Results 191 to 200 of about 18,361 (285)

Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients. [PDF]

BMC Pediatr
Mohamed AM, Eid O, Farid M, Ashaat E, Abdel-Salam GMH, El-Bassyouni HT, Essa M, Mahrous R, Erian PSF, Refaat KM, Fayez A, Zaki M.   +11 more
europepmc   +1 more source

Clonal intratumor heterogeneity of promoter hypermethylation in breast cancer by MS-MLPA

Modern Pathology, 2014
C. Moelans, J. S. D. Groot, Xiaojuan Pan, E. Wall, P. Diest   +4 more
semanticscholar   +1 more source

Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology. [PDF]

Risk Manag Healthc Policy
Chen Y, Yu Q, Ge L, Weng L, Pan X, Zhou X, Zhou N, Wang Y, Jia J, Li H.   +9 more
europepmc   +1 more source

Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose? [PDF]

Xiaoyi Cong, Tong Zhang, Zhenming Li, Xiaojin Luo, Liang Hu, Weiqiang Liu   +5 more
openalex   +1 more source

Diagnostic Precision in Pediatric Neuromuscular Disorders: A Case Study of Bethlem Myopathy Mimicking Duchenne Muscular Dystrophy. [PDF]

Cureus
Alyami NH, Musallam SH, Al Greshah H, Alabatahee N, Alyami T, Al Abdali A.   +5 more
europepmc   +1 more source

Detection of HER2 Status in Breast Cancer: Comparison of Current Methods with MLPA and Real-time RT-PCR

, 2013
Reza Pazhoomand, Elahe Keyhan, Mehdi Banan, H Najmabad, Masoud Karimlou, Faranak Khodadad, Alireza Iraniparast, Farnaz Feiz, Keivan Majidzadeh‐A, Ideh Bahman, Fatemeh Aghakhani Moghadam, Atoosa Madadkar Sobhani, Sameem Abedin, Ahad Muhammadnejad, Farkhondeh Behjat   +14 more
openalex   +1 more source

Peer Review #1 of "MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism (v0.2)"

, 2019

openalex   +1 more source

Unexpected genomic architecture in a sporadic case of C1-INH Hereditary Angioedema: the hidden heritability. [PDF]

Orphanet J Rare Dis
Marchionni E, Mannucci L, Di Tommaso S, Nardone AM, Albanese M, Novelli A, Sangiuolo FC, Triggianese P, Novelli G.   +8 more
europepmc   +1 more source

(Epi)genotype-phenotype correlations of Beckwith-Wiedemann syndrome in China. [PDF]

Ital J Pediatr
Lan D, Zhang S, Li J, Wang Y, Dong C.
europepmc   +1 more source

MlpA, a lipoprotein required for normal development of Myxococcus xanthus

, 1995
William A. Hanlon, Magdalena Martínez‐Cañamero, Masayori Inouye, S Inouye   +3 more
openalex   +2 more sources