Detalhe da pesquisa
1.
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Clin Genet
; 105(6): 639-654, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374498
2.
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.
Am J Med Genet A
; 191(8): 2175-2180, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37337996
3.
Further delineation of KIF21B-related neurodevelopmental disorders.
J Hum Genet
; 67(12): 729-733, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36198761
4.
A Decision Support System for Diagnosis of COVID-19 from Non-COVID-19 Influenza-like Illness Using Explainable Artificial Intelligence.
Bioengineering (Basel)
; 10(4)2023 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37106626
5.
Artificial intelligence for diagnosis of mild-moderate COVID-19 using haematological markers.
Ann Med
; 55(1): 2233541, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37436038
6.
COVID-19 diagnosis using clinical markers and multiple explainable artificial intelligence approaches: A case study from Ecuador.
SLAS Technol
; 28(6): 393-410, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37689365
7.
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Eur J Hum Genet
; 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38114583
8.
Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.
Eur J Med Genet
; 65(6): 104481, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35398349
9.
Clinical and Laboratory Approach to Diagnose COVID-19 Using Machine Learning.
Interdiscip Sci
; 14(2): 452-470, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35133633
10.
Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect.
BMJ Case Rep
; 14(6)2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34083181