Novel seventeen basepair deletion in exon 3 of the beta-globin gene

Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation.

Haemophilia : the official journal of the World Federation of Hemophilia·2017

Mixed impact of Xpert(®) MTB/RIF on tuberculosis diagnosis in Cambodia.

Public health action·2016

Rollout of Xpert(®) MTB/RIF in Northwest Cambodia for the diagnosis of tuberculosis among PLHA.

Public health action·2015

Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.

International journal of laboratory hematology·2015

A double-blind, rct testing beneficial modulation of BDNF in middle-aged, life style-stressed subjects: a clue to brain protection?

Journal of clinical and diagnostic research : JCDR·2015

The utility of stool cultures for diagnosing tuberculosis in people living with the human immunodeficiency virus.

The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease·2013

Patient-Derived iPSC-Cardiomyocytes Reveal Subclinical Cardiomyocyte Dysfunction Associated With the CAV3 N-Terminal Variant p.Ala46Thr.

Human mutation·2026

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.

Human mutation·2026

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.

Human mutation·2026

Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.

Human mutation·2026

Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and Development.

Human mutation·2026

Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing Loss.

Human mutation·2026

Related Experiment Videos

Novel seventeen basepair deletion in exon 3 of the beta-globin gene

Related Concept Videos

Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation.

Mixed impact of Xpert(®) MTB/RIF on tuberculosis diagnosis in Cambodia.

Rollout of Xpert(®) MTB/RIF in Northwest Cambodia for the diagnosis of tuberculosis among PLHA.

Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.

A double-blind, rct testing beneficial modulation of BDNF in middle-aged, life style-stressed subjects: a clue to brain protection?

The utility of stool cultures for diagnosing tuberculosis in people living with the human immunodeficiency virus.

Patient-Derived iPSC-Cardiomyocytes Reveal Subclinical Cardiomyocyte Dysfunction Associated With the CAV3 N-Terminal Variant p.Ala46Thr.

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.

Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.

Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and Development.

Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing Loss.

Related Experiment Videos

Novel seventeen basepair deletion in exon 3 of the beta-globin gene

Related Concept Videos

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