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Klotho Overexpression Is Frequently Associated With Upstream Rearrangements in Fusion-Negative Phosphaturic Mesenchymal Tumors of Bone and Sinonasal Tract

Modern pathology, 2023-12, Vol.36 (12), p.100336-100336, Article 100336

2023

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Antimicrobial resistance patterns in Streptococcus dysgalactiae in a One Health perspective

Frontiers in microbiology, 2024-06, Vol.15, p.1423762

2024

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Emergence of Inducible Macrolide Resistance in Mycobacterium chelonae Due to Broad-Host-Range Plasmid and Chromosomal Variants of the Novel 23S rRNA Methylase Gene, erm (55)

Journal of clinical microbiology, 2023-07, Vol.61 (7), p.e0042823-e0042823

2023

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Non-invasive Prenatal Testing, What Patients Do Not Learn, May Be Due to Lack of Specialist Genetic Training by Gynecologists and Obstetricians?

Frontiers in genetics, 2021-06, Vol.12, p.682980-682980

Liehr, Thomas

2021

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Case Report: A novel IRF2BP2 mutation in an IEI patient with recurrent infections and autoimmune disorders

Frontiers in immunology, 2023-06, Vol.14, p.967345-967345

2023

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Frequent Methicillin-Resistant Staphylococcus aureus Introductions Into an Inner-city Jail: Indications of Community Transmission Networks

Clinical infectious diseases, 2020-07, Vol.71 (2), p.323-331

2020

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"I want to know what's in Pandora's box": Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing

American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2519-2525

2012

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First parechovirus reported case in Saudi Arabia in hospitalized immunocompromised adult patient

Virology journal, 2024-05, Vol.21 (1), p.102-102, Article 102

2024

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Assessing the Costs and Cost-Effectiveness of Genomic Sequencing

Journal of personalized medicine, 2015-12, Vol.5 (4), p.470-486

2015

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Frozen Vegetable Processing Plants Can Harbour Diverse Listeria monocytogenes Populations: Identification of Critical Operations by WGS

Foods, 2022-05, Vol.11 (11), p.1546

2022

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Genomic characterization of enteropathogenic Escherichia coli (EPEC) of avian origin and rabbit ileal loop response; a pet macaw ( Ara chloropterus ) as a possible zoonotic reservoir

The Veterinary quarterly, 2020-01, Vol.40 (1), p.331-341

2020

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Next-Generation Sequencing Whole-Genome Analysis for Targeted Treatment Approach of Metastatic Bartholin Gland Adenocarcinoma: An Emblematic Case Report and Review of the Literature

Diagnostics (Basel), 2021-11, Vol.11 (11), p.2085

2021

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Premier cas de séquençage complet du génome dans le cancer de la prostate

Progrès en urologie (Paris), 2014-12, Vol.24 (16), p.1041-1042

2014

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Genomic characterization of enteropathogenic Escherichia coli (EPEC) of avian origin and rabbit ileal loop response; a pet macaw (Ara chloropterus) as a possible zoonotic reservoir

Veterinary Quarterly, 2020, Vol.40 (1), p.331-341

2020

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Approach to the Differential Diagnosis of Cerebellar Ataxias

Handbook of the Cerebellum and Cerebellar Disorders, 2022, p.2053-2075

2022

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Whole genomic analysis of human and bovine G8P[1] rotavirus strains isolated in Nigeria provides evidence for direct bovine-to-human interspecies transmission

Infection, genetics and evolution, 2016-09, Vol.43, p.424-433

2016

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Genomic Analysis of Rwandan G9P[8] Rotavirus Strains Pre- and Post-RotaTeq ® Vaccine Reveals Significant Distinct Sub-Clustering in a Post-Vaccination Cohort

Viruses, 2023-11, Vol.15 (12), p.2321

2023

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Genomic characterization of uncommon human G3P[6] rotavirus strains that have emerged in Kenya after rotavirus vaccine introduction, and pre-vaccine human G8P[4] rotavirus strains

Infection, genetics and evolution, 2019-03, Vol.68, p.231-248

2019

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The Complement and Coagulation Cascades Pathway is Associated with Acute Necrotizing Pancreatitis by Genomics and Proteomics Analysis

Journal of inflammation research, 2022-04, Vol.15, p.2349-2363

2022

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Genomic analysis-integrated whole-exome sequencing of neuroblastomas identifies genetic mutations in axon guidance pathway

Oncotarget, 2017-08, Vol.8 (34), p.56684-56697

2017

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Analysis of ALPL gene variant in a patient with infantile hypophosphatasia

Zhonghua yi xue yi chuan xue za zhi, 2021-05, Vol.38 (5), p.481

2021

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The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery, 2024-05, Vol.59 (5), p.455

2024

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Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency

Zhonghua yi xue yi chuan xue za zhi, 2022-04, Vol.39 (4), p.413

2022

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Whole exome sequencing analysis of a patient with 45,X/46,XY mosaicism and autism spectrum disorder

Zhonghua yi xue yi chuan xue za zhi, 2022-03, Vol.39 (3), p.297

2022

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Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene

Zhonghua yi xue yi chuan xue za zhi, 2022-01, Vol.39 (1), p.48

2022

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Klotho Overexpression Is Frequently Associated With Upstream Rearrangements in Fusion-Negative Phosphaturic Mesenchymal Tumors of Bone and Sinonasal Tract

Antimicrobial resistance patterns in Streptococcus dysgalactiae in a One Health perspective

Emergence of Inducible Macrolide Resistance in Mycobacterium chelonae Due to Broad-Host-Range Plasmid and Chromosomal Variants of the Novel 23S rRNA Methylase Gene, erm (55)

Non-invasive Prenatal Testing, What Patients Do Not Learn, May Be Due to Lack of Specialist Genetic Training by Gynecologists and Obstetricians?

Case Report: A novel IRF2BP2 mutation in an IEI patient with recurrent infections and autoimmune disorders

Frequent Methicillin-Resistant Staphylococcus aureus Introductions Into an Inner-city Jail: Indications of Community Transmission Networks

"I want to know what's in Pandora's box": Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing

First parechovirus reported case in Saudi Arabia in hospitalized immunocompromised adult patient

Assessing the Costs and Cost-Effectiveness of Genomic Sequencing

Frozen Vegetable Processing Plants Can Harbour Diverse Listeria monocytogenes Populations: Identification of Critical Operations by WGS

Genomic characterization of enteropathogenic Escherichia coli (EPEC) of avian origin and rabbit ileal loop response; a pet macaw ( Ara chloropterus ) as a possible zoonotic reservoir

Next-Generation Sequencing Whole-Genome Analysis for Targeted Treatment Approach of Metastatic Bartholin Gland Adenocarcinoma: An Emblematic Case Report and Review of the Literature

Premier cas de séquençage complet du génome dans le cancer de la prostate

Genomic characterization of enteropathogenic Escherichia coli (EPEC) of avian origin and rabbit ileal loop response; a pet macaw (Ara chloropterus) as a possible zoonotic reservoir

Approach to the Differential Diagnosis of Cerebellar Ataxias

Whole genomic analysis of human and bovine G8P[1] rotavirus strains isolated in Nigeria provides evidence for direct bovine-to-human interspecies transmission

Genomic Analysis of Rwandan G9P[8] Rotavirus Strains Pre- and Post-RotaTeq ® Vaccine Reveals Significant Distinct Sub-Clustering in a Post-Vaccination Cohort

Genomic characterization of uncommon human G3P[6] rotavirus strains that have emerged in Kenya after rotavirus vaccine introduction, and pre-vaccine human G8P[4] rotavirus strains

The Complement and Coagulation Cascades Pathway is Associated with Acute Necrotizing Pancreatitis by Genomics and Proteomics Analysis

Genomic analysis-integrated whole-exome sequencing of neuroblastomas identifies genetic mutations in axon guidance pathway

Analysis of ALPL gene variant in a patient with infantile hypophosphatasia

The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy

Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency

Whole exome sequencing analysis of a patient with 45,X/46,XY mosaicism and autism spectrum disorder

Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene

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