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1Academic Journal
المؤلفون: Chen, YC, Auer-Grumbach, M, Matsukawa, S, Zitzelsberger, M, Themistocleous, AC, Strom, TM, Samara, C, Moore, AW, Cho, LTY, Young, GT, Weiss, C, Schabhuttl, M, Stucka, R, Schmid, AB, Parman, Y, Graul-Neumann, L, Heinritz, W, Passarge, E, Watson, RM, Hertz, JM, Moog, U, Baumgartner, M, Valente, EM, Pereira, D, Restrepo, CM, Katona, I, Dusl, M, Stendel, C, Wieland, T, Stafford, F, Reimann, F, Von Au, K, Finke, C, Willems, PJ, Nahorski, MS, Shaikh, SS, Carvalho, OP, Nicholas, AK, Karbani, G, McAleer, MA, Cilio, MR, McHugh, JC, Murphy, SM, Irvine, AD, Jensen, UB, Windhager, R, Weis, J, Bergmann, C, Rautenstrauss, B, Baets, J, De Jonghe, P, Reilly, MM, Kropatsch, R, Kurth, I, Chrast, R, Michiue, T, Bennett, DLH, Woods, CG, Senderek, J
المصدر: Nature genetics. 47(7):803
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Academic Journal
المؤلفون: Coucke PJ, Willaert A, Wessels MW, Callewaert B, De Backer J, Fox JE, Mancini GM, Kambouris M, Willems PJ, Forsyth R, Dietz HC, Loeys B, De Paepe A., ZOPPI, Nicoletta, GARDELLA, Rita, FACCHETTI, Fabio, BARLATI, Sergio, COLOMBI, Marina
المساهمون: Coucke Pj, Willaert A, Wessels Mw, Callewaert B, Zoppi Nicoletta, De Backer J, Fox Je, Mancini Gm, Kambouris M, Gardella Rita, Facchetti Fabio, Willems Pj, Forsyth R, Dietz Hc, Barlati Sergio, Colombi Marina, Loeys B, De Paepe A.
مصطلحات موضوعية: Arterial tortuosity syndrome, SLC2A10, GLUT10
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000236340500018; volume:38; firstpage:452; lastpage:457; numberofpages:6; journal:NATURE GENETICS; http://hdl.handle.net/11379/29243; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33645381280
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3Academic Journal
المؤلفون: Brooks, AS, Bertoli-Avella, AM, Burzynski, GM, Breedveld, GJ, Osinga, J, Boven, LG, Hurst, JA, Mancini, GMS, Lequin, MH, de Coo, RF, Matera, Ivana, de Graaff, E, Meijers, C, Willems, PJ, Tibboel, D, Oostra, BA, Hofstra, RMW
المصدر: Brooks , AS , Bertoli-Avella , AM , Burzynski , GM , Breedveld , GJ , Osinga , J , Boven , LG , Hurst , JA , Mancini , GMS , Lequin , MH , de Coo , RF , Matera , I , de Graaff , E , Meijers , C , Willems , PJ , Tibboel , D , Oostra , BA & Hofstra , RMW 2005 , ' Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems ' , American Journal of Human Genetics , vol. 77 , ....
مصطلحات موضوعية: HIRSCHSPRUNG-DISEASE, MENTAL-RETARDATION, GENE, POLYMICROGYRIA, 2Q22-Q23, DISTINCT, DNA
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4Academic Journal
المؤلفون: Wessels, Marja, Hollander, NS, Willems, PJ
المصدر: Wessels , M , Hollander , NS & Willems , PJ 2003 , ' Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome ' , Prenatal Diagnosis , vol. 23 , no. 3 , pp. 239-242 . https://doi.org/10.1002/pd.551
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC025201A, name=EMC MGC-02-52-01-A
وصف الملف: application/pdf
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5Academic Journal
المؤلفون: Fang, P, Lev-Lehman, E, Tsai, T-F, Matsuura, T, Benton, CS, Sutcliffe, JS, Christian, SL, Kubota, T, Halley, Dicky, Meijers-Heijboer, EJ, Langlois, S, Graham Jr., J.M. (John), Beuten, J, Willems, PJ, Ledbetter, DH, Beaudet, AL
المصدر: Fang , P , Lev-Lehman , E , Tsai , T-F , Matsuura , T , Benton , CS , Sutcliffe , JS , Christian , SL , Kubota , T , Halley , D , Meijers-Heijboer , EJ , Langlois , S , Graham Jr. , J M , Beuten , J , Willems , PJ , Ledbetter , DH & Beaudet , AL 1999 , ' The spectrum of mutations in UBE3A causing Angelman syndrome ' , Human Molecular Genetics , vol. 8 , no. 1 , pp. 129-135 . https://doi.org/10.1093/hmg/8.1.129
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01
وصف الملف: application/pdf
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6Academic Journal
المؤلفون: Wuyts, W, Van Hul, W, Wauters, J, Nemtsova, M, Reyniers, E, Van Hul, EV, De Boulle, K, de Vries, BB, Hendrickx, J, Herrygers, I, Bossuyt, P, Balemans, W, Fransen, E, Vits, L, Coucke, P, Nowak, NJ, Shows, TB, Mallet, L, van den Ouweland, AM, McGaughran, J, Halley, DJ, Willems, PJ
مصطلحات موضوعية: ARTICLES
وصف الملف: text/html
Relation: http://hmg.oxfordjournals.org/cgi/content/short/5/10/1547; http://dx.doi.org/10.1093/hmg/5.10.1547
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7
المؤلفون: Vercammen E, Zamani T, Poeschmann P, Que Dg, Stoica S, Dierickx H, van Rheenen-Flach Le, IliÄ M, Vanparijs P, Ldrissi M, man H, Weber B, Schotten J, Nuradi W, Engelen P, Jochems L, DeBoulle K, De Baets Ggd, Klaassen B, Bekedam D, Dewulf M, KorÅejeva L, Muyldermans K, Coenen M, Bouwens G, Valkenburg Mh, Janssens P, Mestdach F, Topalov D, Wildschut H, Machtelinckx L, Rijnders R, Bovyn T, Albertyn P, Van den Bosch G, Vlaemynck G, Engelen Mc, De Spiegeleer S, BenušienÄ E, Witters K, Top W, Six S, Verschueren S, Martens S, Smet D, Coppens H, Anttonen Ak, Segers N, Badura-Stronka M, Vereecken A, Crnogorac IliÄ Z, Gaugler Senden I, Malniece I, Militaru M, Van Wijngaarden W, Deweert S, Wuyts Km, De Puydt H, Janssens Pm, enakker Es, Castenmiller C, Brezigar A, Momirovska A, Kuyken E, Spiritus T, Vulic R, Willems Pj, Boekweit L, Catry, Culic, Grinfelde I
المصدر: Journal of molecular biomarkers & diagnosis, Los Angeles : OMICS Publishing Group, 2016, Vol. 7, no3, art. no 285 [p. 1-7]
مصطلحات موضوعية: Down syndrome, education.field_of_study, Fetus, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, cell-free DNA, positive predictive value, business.industry, Obstetrics, Population, medicine.disease, Omics, Bioinformatics, Predictive value, Clinical study, 03 medical and health sciences, 0302 clinical medicine, Cell-free fetal DNA, Medicine, 030212 general & internal medicine, business, education, Trisomy
وصف الملف: application/pdf
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8
المؤلفون: van Alphen De Veer Mr, Willems Pj, van Andel Ga, van Norren C, Holst W
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Alternative medicine, medicine, Psychiatry, business
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9Academic Journal
المؤلفون: Chen, YC, Auer-Grumbach, M, Matsukawa, S, Zitzelsberger, M, Themistocleous, AC, Strom, TM, Samara, C, Moore, AW, Cho, TY, Young, GT, Weiss, C, Schabhuttl, M, Stucka, R, Schmid, AB, Parman, Y, Graul-Neumann, L, Heinritz, W, Passarge, E, Watson, RM, Hertz, JM, Moog, U, Baumgartner, M, Valente, EM, Pereira, D, Restrepo, CM, Katona, I, Dusl, M, Stendel, C, Wieland, T, Stafford, F, Reimann, F, von Au, K, Finke, C, Willems, PJ, Nahorski, MS, Shaikh, SS, Carvalho, OP, Nicholas, AK, Karbani, G, McAleer, MA, Cilio, MR, McHugh, JC, Murphy, SM, Irvine, AD, Jensen, UB, Windhager, R, Weis, J, Bergmann, C, Rautenstrauss, B, Baets, J, De Jonghe, P, Reilly, MM, Kropatsch, R, Kurth, I, Chrast, R, Michiue, T, Bennett, DLH, Woods, CG, Senderek, J
المصدر: Nature genetics. 47(8):962-962
مصطلحات موضوعية: Medicin och hälsovetenskap
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10Academic JournalThe SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome
المؤلفون: Schepers, D, Doyle, AJ, Oswald, G, Sparks, E, Myers, L, Willems, PJ, Mansour, S, Simpson, MA, Frysira, H, Maat-Kievit, A, van Minkelen, Rick, Hoogeboom, JM, Mortier, GR, Titheradge, H, Brueton, L, Starr, L, Stark, Z, Ockeloen, C, Lourenco, CM, Blair, E, Hobson, E, Hurst, J, Maystadt, I, Destree, A, Girisha, KM, Miller, M, Dietz, HC, Loeys, B, Van Laer, L
المصدر: Schepers , D , Doyle , AJ , Oswald , G , Sparks , E , Myers , L , Willems , PJ , Mansour , S , Simpson , MA , Frysira , H , Maat-Kievit , A , van Minkelen , R , Hoogeboom , JM , Mortier , GR , Titheradge , H , Brueton , L , Starr , L , Stark , Z , Ockeloen , C , Lourenco , CM , Blair , E , Hobson , E , Hurst , J , Maystadt , I , Destree , A , Girisha , ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01
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11Academic Journal
المؤلفون: Coucke PJ, Wessels MW, Van Acker P, Willems PJ, De Paepe A., GARDELLA, Rita, BARLATI, Sergio, COLOMBI, Marina
المساهمون: Coucke Pj, Wessels Mw, Van Acker P, Gardella Rita, Barlati Sergio, Willems Pj, Colombi Marina, De Paepe A.
مصطلحات موضوعية: Arterial tortuosity, linkage analysi, chromosome 20q13, Ehlers-Danlos-syndrome, pulmonary, proteoglycan, vessel, cloning
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/14569121; info:eu-repo/semantics/altIdentifier/wos/WOS:000186051800005; volume:40; issue:10; firstpage:747; lastpage:751; numberofpages:5; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11379/28378; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0142147124; http://dx.doi.org/10.1136/jmg.40.10.747
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12Conference
المؤلفون: Coucke, Paul, WESSELS, NW, Van Acker, Petra, GARDELLA, R, BARLATI, S, WILLEMS, PJ, COLOMBI, M, De Paepe, Anne
المصدر: AMERICAN JOURNAL OF HUMAN GENETICS ; ISSN: 0002-9297
مصطلحات موضوعية: Medicine and Health Sciences
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13Academic Journal
المؤلفون: Speksnijder, Leonie, Overbeek, Titia, Knapen, Maarten, Lunshof, SM, Hoogeboom, Jeannette, van den Ouwenland, AM, Coo, IFM, Lequin, MH, Bolz, HJ, Bergmann, C, Biesecker, LG, Willems, PJ, Wessels, Marja
المصدر: Speksnijder , L , Overbeek , T , Knapen , M , Lunshof , SM , Hoogeboom , J , van den Ouwenland , AM , Coo , IFM , Lequin , MH , Bolz , HJ , Bergmann , C , Biesecker , LG , Willems , PJ & Wessels , M 2013 , ' A De Novo GLI3 Mutation in a Patient With Acrocallosal Syndrome ' , American Journal of Medical Genetics Part A , vol. 161A , no. 6 , pp. 1394-1400 . https://doi.org/10.1002/ajmg.a.35874
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC025201A, name=EMC MGC-02-52-01-A, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM044402, name=EMC MM-04-44-02, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES033001, name=EMC NIHES-03-30-01
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14Academic Journal
المؤلفون: Verhagen, Judith, Diderich, Karin, Oudesluijs, Grietje, Verheijen - Mancini, Grazia, Eggink, Alex, Verkleij-Hagoort, AC, Groenenberg, Irene, Willems, PJ, Plessis, Frederik, Man, Stella, Srebniak, Gosia, Opstal, D, Hulsman, Lorette, van Zutven, Laura, Wessels, Marja
المصدر: Verhagen , J , Diderich , K , Oudesluijs , G , Verheijen - Mancini , G , Eggink , A , Verkleij-Hagoort , AC , Groenenberg , I , Willems , PJ , Plessis , F , Man , S , Srebniak , G , Opstal , D , Hulsman , L , van Zutven , L & Wessels , M 2012 , ' Phenotypic Variability of Atypical 22q11.2 Deletions Not Including TBX1 ' , American Journal of Medical Genetics Part A , vol. 158A , no. 10 , pp. 2412-2420 . https://doi.org/10.1002/ajmg.a.35517
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCCOEUR09, name=EMC COEUR-09, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC025201A, name=EMC MGC-02-52-01-A, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01
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15Academic Journal
المؤلفون: De Graaf - van de Laar, Ingrid, Linde, Denise, Oei, Edwin, Bos, Koen, Bessems, Gert, Bierma - Zeinstra, Sita, Meer, Belle lore, Pals, G, Oldenburg, Rogier, Bekkers, Jos, Moelker, Adriaan, de Graaf, Bianca, Matyas, G, Mulder, Ingrid, Timmermans, J, Hilhorst-Hofstee, Y, Cobben, JM, Brüggenwirth, Hennie, Van Laer, L, Loeys, B, Backer, J, Coucke, PJ, Dietz, HC, Willems, PJ, Oostra, Ben, de Paepe, A, Roos - Hesselink, Jolien, Bertoli Avella, AM, Wessels, Marja
المصدر: De Graaf - van de Laar , I , Linde , D , Oei , E , Bos , K , Bessems , G , Bierma - Zeinstra , S , Meer , B L , Pals , G , Oldenburg , R , Bekkers , J , Moelker , A , de Graaf , B , Matyas , G , Mulder , I , Timmermans , J , Hilhorst-Hofstee , Y , Cobben , JM , Brüggenwirth , H , Van Laer , L , Loeys , B , Backer , J , Coucke , PJ , Dietz ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCCOEUR09, name=EMC COEUR-09, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015101, name=EMC MM-01-51-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES026701, name=EMC NIHES-02-67-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES033001, name=EMC NIHES-03-30-01
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16Academic Journal
المؤلفون: De Graaf - van de Laar, Ingrid, Oldenburg, Rogier, Pals, G, Roos - Hesselink, Jolien, de Graaf, Bianca, Verhagen, Judith, Hoedemaekers, YM, Willemsen, Rob, Severijnen, Lies-anne, Venselaar, H, Vriend, G, Pattynama, Peter, Collee, M, Majoor - Krakauer, Danielle, Poldermans, D, Mulder, Ingrid, Micha, D, Timmermans, J, Hilhorst-Hofstee, Y, Bierma - Zeinstra, Sita, Willems, PJ, Kros, J.M., Oei, Edwin, Oostra, Ben, Wessels, Marja, Bertoli Avella, AM
المصدر: De Graaf - van de Laar , I , Oldenburg , R , Pals , G , Roos - Hesselink , J , de Graaf , B , Verhagen , J , Hoedemaekers , YM , Willemsen , R , Severijnen , L , Venselaar , H , Vriend , G , Pattynama , P , Collee , M , Majoor - Krakauer , D , Poldermans , D , Mulder , I , Micha , D , Timmermans , J , Hilhorst-Hofstee , Y , Bierma - Zeinstra , S , Willems , PJ , Kros , J ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCCOEUR09, name=EMC COEUR-09, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015101, name=EMC MM-01-51-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM032401, name=EMC MM-03-24-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES026701, name=EMC NIHES-02-67-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES033001, name=EMC NIHES-03-30-01
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17Academic Journal
المؤلفون: Valstar, MJ (Marlies), Bertoli Avella, AM, Wessels, Marja, Ruijter, George, de Graaf, Bianca, Olmer, Renske, Elfferich, Peter, Neijs, S, Kariminejad, R, Ezgu, FS, Tokatli, A, Czartoryska, B, Bosschaart, AN (Ad), van den Bos-Terpstra, F, Puissant, H, Burger, F, Omran, H, Eckert, D, Filocamo, M, Simeonov, E, Willems, PJ, Wevers, RA, Niermeijer, Martinus, Halley, Dicky, Poorthuis, BHM, Diggelen, Otto
المصدر: Valstar , MJ , Bertoli Avella , AM , Wessels , M , Ruijter , G , de Graaf , B , Olmer , R , Elfferich , P , Neijs , S , Kariminejad , R , Ezgu , FS , Tokatli , A , Czartoryska , B , Bosschaart , AN , van den Bos-Terpstra , F , Puissant , H , Burger , F , Omran , H , Eckert , D , Filocamo , M , Simeonov , E , Willems , PJ , Wevers , RA , Niermeijer , M , Halley , D ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01
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18Academic Journal
المؤلفون: Wessels, Marja, Willems, PJ
المصدر: Wessels , M & Willems , PJ 2010 , ' Genetic factors in non-syndromic congenital heart malformations ' , Clinical Genetics , vol. 78 , no. 2 , pp. 103-123 . https://doi.org/10.1111/j.1399-0004.2010.01435.x
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01
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19Academic Journal
المؤلفون: Wessels, Marja, Kuchinka, B, Heydanus, Roger, Smit, Bert, Dooijes, D, de Krijger, Ronald, Lequin, MH, de Jong, EM (Elisabeth), Husen, M, Willems, PJ, Casey, B
المصدر: Wessels , M , Kuchinka , B , Heydanus , R , Smit , B , Dooijes , D , de Krijger , R , Lequin , MH , de Jong , EM , Husen , M , Willems , PJ & Casey , B 2010 , ' Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? ' , Journal of Medical Genetics , vol. 47 , no. 5 , pp. 351-355 . https://doi.org/10.1136/jmg.2008.060913
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM032401, name=EMC MM-03-24-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM035404A, name=EMC MM-03-54-04-A
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20Academic Journal
المؤلفون: Wessels, Marja, De Graaf - van de Laar, Ingrid, Roos - Hesselink, Jolien, Strikwerda, S (Sipke), Majoor - Krakauer, Danielle, de Vries, BBA, Kerstjens-Frederikse, WS, Vos, YJ, de Graaf, Bianca, Bertoli Avella, AM, Willems, PJ
المصدر: Wessels , M , De Graaf - van de Laar , I , Roos - Hesselink , J , Strikwerda , S , Majoor - Krakauer , D , de Vries , BBA , Kerstjens-Frederikse , WS , Vos , YJ , de Graaf , B , Bertoli Avella , AM & Willems , PJ 2009 , ' Autosomal Dominant Inheritance of Cardiac Valves Anomalies in Two Families: Extended Spectrum of Left-Ventricular Outflow Tract Obstruction ' , American Journal of Medical Genetics Part A , vol. 149A , no. 2 , pp. 216-225 . https://doi.org/10.1002/ajmg.a.32594
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCCOEUR09, name=EMC COEUR-09, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01