Baltrunaite, Kristina
14  Ergebnisse:
Personensuche X
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1

POLR1A variants underlie phenotypic heterogeneity in cranio..:

Smallwood, Kelly ; Watt, Kristin E.N. ; Ide, Satoru...
The American Journal of Human Genetics.  110 (2023)  5 - p. 809-825 , 2023
 
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De Novo and Inherited Pathogenic Variants in KDM3B Cause In..:

Diets, Illja J ; van der Donk, Roos ; Baltrunaite, Kristina...
Diets , I J , van der Donk , R , Baltrunaite , K , Waanders , E , Reijnders , M R F , Dingemans , A J M , Pfundt , R , Vulto-van Silfhout , A T , Wiel , L , Gilissen , C , Thevenon , J , Perrin , L , Afenjar , A , Nava , C , Keren , B , Bartz , S , Peri , B , Beunders , G , Verbeek , N , van Gassen , K , Thiffault , I , Cadieux-Dion , M , Huerta-Saenz , L , Wagner , M , Konstantopoulou , V , Vodopiutz , J , Griese , M , Boel , A , Callewaert , B , Brunner , H G , Kleefstra , T , Hoogerbrugge , N , de Vries , B B A , Hwa , V , Dauber , A , Hehir-Kwa , J Y , Kuiper , R P & Jongmans , M C J 2019 , ' De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism ' , American journal of human genetics , vol. 104 , no. 4 , pp. 758-766 . https://doi.org/10.1016/j.ajhg.2019.02.023.  , 2019
 
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De Novo and Inherited Pathogenic Variants in KDM3B Cause In..:

Diets, Illja J ; van der Donk, Roos ; Baltrunaite, Kristina...
Diets , I J , van der Donk , R , Baltrunaite , K , Waanders , E , Reijnders , M R F , Dingemans , A J M , Pfundt , R , Vulto-van Silfhout , A T , Wiel , L , Gilissen , C , Thevenon , J , Perrin , L , Afenjar , A , Nava , C , Keren , B , Bartz , S , Peri , B , Beunders , G , Verbeek , N , van Gassen , K , Thiffault , I , Cadieux-Dion , M , Huerta-Saenz , L , Wagner , M , Konstantopoulou , V , Vodopiutz , J , Griese , M , Boel , A , Callewaert , B , Brunner , H G , Kleefstra , T , Hoogerbrugge , N , de Vries , B B A , Hwa , V , Dauber , A , Hehir-Kwa , J Y , Kuiper , R P & Jongmans , M C J 2019 , ' De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism ' , American Journal of Human Genetics , vol. 104 , no. 4 , pp. 758-766 . https://doi.org/10.1016/j.ajhg.2019.02.023.  , 2019
 
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