Results 61 to 70 of about 271 (90)

Blood DNA methylation markers are associated with diabetic kidney disease progression in type 1 diabetes. [PDF]

Diabetologia
Syreeni A, Dahlström EH, Smyth LJ, Hill C, Mutter S, Harjutsalo V, Chen Z, Natarajan R, Krolewski AS, Hirschhorn JN, Florez JC, GENIE Consortium, Maxwell AP, Groop PH, McKnight AJ, Sandholm N, FinnDiane Study Group.   +16 more
europepmc   +1 more source

Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria. [PDF]

BMC Neurol
Jaber R, Salame H, Zeindeen M, Jawad A, Fawaz H, Alasmar D.   +5 more
europepmc   +1 more source

Is Vitamin B6 a Precision Therapy for Neonatal Seizures? [PDF]

Neurol Int
Falsaperla R, Sortino V, Scalia B, Saporito MAN.   +3 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

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

8p11.23 Amplification in Breast Cancer: Molecular Characteristics, Prognosis and Targeted Therapy. [PDF]

J Clin Med, 2020
Voutsadakis IA.
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

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

Genetics of epilepsy. [PDF]

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

Pyridoxine Responsive Seizures: Beyond Aldehyde Dehydrogenase 7A1. [PDF]

J Neurosci Rural Pract, 2019
Koul R, Alfutaisi A, Abdelrahim R, Altihilli K.   +3 more
europepmc   +1 more source