Results 71 to 80 of about 281 (94)

Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report. [PDF]

Heliyon
Makhmetov S, Temirkhanova K, Rakhimova S, Satvaldina N, Kalendar R, Kozhamkulov U, Bolatov A, Bayanova M, Bazenova A, Nazarova L, Akilzhanova A, Kairov U.   +11 more
europepmc   +1 more source

Proteasome dysfunction underlies HERC2-linked neurodevelopmental disorder with Angelman-like clinical features. [PDF]

Cell Death Discov
Sala-Gaston J, Costa-Sastre L, Garcia-Diez M, López-Hernández T, Ramírez J, Osinalde N, Valer JA, Arnedo-Pac C, Crosas B, Baple EL, Crosby AH, Mayor U, Ventura F, Rosa JL.   +13 more
europepmc   +1 more source

Perspectives of Rare Disease Experts on Newborn Genome Sequencing.

JAMA Netw Open, 2023
Gold NB, Adelson SM, Shah N, Williams S, Bick SL, Zoltick ES, Gold JI, Strong A, Ganetzky R, Roberts AE, Walker M, Holtz AM, Sankaran VG, Delmonte O, Tan W, Holm IA, Thiagarajah JR, Kamihara J, Comander J, Place E, Wiggs J, Green RC.   +21 more
europepmc   +1 more source

LENG8 mediates RNA nuclear retention and degradation in eukaryotes. [PDF]

Mol Cell
Tian L, Liu L, Yoon Y, Soles LV, Valdez M, Jeong J, Yu C, Huang L, Shi Y.   +8 more
europepmc   +1 more source

High-resolution genomic configuration of FGFR rearrangements dictates the therapeutic vulnerability of squamous cell lung cancers. [PDF]

Transl Lung Cancer Res
Hong SH, Kim TM.
europepmc   +1 more source

Genetics of epilepsy. [PDF]

Exp Biol Med (Maywood)
Piacentini K, Gaitatzis A, Kõks S.
europepmc   +1 more source

Precision Therapeutics for Monogenic Epilepsies: From Molecular Mechanisms to Disease Modification in Developmental and Epileptic Encephalopathies and Neurodevelopmental Disorders with Epilepsy. [PDF]

J Clin Med
Samanta D.
europepmc   +1 more source

Mitochondria-related pathogenic genes in acute and chronic kidney disease: a Mendelian randomization study. [PDF]

Ren Fail
Wang J, Yuan T, Wei Q, Xie K, Zhang J.
europepmc   +1 more source

Identification of YigL as a PLP/PNP phosphatase in Escherichia coli. [PDF]

Appl Environ Microbiol
Matsuo H, Yamada N, Hemmi H, Ito T.
europepmc   +1 more source

9． PLP 結合タンパク質PLPBP の欠損に伴うピリドキシンリン酸蓄積の要因解析

VITAMINS
openaire   +1 more source