Prescott, Katrina
68  Ergebnisse:
Personensuche X
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1

De novo variants in FRMD5 are associated with developmental..:

Lu, Shenzhao ; Ma, Mengqi ; Mao, Xiao...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9606480/.  , 2022
 
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2

Expanding the genotypic spectrum of TXNL4A variants in Burn..:

Newman, William ; Wood, Katherine ; O'Keefe, Raymond...
Newman , W , Wood , K , O'Keefe , R , Ellingford , J , Thomas , H , Douzgou , S , Beaman , G , Hobson , E & Prescott , K 2022 , ' Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome ' , Clinical Genetics , vol. 101 , no. 2 , pp. 255-259 . https://doi.org/10.1111/cge.14082.  , 2022
 
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5

Expanding the genotypic spectrum of TXNL4A variants in Burn..:

Wood, Katherine A ; Ellingford, Jamie M ; Thomas, Huw B...
https://chesterrep.openrepository.com/bitstream/handle/10034/626287/cge.14082.xml?sequence=2.  , 2021
 
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7

The broad phenotypic spectrum of PPP2R1A-related neurodevel..:

Lenaerts, Lisa ; Reynhout, Sara ; Verbinnen, Iris...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-020-00981-2.  , 2021
 
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9

The broad phenotypic spectrum of PPP2R1A-related neurodevel..:

Lenaerts, Lisa ; Reynhout, Sara ; Verbinnen, Iris...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-020-00981-2.  , 2021
 
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10

The broad phenotypic spectrum of PPP2R1A-related neurodevel..:

Lenaerts, Lisa ; Reynhout, Sara ; Verbinnen, Iris...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-020-00981-2.  , 2021
 
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11

The broad phenotypic spectrum of PPP2R1A-related neurodevel..:

Lenaerts, Lisa ; Reynhout, Sara ; Verbinnen, Iris...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-020-00981-2.  , 2021
 
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12

The broad phenotypic spectrum of PPP2R1A-related neurodevel..:

Lenaerts, Lisa ; Reynhout, Sara ; Verbinnen, Iris...
Lenaerts , L , Reynhout , S , Verbinnen , I , Laumonnier , F , Toutain , A , Bonnet-Brilhault , F , Hoorne , Y , Joss , S , Chassevent , A K , Smith-Hicks , C , Loeys , B , Joset , P , Steindl , K , Rauch , A , Mehta , S G , Chung , W K , Devriendt , K , Holder , S E , Jewett , T , Baldwin , L M , Wilson , W G , Towner , S , Srivastava , S , Johnson , H F , Daumer-Haas , C , Baethmann , M , Ruiz , A , Gabau , E , Jain , V , Varghese , V , Al-Beshri , A , Fulton , S , Wechsberg , O , Orenstein , N , Prescott , K , Childs , A-M , Faivre , L , Moutton , S , Sullivan , J A , Shashi , V , Koudijs , S M , Heijligers , M , Kivuva , E , McTague , A , Male , A , van Ierland , Y , Plecko , B , Maystadt , I , Hamid , R , Hannig , V L , Houge , G & Janssens , V 2021 , ' The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction ' , Genetics in Medicine , vol. 23 , no. 2 , pp. 352-362 . https://doi.org/10.1038....  , 2021
 
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13

The broad phenotypic spectrum of PPP2R1A-related neurodevel..:

Lenaerts, Lisa ; Reynhout, Sara ; Verbinnen, Iris...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-020-00981-2.  , 2021
 
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