease, Medium Sized Arteries Working Group, Rotterdam, the Netherlands (I.M.B.H.v.d.L.)., Houweling AC; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.).

المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2024 Jun; Vol. 17 (3), pp. e003978. Date of Electronic Publication: 2024 Apr 16.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

مواضيع طبية MeSH: Ehlers-Danlos Syndrome*/genetics , Ehlers-Danlos Syndrome*/epidemiology , Collagen Type III*/genetics, Humans ; Female ; Male ; Netherlands/epidemiology ; Adult ; Middle Aged ; Retrospective Studies ; Cohort Studies ; Phenotype ; Adolescent ; Genetic Association Studies ; Young Adult ; Aged ; Ehlers-Danlos Syndrome, Type IV