Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the beta-globin gene

[Health status and quality of life in β-thalassemia adults in Marseille, France].

La Revue de medecine interne·2024

New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration.

Frontiers in physiology·2022

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Orphanet journal of rare diseases·2022

Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2020

Primary red cell hydration disorders: Pathogenesis and diagnosis.

International journal of laboratory hematology·2018

[NISCH syndrome, a rare cause of neonatal cholestasis: A case report].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2017

Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes.

Human mutation·2026

X;7 Translocation at p21.1 and q31.31 Disrupting DMD: A Multiomics Study of a Male Dystrophinopathy Case.

Human mutation·2026

A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss Risk.

Human mutation·2026

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Human mutation·2026

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

Human mutation·2026

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Human mutation·2026

Identification of the Novel HLA-G*01:01:39 Allele Using PolyseqOne Sequencing.

HLA·2026

Identification and Characterisation of a Novel HLA-DPB1*1985:01 Allele by Long-Read Sequencing.

HLA·2026

Splenomegaly With Thrombocytopenia: A Case of the Rare and Obvious.

Journal of pediatric hematology/oncology·2026

Characterisation of the Novel HLA-DPB1*1933:01 Allele by Sequencing-Based Typing.

HLA·2026

Characterisation of the Novel HLA-B*27:313 Allele by Sequencing-Based Typing.

HLA·2026

Humoral Immune Variability in Twin Sisters With SKIV2L-Associated Trichohepatoenteric Syndrome.

Cureus·2026

Related Experiment Videos

Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the beta-globin gene

Related Concept Videos

[Health status and quality of life in β-thalassemia adults in Marseille, France].

New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration.

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.

Primary red cell hydration disorders: Pathogenesis and diagnosis.

[NISCH syndrome, a rare cause of neonatal cholestasis: A case report].

Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes.

X;7 Translocation at p21.1 and q31.31 Disrupting DMD: A Multiomics Study of a Male Dystrophinopathy Case.

A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss Risk.

Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity Syndrome.

Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations.

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.

Identification of the Novel HLA-G*01:01:39 Allele Using PolyseqOne Sequencing.

Identification and Characterisation of a Novel HLA-DPB1*1985:01 Allele by Long-Read Sequencing.

Splenomegaly With Thrombocytopenia: A Case of the Rare and Obvious.

Characterisation of the Novel HLA-DPB1*1933:01 Allele by Sequencing-Based Typing.

Characterisation of the Novel HLA-B*27:313 Allele by Sequencing-Based Typing.

Humoral Immune Variability in Twin Sisters With SKIV2L-Associated Trichohepatoenteric Syndrome.

Related Experiment Videos

Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the beta-globin gene

Related Concept Videos

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