Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Eussen BH"'
Autor:
Hamel, BC, Smits, AP, de Graaff, E, Smeets, DF, Schoute, F, Eussen, BH, Knight, SJ, Davies, KE, Assman-Hulsmans, CF, Oostra, BA
During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f11f7f9716546f1e11e424a0e0b5efba
https://ora.ox.ac.uk/objects/uuid:b9dd60da-19cf-4d4a-9b9e-af5eaf2bb688
https://ora.ox.ac.uk/objects/uuid:b9dd60da-19cf-4d4a-9b9e-af5eaf2bb688
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Brosens E; Department of Clinical Genetics, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands.; Department of Paediatric Surgery, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands., Marsch F; Institute of Human Genetics, University of Bonn, Bonn, Germany., de Jong EM; Department of Clinical Genetics, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands.; Department of Paediatric Surgery, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands., Zaveri HP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA., Hilger AC; Institute of Human Genetics, University of Bonn, Bonn, Germany., Choinitzki VG; Institute of Human Genetics, University of Bonn, Bonn, Germany., Hölscher A; Department of Paediatric Surgery and Urology, Children's Hospital of Cologne, Cologne, Germany., Hoffmann P; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Human Genomics Research Group, Department of Biomedicine, University Hospital and University of Basel, Basel, Switzerland., Herms S; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Human Genomics Research Group, Department of Biomedicine, University Hospital and University of Basel, Basel, Switzerland., Boemers TM; Department of Paediatric Surgery and Urology, Children's Hospital of Cologne, Cologne, Germany., Ure BM; Center of Paediatric Surgery Hannover, Hannover Medical School and Bult Children's Hospital, Hannover, Germany., Lacher M; Center of Paediatric Surgery Hannover, Hannover Medical School and Bult Children's Hospital, Hannover, Germany., Ludwig M; Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany., Eussen BH; Department of Clinical Genetics, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands., van der Helm RM; Department of Clinical Genetics, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands., Douben H; Department of Clinical Genetics, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands., Van Opstal D; Department of Clinical Genetics, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands., Wijnen RM; Department of Paediatric Surgery, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands., Beverloo HB; Department of Clinical Genetics, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands., van Bever Y; Department of Clinical Genetics, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands., IJsselstijn H; Department of Paediatric Surgery, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA., Schumacher J; Institute of Human Genetics, University of Bonn, Bonn, Germany., Tibboel D; Department of Paediatric Surgery, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands., Reutter H; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Neonatology and Paediatric Intensive Care, University of Bonn, Bonn, Germany., de Klein A; Department of Clinical Genetics, Erasmus Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Dec; Vol. 24 (12), pp. 1715-1723. Date of Electronic Publication: 2016 Jul 20.
Autor:
Korpershoek E; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., Koffy D; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., Eussen BH; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., Oudijk L; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., Papathomas TG; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., van Nederveen FH; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., Belt EJ; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., Franssen GJ; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., Restuccia DF; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., Krol NM; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., van der Luijt RB; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., Feelders RA; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., Oldenburg RA; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., van Ijcken WF; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., de Klein A; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., de Herder WW; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., de Krijger RR; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands., Dinjens WN; Departments of Pathology (E.K., D.K., L.O., T.G.P., D.F.J.R., N.M.G.K., R.R.d.K., W.N.M.D.), Internal Medicine (R.A.F., W.W.d.H.), and Biomics (W.F.J.v.I.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 CA Rotterdam, The Netherlands; Departments of Clinical Genetics (B.H.E., R.A.O., A.d.K.), and Surgery (E.J.T.B., G.J.H.F.), Erasmus Medical Center Cancer Institute, University Medical Center, 3000 DR Rotterdam, The Netherlands; Department of Histopathology (T.G.P.), King's College Hospital, London, SE5 9RS, United Kingdom; Laboratory for Pathology (F.H.v.N.), Pathologisch Laboratorium Dordrecht, 3317 DA Dordrecht, The Netherlands; Division of Biomedical Genetics (R.B.v.d.L.), University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands; and Department of Pathology (R.R.d.K.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2016 Feb; Vol. 101 (2), pp. 453-60. Date of Electronic Publication: 2015 Dec 15.
Autor:
Brosens E; 1] Department of Clinical Genetics, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands [2] Department of Paediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands., de Jong EM; 1] Department of Clinical Genetics, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands [2] Department of Paediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands., Barakat TS; Department of Reproduction and Development, Erasmus Medical Centre, Rotterdam, The Netherlands., Eussen BH; Department of Clinical Genetics, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands., D'haene B; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., De Baere E; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., Verdin H; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., Poddighe PJ; Department of Clinical Genetics, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands., Galjaard RJ; Department of Clinical Genetics, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands., Gribnau J; Department of Reproduction and Development, Erasmus Medical Centre, Rotterdam, The Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands., Tibboel D; Department of Paediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands., de Klein A; Department of Clinical Genetics, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Sep; Vol. 22 (9), pp. 1077-84. Date of Electronic Publication: 2014 Jan 08.
Autor:
Oei L; Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands., Hsu YH, Styrkarsdottir U, Eussen BH, de Klein A, Peters MJ, Halldorsson B, Liu CT, Alonso N, Kaptoge SK, Thorleifsson G, Hallmans G, Hocking LJ, Husted LB, Jameson KA, Kruk M, Lewis JR, Patel MS, Scollen S, Svensson O, Trompet S, van Schoor NM, Zhu K, Buckley BM, Cooper C, Ford I, Goltzman D, González-Macías J, Langdahl BL, Leslie WD, Lips P, Lorenc RS, Olmos JM, Pettersson-Kymmer U, Reid DM, Riancho JA, Slagboom PE, Garcia-Ibarbia C, Ingvarsson T, Johannsdottir H, Luben R, Medina-Gómez C, Arp P, Nandakumar K, Palsson ST, Sigurdsson G, van Meurs JB, Zhou Y, Hofman A, Jukema JW, Pols HA, Prince RL, Cupples LA, Marshall CR, Pinto D, Sato D, Scherer SW, Reeve J, Thorsteinsdottir U, Karasik D, Richards JB, Stefansson K, Uitterlinden AG, Ralston SH, Ioannidis JP, Kiel DP, Rivadeneira F, Estrada K
Publikováno v:
Journal of medical genetics [J Med Genet] 2014 Feb; Vol. 51 (2), pp. 122-31. Date of Electronic Publication: 2013 Dec 16.
Autor:
de Jong EM; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Douben H, Eussen BH, Felix JF, Wessels MW, Poddighe PJ, Nikkels PG, de Krijger RR, Tibboel D, de Klein A
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2010 Nov; Vol. 18 (11), pp. 1265-8. Date of Electronic Publication: 2010 Jun 16.
Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.
Autor:
Lodder EM; Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands., Eussen BH, van Hassel DA, Hoogeboom AJ, Poddighe PJ, Coert JH, Oostra BA, de Klein A, de Graaff E
Publikováno v:
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology [Chromosome Res] 2009; Vol. 17 (6), pp. 737-44. Date of Electronic Publication: 2009 Aug 12.