Clinical features and targeted next-generation sequencing of idiopathic early onset epileptic encephalopathy in 68 patients

Journal of the Neurological Sciences ◽

10.1016/j.jns.2019.10.308 ◽

2019 ◽

Vol 405 ◽

pp. 50

Author(s):

A. Arafat

Keyword(s):

Next Generation Sequencing ◽

Clinical Features ◽

Early Onset ◽

Epileptic Encephalopathy ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy

Acta Neurologica Belgica ◽

10.1007/s13760-016-0709-z ◽

2016 ◽

Vol 117 (1) ◽

pp. 131-138 ◽

Author(s):

Sarenur Gokben ◽

Huseyin Onay ◽

Sanem Yilmaz ◽

Tahir Atik ◽

Gul Serdaroglu ◽

...

Keyword(s):

Next Generation Sequencing ◽

Early Onset ◽

Diagnostic Value ◽

Epileptic Encephalopathy ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Clinical features of Chinese patients with Gerstmann–Sträussler–Scheinker identified by targeted next-generation sequencing

Neurobiology of Aging ◽

10.1016/j.neurobiolaging.2016.09.018 ◽

2017 ◽

Vol 49 ◽

pp. 216.e1-216.e5 ◽

Author(s):

Hong-Fu Li ◽

Zhi-Jun Liu ◽

Hai-Lin Dong ◽

Juan-Juan Xie ◽

Shao-Yun Zhao ◽

...

Keyword(s):

Next Generation Sequencing ◽

Clinical Features ◽

Chinese Patients ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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A Targeted Next Generation Sequencing Panel for Non-syndromic Early Onset Severe Obesity and Identification of Novel Likely -Pathogenic Variants in the MC4R and LEP Genes

The Indian Journal of Pediatrics ◽

10.1007/s12098-019-03129-6 ◽

2020 ◽

Vol 87 (2) ◽

pp. 105-110 ◽

Author(s):

Vaman Khadilkar ◽

Nikhita Gogate ◽

Priyanka Gangodkar ◽

Shatakshi Ranade ◽

Nikhil Lohiya ◽

...

Keyword(s):

Next Generation Sequencing ◽

Early Onset ◽

Severe Obesity ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Pathogenic Variants ◽

Generation Sequencing

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Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing

CNS Neuroscience & Therapeutics ◽

10.1111/cns.12972 ◽

2018 ◽

Vol 25 (1) ◽

pp. 21-29 ◽

Author(s):

Hai-Lin Dong ◽

Yin Ma ◽

Quan-Fu Li ◽

Yi-Chu Du ◽

Lu Yang ◽

...

Keyword(s):

Next Generation Sequencing ◽

Clinical Features ◽

Chinese Patients ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer

PLoS Genetics ◽

10.1371/journal.pgen.1007355 ◽

2018 ◽

Vol 14 (4) ◽

pp. e1007355 ◽

Author(s):

Paula Paulo ◽

Sofia Maia ◽

Carla Pinto ◽

Pedro Pinto ◽

Augusta Monteiro ◽

...

Keyword(s):

Prostate Cancer ◽

Next Generation Sequencing ◽

Early Onset ◽

Germline Mutations ◽

Next Generation ◽

Novel Genes ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Undefined early onset epileptic encephalopathy: Next generation sequencing and phenotype expansion, an approach towards a better tomorrow

Journal of the Neurological Sciences ◽

10.1016/j.jns.2017.08.522 ◽

2017 ◽

Vol 381 ◽

pp. 181

Author(s):

A. Arafat ◽

Y. Fei

Keyword(s):

Next Generation Sequencing ◽

Early Onset ◽

Epileptic Encephalopathy ◽

Next Generation ◽

Generation Sequencing

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Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing

The American Journal of Cardiology ◽

10.1016/j.amjcard.2016.06.037 ◽

2016 ◽

Vol 118 (6) ◽

pp. 888-894 ◽

Author(s):

Lijun Fu ◽

Sushan Luo ◽

Shuang Cai ◽

Wenjing Hong ◽

Ying Guo ◽

...

Keyword(s):

Next Generation Sequencing ◽

Hypertrophic Cardiomyopathy ◽

Early Onset ◽

Next Generation ◽

Danon Disease ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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TARGETED NEXT GENERATION SEQUENCING PID PANEL IDENTIFIES A NOVEL NONSENSE CARD11 MUTATION TREATED SUCCESSFULLY WITH PHENOIDENTICAL HEMATOPOIETIC STEM CELL TRANSPLANT WITHOUT CONDITIONING

10.26226/morressier.57bc1757d462b80290b4cfb3 ◽

2016 ◽

Author(s):

Bashayer Alrasheed

Keyword(s):

Stem Cell ◽

Next Generation Sequencing ◽

Hematopoietic Stem Cell ◽

Hematopoietic Stem Cell Transplant ◽

Stem Cell Transplant ◽

Cell Transplant ◽

Next Generation ◽

Hematopoietic Stem ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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PATHOGENIC GENETIC VARIANTS IDENTIFIED BY TARGETED NEXT-GENERATION SEQUENCING IN SOME UNDEFINED PRIMARY IMMUNODEFICIENCY CASES (IZMIR EXPERIENCE)

10.26226/morressier.594a7d45d462b8028d89348d ◽

2017 ◽

Author(s):

Kutukculer Necil

Keyword(s):

Next Generation Sequencing ◽

Primary Immunodeficiency ◽

Genetic Variants ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Faculty Opinions recommendation of Targeted next-generation sequencing of head and neck squamous cell carcinoma identifies novel genetic alterations in HPV+ and HPV- tumors.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718014371.793495250 ◽

2014 ◽

Author(s):

Jean-Pascal Machiels

Keyword(s):

Squamous Cell Carcinoma ◽

Next Generation Sequencing ◽

Cell Carcinoma ◽

Head And Neck ◽

Squamous Cell ◽

Genetic Alterations ◽

Neck Squamous Cell Carcinoma ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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