Results 141 to 150 of about 1,774,415 (209)

Molecular diagnosis of vitreoretinal lymphoma. [PDF]

Taiwan J Ophthalmol
Kwak JJ, Lee CS.
europepmc   +1 more source

Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy. [PDF]

BMC Ophthalmol
Wang L, Li M, Dou G, Sun J, Zhou Z, Wang Y, Zhang Z.   +6 more
europepmc   +1 more source

Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China. [PDF]

Front Genet
Zhou C, Xiao Y, Wei X, Wang J, Liu S.
europepmc   +1 more source

Molecular diagnosis of inherited platelet disorder via a targeted whole-exome virtual gene panel: a 5-year institutional experience. [PDF]

Res Pract Thromb Haemost
Zhang W, Todd KE, Dawson DB, Luchtman-Jones L, Palumbo JS.   +4 more
europepmc   +1 more source

Overreliance on Plasmodium 18S rRNA gene for malaria molecular diagnosis-inferences from systematic review. [PDF]

Malar J
Deora N, Khan MR, Singh P, Zehra N, Sircar S, Pande V, Mallick PK, Sinha A.   +7 more
europepmc   +1 more source

Histopathologic and molecular diagnosis of gastrointestinal tuberculosis in an immunocompetent patient: case report. [PDF]

ASM Case Rep
Cherukuri S, Huang EB, Totten AH, Steinberg J, Ahmed S.   +4 more
europepmc   +1 more source

Clinical Characteristics, Molecular Diagnosis, and Drug Resistance Profiles of Nontuberculous Mycobacteria Infections: A Retrospective Analysis Using PCR Melting Curve Technology. [PDF]

Clin Transl Sci
Wang K, Xu D, Gao Y, Zhao W, Ma K.
europepmc   +1 more source

Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy. [PDF]

BMC Med Genomics
Urabe H, Nakajima T, Mitsuhashi S, Ohta K, Fujinaka H, Goto K, Sato A.   +6 more
europepmc   +1 more source