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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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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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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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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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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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Whole genome sequencing–based copy number variations reveal novel pathways and targets in Alzheimer's disease

Alzheimer's & dementia, 2022-10, Vol.18 (10), p.1846-1867

2022

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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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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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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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Clinical and molecular genetic analysis of a patient with 3-M syndrome

Zhonghua yi xue yi chuan xue za zhi, 2021-12, Vol.38 (12), p.1237

2021

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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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Analysis of DNAH1 gene variant in two infertile males with multiple morphological abnormalities of sperm flagella

Zhonghua yi xue yi chuan xue za zhi, 2021-09, Vol.38 (9), p.849

2021

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Analysis of a child with congenital muscular dystrophy due to a novel variant of the LMNA gene

Zhonghua yi xue yi chuan xue za zhi, 2021-09, Vol.38 (9), p.857

2021

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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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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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Approach to the Differential Diagnosis of Cerebellar Ataxias

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

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Prevalence and Genomic Characterization of Brucella canis Strains Isolated from Kennels, Household, and Stray Dogs in Chile

Animals (Basel), 2020-11, Vol.10 (11), p.2073

2020

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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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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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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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Portrait of a cancer: mutational signature analyses for cancer diagnostics

BMC cancer, 2019-05, Vol.19 (1), p.457-457, Article 457

2019

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

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

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

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)

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

Whole genome sequencing–based copy number variations reveal novel pathways and targets in Alzheimer's disease

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

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

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

Clinical and molecular genetic analysis of a patient with 3-M syndrome

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

Analysis of DNAH1 gene variant in two infertile males with multiple morphological abnormalities of sperm flagella

Analysis of a child with congenital muscular dystrophy due to a novel variant of the LMNA gene

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

Analysis of ALPL gene variant in a patient with infantile hypophosphatasia

Approach to the Differential Diagnosis of Cerebellar Ataxias

Prevalence and Genomic Characterization of Brucella canis Strains Isolated from Kennels, Household, and Stray Dogs in Chile

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

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

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

Portrait of a cancer: mutational signature analyses for cancer diagnostics

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

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

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