Results 61 to 70 of about 281 (94)

Precision gene diagnosis and treatment of epilepsy: a new frontier in medical care. [PDF]

Acta Epileptol
Mu J, Jiang W, Tang Y, Zhou D, Liao W.
europepmc   +1 more source

Metabolic pathways and genes involved in treatable and non-treatable metabolic epilepsies. A comprehensive review and metabolic pathway analysis. [PDF]

Metab Brain Dis
Sesse A, Ladias P, Kostoulas C, Chatzistefanidis D, Georgiou I, Markoula S.   +5 more
europepmc   +1 more source

PhpR, as a unique transcriptional regulator, represses the expression of pyridoxal 5'-phosphate-binding protein YggS in <i>Alcaligenes</i>. [PDF]

Appl Environ Microbiol
Xu Q, Wang C, Liu J, Song F, Li D-F, Li J, Dai S, Yan X, Hong Q, Jiang J, Liu S-J, He J, Qiu J.   +12 more
europepmc   +1 more source

Characteristics and Prognosis of 8p11.23-Amplified Squamous Lung Carcinomas. [PDF]

J Clin Med, 2023
Voutsadakis IA.
europepmc   +1 more source

Beyond hypoxic-ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies. [PDF]

Front Med (Lausanne)
Cimino C, Sortino V, Sapuppo A, Saporito MAN, Scarlata F, Falsaperla R.   +5 more
europepmc   +1 more source

Serial proteomic analysis identifies small extracellular vesicle-MASP2 as an early biomarker of chemotherapy response in advanced pancreatic cancer. [PDF]

Transl Oncol
Dey S, Pandya D, Lo T, Narbutas R, Khandpur B, Krumholtz P, Shervinrad M, Sullivan K, August D, Evans S, Nair S, Okby N, Niland G, Frank RC.   +13 more
europepmc   +1 more source

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

metabolism [PDF]

, 2019
Peter T. Clayton, Philippa B. Mills, Matthew P. Wilson, Barbara Plecko, Clayton, Peter T., Wilson, Matthew P., Plecko, Barbara, Mills, Philippa B.   +7 more
core   +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