Signer, Johanna
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Phenotypic expansion of the BPTF-related neurodevelopmental..:

Glinton, Kevin E ; Hurst, Anna C.E ; Bowling, Kevin M...
Glinton , K E , Hurst , A C E , Bowling , K M , Cristian , I , Haynes , D , Adstamongkonkul , D , Schnappauf , O , Beck , D B , Brewer , C , Parikh , A S , Shinde , D N , Donaldson , A , Brautbar , A , Koene , S , van Haeringen , A , Piton , A , Capri , Y , Furlan , M , Gardella , E , Møller , R S , van de Beek , I , Zuurbier , L , Lakeman , P , Bayat , A , Martinez , J , Signer , R , Torring , P M , Engelund , M B , Gripp , K W , Amlie-Wolf , L , Henderson , L B , Midro , A T , Tarasów , E , Stasiewicz-Jarocka , B , Moskal-Jasinska , D , Vos , P , Boschann , F , Stoltenburg , C , Puk , O , Mero , I L , Lossius , K , Mignot , C , Keren , B , Acosta Guio , J C , Briceño , I , Gomez , A , Yang , Y & Stankiewicz , P 2021 , ' Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies ' , American Journal of Medical Genetics, Part A , vol. 185 , no. 5 , pp. 1366-1378 . https://doi.org/10.1002/ajmg.a.6....  , 2021
 
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