يعرض 1 - 20 نتائج من 183 نتيجة بحث عن '"Willems, Pj"', وقت الاستعلام: 0.63s تنقيح النتائج
  1. 1
  2. 2
    Academic Journal

    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

  3. 3
    Academic Journal

    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 , ....

  4. 4
    Academic Journal

    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

    وصف الملف: application/pdf

  5. 5
    Academic Journal

    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

    وصف الملف: application/pdf

  6. 6
    Academic Journal
  7. 7

    المصدر: Journal of molecular biomarkers & diagnosis, Los Angeles : OMICS Publishing Group, 2016, Vol. 7, no3, art. no 285 [p. 1-7]

    وصف الملف: application/pdf

  8. 8
  9. 9
  10. 10
    Academic Journal

    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 , ....

  11. 11
    Academic Journal

    المساهمون: Coucke Pj, Wessels Mw, Van Acker P, Gardella Rita, Barlati Sergio, Willems Pj, Colombi Marina, De Paepe A.

    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

  12. 12
    Conference
  13. 13
    Academic Journal
  14. 14
    Academic Journal

    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

  15. 15
    Academic Journal

    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 ....

  16. 16
    Academic Journal

    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 ....

  17. 17
    Academic Journal

    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 ....

  18. 18
    Academic Journal
  19. 19
    Academic Journal
  20. 20
    Academic Journal

    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