The spectrum of beta-thalassemia mutations in Azerbaijan

[Li-Fraumeni syndrome in adult patients with acute lymphoblastic leukemia].

Terapevticheskii arkhiv·2022

[Detection of activating mutations in RAS/RAF/MEK/ERK and JAK/STAT signaling pathways].

Terapevticheskii arkhiv·2020

Clonal Composition of Human Multipotent Mesenchymal Stromal Cells: Application of Genetic Barcodes in Research.

Biochemistry. Biokhimiia·2019

Literature review and clinical observation of acquired idiopathic hemophilia with a new missense mutation in the factor VIII gene (His2026Arg).

Terapevticheskii arkhiv·2019

Coinheritance of HbD-Punjab/β+-thalassemia (IVSI+5 G-C) in patient with Gilbert's syndrome.

Terapevticheskii arkhiv·2019

[Hereditary afibrinogenemia: A literature review and clinical observations].

Terapevticheskii arkhiv·2017

Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.

Human mutation·2026

First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion.

Human mutation·2026

TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.

Human mutation·2026

Association Between Mutation Context-Associated RUNX1 Transcriptional States and Immune-Stromal Heterogeneity in Nonsmall Cell Lung Cancer.

Human mutation·2026

The Role of Genetic Variation in Phenotypic Variability in Loeys-Dietz Syndrome.

Human mutation·2026

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Human mutation·2026

Multi-trait GWAS identifies pleiotropic loci shared between early pregnancy bleeding and psychiatric traits.

Frontiers in psychiatry·2026

Compound Heterozygous PCDH15 Variants Associated With Cone-Rod Dystrophy in a Chinese Pedigree.

Molecular genetics & genomic medicine·2026

Genetically Predicted Muscle Mass and Function in Relation to Deep Vein Thrombosis: A Two-step Mendelian Randomization Study Highlighting the Mediating Role of BMI.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·2026

Digital Kennison: A bioinformatics pipeline for rapid mapping of sequences to the Drosophila melanogaster Y chromosome.

G3 (Bethesda, Md.)·2026

Perioperative management of a patient with retrosternal giant goiter and Gitelman syndrome: a case report.

Frontiers in medicine·2026

Obesity and reduced renal corticomedullary differentiation on T1 mapping: a population-based UK Biobank study.

International urology and nephrology·2026

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The spectrum of beta-thalassemia mutations in Azerbaijan

Related Concept Videos

[Li-Fraumeni syndrome in adult patients with acute lymphoblastic leukemia].

[Detection of activating mutations in RAS/RAF/MEK/ERK and JAK/STAT signaling pathways].

Clonal Composition of Human Multipotent Mesenchymal Stromal Cells: Application of Genetic Barcodes in Research.

Literature review and clinical observation of acquired idiopathic hemophilia with a new missense mutation in the factor VIII gene (His2026Arg).

Coinheritance of HbD-Punjab/β+-thalassemia (IVSI+5 G-C) in patient with Gilbert's syndrome.

[Hereditary afibrinogenemia: A literature review and clinical observations].

Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.

First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion.

TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.

Association Between Mutation Context-Associated RUNX1 Transcriptional States and Immune-Stromal Heterogeneity in Nonsmall Cell Lung Cancer.

The Role of Genetic Variation in Phenotypic Variability in Loeys-Dietz Syndrome.

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Multi-trait GWAS identifies pleiotropic loci shared between early pregnancy bleeding and psychiatric traits.

Compound Heterozygous PCDH15 Variants Associated With Cone-Rod Dystrophy in a Chinese Pedigree.

Genetically Predicted Muscle Mass and Function in Relation to Deep Vein Thrombosis: A Two-step Mendelian Randomization Study Highlighting the Mediating Role of BMI.

Digital Kennison: A bioinformatics pipeline for rapid mapping of sequences to the Drosophila melanogaster Y chromosome.

Perioperative management of a patient with retrosternal giant goiter and Gitelman syndrome: a case report.

Obesity and reduced renal corticomedullary differentiation on T1 mapping: a population-based UK Biobank study.

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The spectrum of beta-thalassemia mutations in Azerbaijan

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