Results 301 to 310 of about 183,311 (355)

Transcriptomic comparative study between canalicular adenoma and HMGA2::WIF1 canalicular‐like pleomorphic adenoma

The Journal of Pathology, EarlyView.
Abstract Canalicular adenoma (CA) is a benign salivary gland tumor predominantly affecting the upper lip and is characterized by monomorphic epithelial cells arranged in branching cords within a loose and vascularized stroma. Unlike pleomorphic adenoma (PA), CA lacks a chondroid matrix and exhibits specific histological features, such as high cuboidal ...
Ziyad Alsugair, Anne Champagnac, Maxime Fieux, Pierre Philouze, Philippe Ceruse, Brice Thamphya, Daniel Pissaloux, Franck Tirode, Nazim Benzerdjeb   +8 more
wiley   +1 more source

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing. [PDF]

Hum Genomics
Zhuang J, Huang N, Wang J, Chen C.
europepmc   +1 more source

Whole exome sequencing the dog

, 2015
Broeckx, Bart, Hitte, Christophe, Coopman, Frank, Verhoeven, Geert, De Keulenaer, Sarah, De Meester, Ellen, Derrien, Thomas, Alfoldi, Jessica, Lindblad-Toh, Kerstin, Bosmans, Tim, Bavegems, Valérie, Gielen, Ingrid, van Bree, Henri, Van Ryssen, Bernadette, Saunders, Jimmy, Van Nieuwerburgh, Filip, Deforce, Dieter   +16 more
openaire   +1 more source

Expanding the Phenotype of PARK‐PRKN to Spastic Paraplegia: A Report of Two Cases

Movement Disorders Clinical Practice, EarlyView.
Nicolas Geoffre, Thomas Ollivier, Guillaume Baille, Luc Defebvre, Vincent Huin, Eugenie Mutez   +5 more
wiley   +1 more source

Matched tissue-blood whole-exome sequencing improves detection of genetic etiologies in pediatric drug-resistant epilepsy. [PDF]

Front Pediatr
Ruan Y, Chen L, Xia S, Lu Q, Wang J, Zhu F, Li N, Du H, Sun D.   +8 more
europepmc   +1 more source

Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia. [PDF]

Sci Rep
Abraham N, P PV, Menon U, Bhavani N, Nair V, Futema M, Bhaskaran R, Menon R, Sekhar S, Krishnan S, Kumar H, Nair DR.   +11 more
europepmc   +1 more source

Investigation of Genetic Aetiology in Intellectual Developmental Disorder with Trio-Whole Exome Sequencing Approach. [PDF]

Noro Psikiyatr Ars
Gorker I, Atlı E, Bozatlı L, Demir S, Yalcıntepe S, Atlı EI, Kosukcu C, Gurkan H.   +7 more
europepmc   +1 more source

Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction. [PDF]

Diagnostics (Basel)
Luo L, Chen C, Cheung CKY, Li Y, Dai X, Zeng T, Wang Y.   +6 more
europepmc   +1 more source

Pathogenic Variants in the PRKRA Gene Can Result in a Rapid‐Onset Dystonia‐Parkinsonism‐like Phenotype

Movement Disorders, EarlyView.
Maeve Bradley, Senan Maher, Christian Espinoza‐Vinces, Kathleen Gorman, Tim Lynch, Richard A. Walsh, Alberto J. Espay, Conor Fearon   +7 more
wiley   +1 more source