Results 181 to 190 of about 18,361 (285)

Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders. [PDF]

BMC Med Genomics
Mohamed AM, Eid OM, Amr KS, Mahrous R, Hemimi M, Elsaeid A, Erian PSF, Gharib S, Hussein SH, El-Massieh PMA, Meguid NA.   +10 more
europepmc   +1 more source

Droplet Digital PCR Improves Detection of <i>BRCA1/2</i> Copy Number Variants in Advanced Prostate Cancer. [PDF]

Int J Mol Sci
Rungkamoltip P, Khongcharoen N, Nokchan N, Bostan Ali Z, Plikomol M, Bejrananda T, Boonchai S, Chamnina S, Srakhao W, Khongkow P.   +9 more
europepmc   +1 more source

Use of the MS-MLPA assay in prenatal diagnosis of Prader–Willi syndrome with mosaic trisomy 15

Mei-Zi Zhang, Yuehong Liang, Hui Li, Fengqin Xu   +3 more
openalex   +1 more source

Hiding in plain sight: a partial deletion of BRCA1 exon 7 undetectable by MLPA is a Nepali founder variant [PDF]

Virginia Clowes, Jenny C. Taylor, Alistair T. Pagnamenta   +2 more
openalex   +1 more source

Persistent toe walking as a prominent feature in pediatric PMP22- Related neuropathies: A retrospective cohort study. [PDF]

Glob Med Genet
Pomarino D, Rostásy KM, Fregien B, Schönfeldt JO, Nazarkin A.   +4 more
europepmc   +1 more source

MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai

Journal of clinical laboratory analysis (Print), 2015
X. Ji, Jingmin Zhang, Yan Xu, Fei Long, Wei-wei Sun, Xiaoqing Liu, Yingwei Chen, Wen-ting Jiang   +7 more
semanticscholar   +1 more source

Auditory genotype-phenotype correlation of patients with variants in STRC. [PDF]

Sci Rep
Cheon TU, Joo SY, Kim SH, Choi JY, Won D, Gee HY, Jung J.   +6 more
europepmc   +1 more source

Genetic Analysis Strategy for Diagnosing Congenital Heart Disease. [PDF]

Mol Syndromol
Malgarezi de Moraes N, Diniz BL, Böttcher AK, Nunes MR, Mergener R, Gazzola Zen PR.   +5 more
europepmc   +1 more source

Enhanced detection and characterization of germline structural variants in cancer predisposition genes via genome sequencing. [PDF]

Genet Med Open
Kargaran PK, Ding Q, Choate LA, Sellers HL, Stein MI, Moyers BA, Basu S, Tandale PP, Setlem R, Bishop MF, Holdren MA, Urban RM, Gupta S, Shen W.   +13 more
europepmc   +1 more source

From shadows to clarity: A new paradigm for comprehensive variant detection in undiagnosed dystrophinopathy using combined long-read and RNA sequencing. [PDF]

Comput Struct Biotechnol J
Zhao L, Pan S, Hu C, Shi Y, Li X.
europepmc   +1 more source