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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Genetics in medicine, 2020-05, Vol.22 (5), p.945-953

2020

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Attenuation of yeast UPR is essential for survival and is mediated by IRE1 kinase

The Journal of cell biology, 2011-04, Vol.193 (1), p.41-50

2011

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Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Genetics in medicine, 2019-05, Vol.21 (5), p.1121-1130

2019

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Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Npj genomic medicine, 2019-02, Vol.4 (1), p.5-5, Article 5

2019

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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Genetics in medicine, 2019-08, Vol.21 (8), p.1797-1807

2019

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P636: Lp(a) genetic risk screening using genome sequencing

Genetics in Medicine Open, 2024, Vol.2, p.101542, Article 101542

2024

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P507: Implementation of automated pharmacogenomics reporting for a clinically validated whole genome sequencing test

Genetics in Medicine Open, 2023, Vol.1 (1), p.100554, Article 100554

2023

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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Cell genomics, 2023-02, Vol.3 (2), p.100258-100258, Article 100258

2023

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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Lancet neurology, 2022-03, Vol.21 (3), p.234-245

2022

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Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)

American journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.997-1000

2018

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A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family

Movement disorders clinical practice (Hoboken, N.J.), 2024-06, Vol.11 (6), p.746-748

2024

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Current Consensus on Drugs and Biologics against nCOVID-19 – A Systematic Review

International journal of current research and review, 2020, Vol.12 (9), p.26-35

2020

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The unfolded protein response

Current biology, 2005-11, Vol.15 (22), p.R907-R907

2005

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Regulation of Ire1 kinase and nuclease activity during the unfolded protein response

Chawla, Aditi

2008

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Impact of Duo-Mining in Knowledge Discovery Process

International Journal of Computer Science and Informatics, 2013-04, p.281-286

2013

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Robotic Brain Development: Automation and navigation

INTERACT-2010, 2010, p.318-320

2010

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Clinical Practice Guidelines (CPGs) for stroke rehabilitation from Low- and Middle-Income Countries (LMICs): Protocol for systematic review

PloS one, 2023-11, Vol.18 (11), p.e0293733-e0293733

2023

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Identification, Characterization, and Evaluation of Nematophagous Fungal Species of Arthrobotrys and Tolypocladium for the Management of Meloidogyne incognita

Frontiers in microbiology, 2021-12, Vol.12, p.790223-790223

2021

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A sustainable process for conversion of petrol engine vehicle to battery electric vehicle: A case study

Materials today : proceedings, 2021, Vol.38, p.432-437

2021

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Response surface methodology guided process optimizations, modeling and biofunctional analysis of phytochemicals from Nigella sativa seeds as a potential antifungal agent

Industrial crops and products, 2023-09, Vol.199, p.116695, Article 116695

2023

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Optimisation of patchoulol in the lipid-soluble concentrates of Pogostemon cablin using response surface methodology (RSM) coupled with genetic algorithms (GA)

Industrial crops and products, 2022-08, Vol.182, p.114826, Article 114826

2022

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Metabolomic profiling and its association with the bio-efficacy of Aspergillus niger strain against Fusarium wilt of guava

Frontiers in microbiology, 2023-04, Vol.14, p.1142144-1142144

2023

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Clinical Practice Guidelines : Protocol for systematic review

PloS one, 2023-11, Vol.18 (11), p.e0293733

2023

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Clinical Practice Guidelines

PloS one, 2023-11, Vol.18 (11), p.e0293733

2023

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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Attenuation of yeast UPR is essential for survival and is mediated by IRE1 kinase

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

P636: Lp(a) genetic risk screening using genome sequencing

P507: Implementation of automated pharmacogenomics reporting for a clinically validated whole genome sequencing test

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys)

A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family

Current Consensus on Drugs and Biologics against nCOVID-19 – A Systematic Review

The unfolded protein response

Regulation of Ire1 kinase and nuclease activity during the unfolded protein response

Impact of Duo-Mining in Knowledge Discovery Process

Robotic Brain Development: Automation and navigation

Clinical Practice Guidelines (CPGs) for stroke rehabilitation from Low- and Middle-Income Countries (LMICs): Protocol for systematic review

Identification, Characterization, and Evaluation of Nematophagous Fungal Species of Arthrobotrys and Tolypocladium for the Management of Meloidogyne incognita

A sustainable process for conversion of petrol engine vehicle to battery electric vehicle: A case study

Response surface methodology guided process optimizations, modeling and biofunctional analysis of phytochemicals from Nigella sativa seeds as a potential antifungal agent

Optimisation of patchoulol in the lipid-soluble concentrates of Pogostemon cablin using response surface methodology (RSM) coupled with genetic algorithms (GA)

Metabolomic profiling and its association with the bio-efficacy of Aspergillus niger strain against Fusarium wilt of guava

Clinical Practice Guidelines : Protocol for systematic review

Clinical Practice Guidelines

A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients

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