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Publications by Timothy E Lotze

Novel Cardiovascular Findings in Association With a POMT2 Mutation: Three Siblings With Α-Dystroglycanopathy

European Journal of Human Genetics

English

Related publications

Prenatal Bowel Findings in Male Siblings With a Confirmed FOXP3 Mutation

Journal of Ultrasound in Medicine

Nuclear Medicine

Ultrasound Technology

English

A Novel POMT2 Mutation Causes Mild Congenital Muscular Dystrophy With Normal Brain MRI

Brain and Development

Developmental Neuroscience

English

A Novel Mutation of Laminin Β2 (LAMB2) in Two Siblings With Renal Failure

European Journal of Pediatrics

English

Hyperimmunoglobulinaemia D Syndrome in India: Report of Two Siblings With a Novel Mutation

Annals of the Rheumatic Diseases

Molecular Biology

English

Association of Cardiovascular Trial Registration With Positive Study Findings

JAMA Internal Medicine

Internal Medicine

English

Two Siblings With Congenital Central Hypothyroidism Caused by a Novel Mutation in the IGSF1 Gene

Clinical Pediatric Endocrinology

English

Dyskeratosis Congenita Caused by a Novel TERT Point Mutation in Siblings With Pancytopenia and Exudative Retinopathy

Pediatric Blood and Cancer

English

Muscular Dystrophy With Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy

Journal of Neuromuscular Diseases

English

IPEX Syndrome in Siblings With a Novel Variant in FOXP3

Journal of Allergy and Clinical Immunology

English