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Optical Genome Mapping in Prenatal Diagnosis: Democratizing Comprehensive Cytogenomic Testing

Clinical chemistry (Baltimore, Md.), 2024-06, Vol.70 (6), p.783-785

2024

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Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing

Molecular genetics & genomic medicine, 2024-03, Vol.12 (3), p.e2349-n/a

2024

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Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations

The American journal of surgical pathology, 2024-01, Vol.48 (1), p.106-111

2024

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Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant

Journal of child neurology, 2022-05, Vol.37 (6), p.517-523

2022

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Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups

Archives of pathology & laboratory medicine (1976), 2024-10, Vol.148 (10), p.1135-1144

2024

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Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series

Pediatric neurology, 2023-05, Vol.142, p.47-50

2023

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A Decade’s Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties

The Journal of molecular diagnostics : JMD, 2022-09, Vol.24 (9), p.1031-1040

2022

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Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements

Cancers, 2023-09, Vol.15 (17), p.4394

2023

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Clinical Cytogenetics: Current Practices and Beyond

The journal of applied laboratory medicine, 2024-01, Vol.9 (1), p.61-75

2024

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Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined

Frontiers in oncology, 2024-09, Vol.14, p.1453309

2024

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Germline susceptibility from broad genomic profiling of pediatric brain cancers

Neuro-oncology advances, 2024-01, Vol.6 (1), p.vdae099

2024

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Somatic variation as an incidental finding in the pediatric next-generation sequencing era

Cold Spring Harbor molecular case studies, 2021-12, Vol.7 (6), p.a006135

2021

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Gestational and pregestational diabetes mellitus in Omani women : comparison of obstetric and perinatal outcomes

Sultan Qaboos University medical journal, 2015-11, Vol.15 (4), p.496-500

2015

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36. Significant copy number variants and loss of heterozygosity in Wilms Tumor: Insights from Nationwide Pediatric Oncology

Cancer genetics, 2024-08, Vol.286-287, p.S11-S12

2024

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40. Prioritization of defining and supportive diagnostic variants in pediatric tumors

Cancer genetics, 2024-08, Vol.286-287, p.S13-S13

2024

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Ruptured Rudimentary Horn Pregnancy Diagnosed by Preoperative Magnetic Resonance Imaging Resulting in Fetal Salvage

Sultan Qaboos University medical journal, 2015-08, Vol.15 (3), p.429-432

2015

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Multiple enteric duplication cysts in a twin fetus : diagnosis and management

Sultan Qaboos University medical journal, 2013-11, Vol.13 (4), p.593-596

2013

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Use of intravenous sulprostone for the termination of pregnancy with fetal death in second and early third trimester of pregnancy

Sultan Qaboos University medical journal, 2008-11, Vol.8 (3), p.306-309

2008

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Asymptomatic ovarian mucinous cystadenoma with a solid mural leiomyoma : case report and brief review

Sultan Qaboos University medical journal, 2013-02, Vol.13 (1), p.127-131

2013

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Caudal regression syndrome with partial agenesis of the corpus callosum and partial lobar holoprosencephaly : case report

Sultan Qaboos University medical journal, 2010, Vol.10 (1), p.89-93

2010

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Metastatic malignant melanoma during pregnancy : case report and a review of the literature

Sultan Qaboos University medical journal, 2009-04, Vol.9 (1), p.79-83

2009

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Replacement of Hexachlorocyclohexane to Environmentally Friendly Biosurfactant as Precursor for the Production of Biosurfactant from Pseudomonas

Journal of microbiology and biotechnology, 2011-08, Vol.21 (8), p.858-860

2011

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Extracellular Vesicles as Biomarkers in Cancer Immunotherapy

Cancers, 2020-09, Vol.12 (10), p.2825

2020

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A Converter for Transmission With Singlemode Performance on OM2/3/4/5 Multimode Fibers

IEEE photonics technology letters, 2022-06, Vol.34 (11), p.571-574

2022

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Optical Genome Mapping in Prenatal Diagnosis: Democratizing Comprehensive Cytogenomic Testing

Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing

Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations

Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant

Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups

Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series

A Decade’s Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties

Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements

Clinical Cytogenetics: Current Practices and Beyond

Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined

Germline susceptibility from broad genomic profiling of pediatric brain cancers

Somatic variation as an incidental finding in the pediatric next-generation sequencing era

Gestational and pregestational diabetes mellitus in Omani women : comparison of obstetric and perinatal outcomes

36. Significant copy number variants and loss of heterozygosity in Wilms Tumor: Insights from Nationwide Pediatric Oncology

40. Prioritization of defining and supportive diagnostic variants in pediatric tumors

52. ClinGen Pediatric Cancer Taskforce initiatives to advance pediatric clinical interpretations through expert curation

Ruptured Rudimentary Horn Pregnancy Diagnosed by Preoperative Magnetic Resonance Imaging Resulting in Fetal Salvage

Multiple enteric duplication cysts in a twin fetus : diagnosis and management

Use of intravenous sulprostone for the termination of pregnancy with fetal death in second and early third trimester of pregnancy

Asymptomatic ovarian mucinous cystadenoma with a solid mural leiomyoma : case report and brief review

Caudal regression syndrome with partial agenesis of the corpus callosum and partial lobar holoprosencephaly : case report

Metastatic malignant melanoma during pregnancy : case report and a review of the literature

Replacement of Hexachlorocyclohexane to Environmentally Friendly Biosurfactant as Precursor for the Production of Biosurfactant from Pseudomonas

Extracellular Vesicles as Biomarkers in Cancer Immunotherapy

A Converter for Transmission With Singlemode Performance on OM2/3/4/5 Multimode Fibers

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