Detalhe da pesquisa
1.
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Hum Mutat
; 42(5): 626-638, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33644936
2.
Quantitative phosphoproteomic analysis of early seed development in rice (Oryza sativa L.).
Plant Mol Biol
; 90(3): 249-65, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26613898
3.
A comprehensive quantitative phosphoproteome analysis of rice in response to bacterial blight.
BMC Plant Biol
; 15: 163, 2015 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-26112675
4.
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.
Muscle Nerve
; 50(3): 333-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24488599
5.
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.
J Mol Diagn
; 26(6): 510-519, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38582400
6.
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Ann Clin Transl Neurol
; 10(11): 2092-2104, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37688281
7.
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping.
Neurol Genet
; 9(6): e200107, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38021397
8.
OsMADS6 plays an essential role in endosperm nutrient accumulation and is subject to epigenetic regulation in rice (Oryza sativa).
Plant J
; 64(4): 604-17, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20822505
9.
Low-Pass Genome Sequencing: Validation and Diagnostic Utility from 409 Clinical Cases of Low-Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray.
J Mol Diagn
; 22(6): 823-840, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32344035
10.
Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.
Ann Indian Acad Neurol
; 20(3): 302-308, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28904466
11.
A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.
Ann Clin Transl Neurol
; 1(9): 703-20, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25493284