Brownstein, Catherine A.
212  Ergebnisse:
Personensuche X
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2

Drosophila functional screening of de novo variants in auti..:

Marcogliese, Paul C ; Deal, Samantha L ; Andrews, Jonathan...
https://pure.eur.nl/en/publications/22c27a09-315d-4960-9076-8dea3ed9dfdc.  , 2022
 
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3

The Phenotypic Continuum of ATPLA3-Related Disorders:

Vezyroglou, Aikaterini ; Akilapa, Rhoda ; Barwick, Katy...
https://discovery.ucl.ac.uk/id/eprint/10153357/1/e1511.full%20%281%29.pdf.  , 2022
 
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4

Drosophila functional screening of de novo variants in auti..:

Marcogliese, Paul C ; Deal, Samantha L ; Andrews, Jonathan...
https://pure.eur.nl/en/publications/22c27a09-315d-4960-9076-8dea3ed9dfdc.  , 2022
 
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5

ITSN1:a novel candidate gene involved in autosomal dominant..:

Bruel, Ange Line ; Vitobello, Antonio ; Thiffault, Isabelle...
https://portal.findresearcher.sdu.dk/da/publications/d444f68a-4d39-4957-9d28-ebffbaecc4b5.  , 2022
 
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8

Current knowledge of SLC6A1-related neurodevelopmental diso..:

Goodspeed, Kimberly ; Pérez-Palma, Eduardo ; Iqbal, Sumaiya...
https://portal.findresearcher.sdu.dk/da/publications/340d2f6a-0b1a-469f-a342-503339b49841.  , 2020
 
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14

The Matchmaker Exchange: A Platform for Rare Disease Gene D..:

Philippakis, Anthony A ; Azzariti, Danielle R ; Beltran, Sergi...
Philippakis , A A , Azzariti , D R , Beltran , S , Brookes , A J , Brownstein , C A , Brudno , M , Brunner , H G , Buske , O J , Carey , K , Doll , C , Dumitriu , S , Dyke , S O M , den Dunnen , J T , Firth , H V , Gibbs , R A , Girdea , M , Gonzalez , M , Haendel , M A , Hamosh , A , Holm , I A , Huang , L , Hurles , M E , Hutton , B , Krier , J B , Misyura , A , Mungall , C J , Paschall , J , Paten , B , Robinson , P N , Schiettecatte , F , Sobreira , N L , Swaminathan , G J , Taschner , P E , Terry , S F , Washington , N L , Zuechner , S , Boycott , K M & Rehm , H L 2015 , ' The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery ' , Human Mutation , vol. 36 , no. 10 , pp. 915-921 . https://doi.org/10.1002/humu.22858.  , 2015
 
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