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Publications by K Steindl

Two Novel Mutations Confirm FGD1 Is Responsible for the Aarskog Syndrome

European Journal of Human Genetics

English

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Novel Variant in the FGD1 Gene Causing Aarskog-Scott Syndrome

Experimental and Therapeutic Medicine

Cancer Research

English

Novel Mutations Confirm That COL11A2 Is Responsible for Autosomal Recessive Non-Syndromic Hearing Loss DFNB53

Molecular Genetics and Genomics

Molecular Biology

English

Two Novel Nonsense Mutations in GALNT3 Gene Are Responsible for Familial Tumoral Calcinosis

Journal of Human Genetics

English

Novel NKX2-5 Mutations Responsible for Congenital Heart Disease

Cardiovascular Medicine

English

Novel NKX2-5 Mutations Responsible for Congenital Heart Disease

Genetics and Molecular Research

Molecular Biology

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Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

American Journal of Human Genetics

English

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

American Journal of Human Genetics

English

Two Novel NPHS1 Mutations in a Chinese Family With Congenital Nephrotic Syndrome

Genetics and Molecular Research

Molecular Biology

English

Chronic Fatigue Syndrome: Is the Biopsychosocial Model Responsible for Patient Dissatisfaction and Harm?

British Journal of General Practice

Family Practice

English