Results 201 to 210 of about 18,361 (285)

Prader-Willi syndrome: A rare genetic disorder with complex clinical manifestations. [PDF]

J Family Med Prim Care
Yadav D, Yadav N, Pruthi N, Kumar S, Bhalla K.   +4 more
europepmc   +1 more source

Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome. [PDF]

Transl Pediatr
Wu Z, Yin X, Li X, Mei H, Li J, Huang Z, Cheng J, Yi P, Zhang W, Xu A.   +9 more
europepmc   +1 more source

Benchmarking standard-of-care and emerging genomic approaches to enhance diagnosis in pediatric acute lymphoblastic leukemia. [PDF]

Br J Cancer
Gil JV, Avetisyan G, Miralles A, de Las Heras S, Díaz-González Á, López-Benet C, Del Cañizo M, Vicente A, Andreu R, Fuentes C, Fernández JM, Barragán E, Such E, Llop M.   +13 more
europepmc   +1 more source

Comprehensive Genetic Analysis of <i>NF2</i> in Sporadic Vestibular Schwannoma. [PDF]

Laryngoscope Investig Otolaryngol
Wakabayashi T, Wasano K, Nakamura K, Hosoya M, Kawano R, Takamatsu R, Ueno M, Shimanuki MN, Tsuzuki N, Nishiyama T, Akiyama T, Toda M, Nishihara H, Ozawa H, Oishi N.   +14 more
europepmc   +1 more source

A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes. [PDF]

Genome Med
Urakawa T, Hattori A, Ogiwara Y, Masubuchi H, Igarashi M, Nakamura S, Hara-Isono K, Ishiwata K, Ogata-Kawata H, Kamura H, Kuroki Y, Nakabayashi K, Fukami M, Kagami M.   +13 more
europepmc   +1 more source

Cost analysis of newborn screening for spinal muscular atrophy using digital PCR vs. MLPA. [PDF]

Mol Genet Metab Rep
Shekhawat DS, Mittal A, Singh K.
europepmc   +1 more source

Molecular Genetic Analysis of a <i>DMD</i> Frameshift Mutation in a Boy with Duchenne Muscular Dystrophy by MLPA and Sanger Sequencing. [PDF]

Pharmgenomics Pers Med
Chen Q, Zhang W, Zha L.
europepmc   +1 more source

Analysis of Methylation Patterns of Some Tumor Suppressor Genes in Non-Small Cell Lung Cancer Using the Multiplex Ligation-Dependent Probe Amplification [MLPA] Method

, 2014
Ahmet Uludağ, Sevilhan Artan, Emre Tepeli, Nur Büyükpınarbaşılı, Muhammed Hamza Müslümanoğlu, Muhsin Özdemir, Murat Oznur, Hüseyi̇n Aslan, Oğuz Çilingir   +8 more
openalex   +1 more source

Diagnostic Utility of a Multiplex PCR Assay in Detecting Common Mutations of the α-Globin Gene in α-Thalassemia. [PDF]

Anemia
Park SN, Roh J, Kim JT, Song MJ.
europepmc   +1 more source

Variants of NLRP genes encoding subcortical maternal complex components are linked to biparental placental mesenchymal dysplasia. [PDF]

Hum Genomics
Murase A, Mishima H, Aoki S, Hara S, Kubiura-Ichimaru M, Ohba T, Yoshiura KI, Soejima H.   +7 more
europepmc   +1 more source