Identification of a new beta-thalassemia nonsense mutation [codon 59 (AAG-->TAG)]

Hb F-SickKids (HBG2: C.308A > G): A Novel γ-Globin Variant Associated with Transient Neonatal Cyanosis.

Hemoglobin·2026

Choosing wisely-directed HFE testing improves diagnostic yield and test utilization in hereditary hemochromatosis.

Clinical biochemistry·2026

Variable Treatment Effects of Cranial Surgery in Pediatric Severe Traumatic Brain Injury.

Neurosurgery·2026

Emergency Medical Services Time on Scene Associated with Reduced Dead-on-Arrival Status Among Pediatric Patients with Severe Traumatic Brain Injury.

Prehospital emergency care·2025

Pott's puffy tumor in the post-COVID era.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·2025

Neuro-ophthalmic clues affecting the surgical approach to a brain tumor: the case of a craniopharyngioma masquerader.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·2025

Hemoglobin E Associated with Hemoglobin Constant Spring: Diagnostic Challenges in Heterozygous and Homozygous States.

Hemoglobin·2026

An Unusual Presentation of Erythrocytosis Resulting in the Identification of a Novel Unstable Hemoglobin Variant: Hb Koskullskulle HBB: C.311T > C (p.Phe104Ser).

Hemoglobin·2026

Hematologic Indices of Hemoglobin D Co-Inheritance with α and β Thalassemia: A Comparative Study of 202 Patients.

Hemoglobin·2026

The Efficiency of Capillarys 2 Flex Piercing, Premier Resolution-HPLC, and VARIANT II-HPLC for Hemoglobin Constant Spring Detection.

Hemoglobin·2026

Tailoring Genetic Approaches for Easier Detection of Anti-3.7 Alpha-Globin Gene Triplication in the Iranian Population.

Hemoglobin·2026

Microcytic Anemia with Low HbA2 and Normal HbA: Two Cases of Rare Thalassemia.

Hemoglobin·2026

Sporadic Retinal Astrocytic Hamartoma Mimicking Retinoblastoma in a Child: A Case Report and Literature Review.

Clinical case reports·2026

Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms.

The American journal of case reports·2026

Characterisation of the Novel HLA-A*32:207 Allele by Sequencing-Based Typing.

HLA·2026

Discovery of the Novel HLA-DQB1*05:386 Allele in a Brazilian Volunteer Donor.

HLA·2026

Identification of the Novel HLA-B*57:212 Allele by Next-Generation Sequencing.

HLA·2026

Characterisation of the Novel HLA-DRB3*01:127 Allele by Next-Generation Sequencing.

HLA·2026

Related Experiment Videos

Identification of a new beta-thalassemia nonsense mutation [codon 59 (AAG-->TAG)]

Related Concept Videos

Hb F-SickKids (HBG2: C.308A > G): A Novel γ-Globin Variant Associated with Transient Neonatal Cyanosis.

Choosing wisely-directed HFE testing improves diagnostic yield and test utilization in hereditary hemochromatosis.

Variable Treatment Effects of Cranial Surgery in Pediatric Severe Traumatic Brain Injury.

Emergency Medical Services Time on Scene Associated with Reduced Dead-on-Arrival Status Among Pediatric Patients with Severe Traumatic Brain Injury.

Pott's puffy tumor in the post-COVID era.

Neuro-ophthalmic clues affecting the surgical approach to a brain tumor: the case of a craniopharyngioma masquerader.

Hemoglobin E Associated with Hemoglobin Constant Spring: Diagnostic Challenges in Heterozygous and Homozygous States.

An Unusual Presentation of Erythrocytosis Resulting in the Identification of a Novel Unstable Hemoglobin Variant: Hb Koskullskulle HBB: C.311T > C (p.Phe104Ser).

Hematologic Indices of Hemoglobin D Co-Inheritance with α and β Thalassemia: A Comparative Study of 202 Patients.

The Efficiency of Capillarys 2 Flex Piercing, Premier Resolution-HPLC, and VARIANT II-HPLC for Hemoglobin Constant Spring Detection.

Tailoring Genetic Approaches for Easier Detection of Anti-3.7 Alpha-Globin Gene Triplication in the Iranian Population.

Microcytic Anemia with Low HbA2 and Normal HbA: Two Cases of Rare Thalassemia.

Sporadic Retinal Astrocytic Hamartoma Mimicking Retinoblastoma in a Child: A Case Report and Literature Review.

Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms.

Characterisation of the Novel HLA-A*32:207 Allele by Sequencing-Based Typing.

Discovery of the Novel HLA-DQB1*05:386 Allele in a Brazilian Volunteer Donor.

Identification of the Novel HLA-B*57:212 Allele by Next-Generation Sequencing.

Characterisation of the Novel HLA-DRB3*01:127 Allele by Next-Generation Sequencing.

Related Experiment Videos

Identification of a new beta-thalassemia nonsense mutation [codon 59 (AAG-->TAG)]

Related Concept Videos

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