Punj, Sumit
28  Ergebnisse:
Personensuche X
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1

Isolated benign persistent proteinuria with novel associati..:

Shi, Vivian ; Stein, Quinn ; Clark, Dinah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258721/.  , 2023
 
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4

TAOK1 is associated with neurodevelopmental disorder and es..:

van Woerden, Geeske M ; Bos, Melanie ; de Konink, Charlotte...
van Woerden , G M , Bos , M , de Konink , C , Distel , B , Avagliano Trezza , R , Shur , N E , Barañano , K , Mahida , S , Chassevent , A , Schreiber , A , Erwin , A L , Gripp , K W , Rehman , F , Brulleman , S , McCormack , R , de Geus , G , Kalsner , L , Sorlin , A , Bruel , A L , Koolen , D A , Gabriel , M K , Rossi , M , Fitzpatrick , D R , Wilkie , A O M , Calpena , E , Johnson , D , Brooks , A , van Slegtenhorst , M , Fleischer , J , Groepper , D , Lindstrom , K , Innes , A M , Goodwin , A , Humberson , J , Noyes , A , Langley , K G , Telegrafi , A , Blevins , A , Hoffman , J , Guillen Sacoto , M J , Juusola , J , Monaghan , K G , Punj , S , Simon , M , Pfundt , R , Elgersma , Y & Kleefstra , T 2021 , ' TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development ' , Human Mutation , vol. 42 , no. 4 , pp. 445-459 . https://doi.org/10.1002/humu.24176.  , 2021
 
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6

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Dis..:

Guo, Hui ; Zhang, Qiumeng ; Dai, Rujia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7674997/.  , 2020
 
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8

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Dis..:

Guo, Hui ; Zhang, Qiumeng ; Dai, Rujia...
Guo , H , Zhang , Q , Dai , R , Yu , B , Hoekzema , K , Tan , J , Tan , S , Jia , X , Chung , W K , Hernan , R , Alkuraya , F S , Alsulaiman , A , Al-Muhaizea , M A , Lesca , G , Pons , L , Labalme , A , Laux , L , Bryant , E , Brown , N J , Savva , E , Ayres , S , Eratne , D , Peeters , H , Bilan , F , Letienne-Cejudo , L , Gilbert-Dussardier , B , Ruiz-Arana , I L , Merlini , J M , Boizot , A , Bartoloni , L , Santoni , F , Karlowicz , D , McDonald , M , Wu , H , Hu , Z , Chen , G , Ou , J , Brasch-Andersen , C , Fagerberg , C R , Dreyer , I , chun-hui Tsai , A , Slegesky , V , McGee , R B , Daniels , B , Sellars , E A , Carpenter , L A , Schaefer , B , Sacoto , M J G , Begtrup , A , Schnur , R E , Punj , S , Wentzensen , I M , Rhodes , L , Pan , Q , Bernier , R A , Chen , C , Eichler , E E & Xia , K 2020 , ' NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism ' , American Journal of Human Genetics , vol. 107 , no. 5 , pp. 96....  , 2020
 
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9

Genotype-phenotype correlation at codon 1740 ofSETD2:

Rabin, Rachel ; Radmanesh, Alireza ; Glass, Ian A...
https://research.rug.nl/en/publications/da1c43a6-8e82-46d3-a42e-ee21f8eb9150.  , 2020
 
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