Jangam, Sharayu
24  Ergebnisse:
Personensuche X
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2

Dicarboxylic acylcarnitine biomarkers in peroxisome biogene..:

Wangler, Michael F. ; Lesko, Barbara ; Dahal, Rejwi...
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107680 , 2023
 
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7

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ..:

Oláhová, Monika ; Yoon, Wan Hee ; Thompson, Kyle...
The American Journal of Human Genetics.  102 (2018)  3 - p. 494-504 , 2018
 
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10

Rare deleterious de novo missense variants in Rnf2/Ring2 ar..:

Luo, Xi ; Schoch, Kelly ; Jangam, Sharayu V...
Human Molecular Genetics.  30 (2021)  14 - p. 1283-1292 , 2021
 
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11

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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12

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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13

Disruptive mutations in TANC2 define a neurodevelopmental s..:

Guo, Hui ; Bettella, Elisa ; Marcogliese, Paul...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-019-12435-8.  , 2019
 
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14

Disruptive mutations in TANC2 define a neurodevelopmental s..:

Guo, Hui ; Bettella, Elisa ; Marcogliese, Paul C...
https://research.vumc.nl/en/publications/42063201-c6d1-4097-87df-553d6c02bdae.  , 2019
 
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15

Disruptive mutations in TANC2 define a neurodevelopmental s..:

Guo, Hui ; Bettella, Elisa ; Marcogliese, Paul C...
Guo , H , Bettella , E , Marcogliese , P C , Zhao , R , Andrews , J C , Nowakowski , T J , Gillentine , M A , Hoekzema , K , Wang , T , Wu , H , Jangam , S , Liu , C , Ni , H , Willemsen , M H , van Bon , B W , Rinne , T , Stevens , S J C , Kleefstra , T , Brunner , H G , Yntema , H G , Long , M , Zhao , W , Hu , Z , Colson , C , Richard , N , Schwartz , C E , Romano , C , Castiglia , L , Bottitta , M , Dhar , S U , Erwin , D J , Emrick , L , Keren , B , Afenjar , A , Zhu , B , Bai , B , Stankiewicz , P , Herman , K , Mercimek-Andrews , S , Juusola , J , Wilfert , A B , Abou Jamra , R , Buettner , B , Mefford , H C , Muir , A M , Scheffer , I E , Regan , B M , Malone , S , Gecz , J , Stegmann , A P A , University of Washington Center for Mendelian Genomics , Eichler , E E & Murgia , A 2019 , ' Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders ' , Nature Communications , vol. 10 , 4679 . https://doi.org/10.1038/s414....  , 2019
 
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