Benke, Paul J.
285  Ergebnisse:
Personensuche X
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3

1st international round robin test on safety characteristic..:

Spitzer, Stefan H. ; Askar, Enis ; Benke, Alexander...
Journal of Loss Prevention in the Process Industries.  81 (2023)  - p. 104947 , 2023
 
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4

De novo missense variants in ZBTB47 are associated with dev..:

Ward, Scott K. ; Wadley, Alexandrea ; Tsai, Chun‐hui (Anne)...
American Journal of Medical Genetics Part A.  194 (2023)  1 - p. 17-30 , 2023
 
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5

HNRNPC haploinsufficiency affects alternative splicing of i..:

Niggl, Eva ; Bouman, Arjan ; Briere, Lauren C....
The American Journal of Human Genetics.  110 (2023)  8 - p. 1414-1435 , 2023
 
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P348: De novo missense variants in ZBTB47 cause a neurodeve..:

Scott Ward ; Lindsay Burrage ; Jill Rosenfeld...
http://www.sciencedirect.com/science/article/pii/S294977442300376X.  , 2023
 
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The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E ; Keung, Crystal...
Genomics England Research Consortium , Rots , D , Jakub , T E , Keung , C , Jackson , A , Banka , S , Pfundt , R , de Vries , B B A , van Jaarsveld , R H , Hopman , S M J , van Binsbergen , E , Valenzuela , I , Hempel , M , Bierhals , T , Kortüm , F , Lecoquierre , F , Goldenberg , A , Hertz , J M , Andersen , C B , Kibæk , M , Prijoles , E J , Stevenson , R E , Everman , D B , Patterson , W G , Meng , L , Gijavanekar , C , De Dios , K , Lakhani , S , Levy , T , Wagner , M , Wieczorek , D , Benke , P J , Lopez Garcia , M S , Perrier , R , Sousa , S B , Simões , M J , Isidor , B , Deb , W , Schmanski , A A , Abdul-Rahman , O , Philippe , C , Bruel , A-L , Faivre , L , Vitobello , A , Thauvin , C , Smits , J J , Garavelli , L , Caraffi , S G , Peluso , F , Davis-Keppen , L & Douzgou , S 2023 , ' The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder ' , American Journal of Human Genetics , vol. 110 , no. 6 , pp. 963-978 . http....  , 2023
 
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The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E ; Keung, Crystal...
https://research.rug.nl/en/publications/18b4956f-e2da-4d33-93c3-8960ffb32c70.  , 2023
 
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