Jones Marilyn
312  Ergebnisse:
Personensuche X
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1

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx.  , 2023
 
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5

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf.  , 2022
 
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7

X-linked neonatal-onset epileptic encephalopathy associated..:

Sun, Jia Hui ; Chen, Jiang ; Valenzuela, Fernando Eduardo Ayala...
Sun , J H , Chen , J , Valenzuela , F E A , Brown , C , Masser-Frye , D , Jones , M , Romero , L P , Rinaldi , B , Li , W L , Li , Q Q , Wu , D , Gerard , B , Thorpe , E , Bayat , A & Shi , Y S 2021 , ' X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3 ' , PLOS Genetics , vol. 17 , no. 6 , e1009608 . https://doi.org/10.1371/journal.pgen.1009608.  , 2021
 
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Pathogenic variants in USP7 cause a neurodevelopmental diso..:

Fountain, Michael D ; Oleson, David S ; Rech, Megan E...
Fountain , M D , Oleson , D S , Rech , M E , Segebrecht , L , Hunter , J V , McCarthy , J M , Lupo , P J , Holtgrewe , M , Moran , R , Rosenfeld , J A , Isidor , B , le Caignec , C D , Saenz , M S , Pedersen , R C , Morgan , T M , Pfotenhauer , J P , Xia , F , Bi , W , Kang , S-H L , Patel , A , Krantz , I D , Raible , S E , Smith , W , Cristian , I , Torti , E , Juusola , J , Millan , F , Wentzensen , I M , Person , R E , Küry , S B , Bézieau , S , Uguen , K V , Férec , C , Munnich , A , van Haelst , M , Lichtenbelt , K D , van Gassen , K , Hagelstrom , T , Chawla , A , Perry , D L , Taft , R J , Jones , M , Masser-Frye , D , Dyment , D , Venkateswaran , S , Li , C , Escobar , L F , Horn , D , Spillmann , R C , Peña , L , Wierzba , J , Strom , T M , Parenti , I , Kaiser , F J , Ehmke , N & Schaaf , C P 2019 , ' Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies ' , Genetics....  , 2019
 
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