Results 131 to 140 of about 1,119,993 (215)

Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases. [PDF]

Mol Genet Metab Rep
Onay H, Kor D, Bulut FD, Burgac EI, Onay B, Kaplan I, Mungan HNO.   +6 more
europepmc   +1 more source

Pathology and Molecular Diagnosis of Marek's Disease Virus in Chickens in Nigeria. [PDF]

Scientifica (Cairo)
Fagbohun OA, Oluladun AC, Jarikre TA, Alaka OO, Oyagbemi AA, Adesina RD, Esan OO, Akinniyi OO, Adetona MO, Omobowale TO, Mamoh UJ, Jaja IF.   +11 more
europepmc   +1 more source

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases. [PDF]

EBioMedicine
Tusseau M, Khaldi-Plassart S, Labalme A, Mathieu AL, Riller Q, Molitor C, Simonet T, Viel S, Gaboriaud C, Thielens N, Heiser L, Chopin E, Rouvet I, Fabien N, Goncalves D, Fremeaux-Bacchi V, El-Sissy C, Pottier N, Larrue R, Ranchin B, Laurent A, Fouillet-Desjonqueres M, Jouret M, Mekinian A, Yamashita M, Morio T, Hachulla E, Melki I, Kone-Paut I, Ballot C, Reumaux H, Pillet P, Harambat J, Richez C, Richer O, Hatchuel Y, Louillet F, Lega JC, Durieu I, Welfringer-Morin A, Picard C, Messadi W, Sarrot-Reynauld F, Sanlaville D, Bader-Meunier B, Walzer T, Lesca G, Rieux-Laucat F, Belot A, GENIAL/LUMUGENE Collaborators.   +49 more
europepmc   +1 more source

LAMP-coupled CRISPR-Cas12a assays: A promising new tool for molecular diagnosis of leishmaniasis. [PDF]

PLoS Negl Trop Dis
Dueñas E, Tirado I, Huaihua P, Parra Del Riego A, Cabrera-Sosa L, Nakamoto JA, Cruz M, Restrepo CM, Arévalo J, Adaui V.   +9 more
europepmc   +1 more source

Molecular diagnosis of sepsis in hospital patients: assessment of the Agata Sepsis^® Platform. [PDF]

BMC Infect Dis
Moreno-Treviño MG, González-Salazar F, León-Cachón RBR, Rivera-Silva G, Hernández-Coria MI, Acedo-Zúñiga J, de la Peña-Mireles IA, Elizondo-Murillo JL, Garibay-Orijel C.   +8 more
europepmc   +1 more source

Diffuse leptomeningeal glioneuronal tumour: molecular diagnosis, evolution and treatment. [PDF]

Acta Neuropathol Commun
Campanelli A, Métais A, Bouchoucha Y, Beccaria K, Laprie A, Blauwblomme T, Guida L, Benichi S, Dufour C, Guerrini-Rousseau L, Simbozel M, Tauziede-Espariat A, Varlet P, Sellami N, Bolle S, Martin V, Boddaert N, Appay R, Dangouloff-Ros V, Khouri C, Bourdeaut F, Doz F, Grill J, Abbou S.   +23 more
europepmc   +1 more source

What we know about prostaglandin pathway dysfunction in chronic enteropathies: From endoscopy to molecular diagnosis. [PDF]

J Transl Int Med
Ruan S, Yan P, Yan Q, Xu X, Zhang S, Wang J, Li J, Li J.   +7 more
europepmc   +1 more source

RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women. [PDF]

Hum Genet
Fabard M, Devos A, Poncet AF, Meneboo JP, Figeac M, Villenet C, Drumare I, Defoort-Dhellemmes S, Meunier I, Zanlonghi X, Grunewald O, Huin V, Lecigne C, Smirnov V, Dhaenens CM.   +14 more
europepmc   +1 more source

Molecular Diagnosis in Culture-Negative Meningococcal Arthritis: A Case Report and Case-Based Literature Review. [PDF]

Mediterr J Rheumatol
Moreno-Soler R, Rico-Sánchez M, Peris-García J, de la Tabla-Ducasse VO, Jover-Diaz F.   +4 more
europepmc   +1 more source

The Molecular Diagnosis of Invasive Fungal Diseases with a Focus on PCR. [PDF]

Diagnostics (Basel)
Brown L, Cruciani M, Morton CO, Alanio A, Barnes RA, Donnelly JP, Hagen F, Gorton R, Lackner M, Loeffler J, Millon L, Rautemaa-Richardson R, White PL.   +12 more
europepmc   +1 more source