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Publications by B. Goodwin

A Novel Mutation in the TG Gene (G2322S) Causing Congenital Hypothyroidism in a Sudanese Family: A Case Report

BMC Medical Genetics

English

The Nuclear Receptor PXR Is a Lithocholic Acid Sensor That Protects Against Liver Toxicity

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

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A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Frontiers in Genetics

Molecular Medicine

English

A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly

Frontiers in Genetics

Molecular Medicine

English

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

Clinical Pediatric Endocrinology

English

Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene

Case Reports in Pediatrics

English

A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family

Brazilian Journal of Medical and Biological Research

English

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

Frontiers in Pediatrics

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Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia

Seminars in Thrombosis and Hemostasis

Cardiovascular Medicine

English

A Novel Frameshift Mutation in the XPC Gene in a Moroccan Patient: A Case Report

Journal of Medical Case Reports

English

A Novel MIP Gene Mutation Analysis in a Chinese Family Affected With Congenital Progressive Punctate Cataract

Multidisciplinary

English