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Publications by Duran Üstek

A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Investigation of ErbB and Insulin Signaling Pathways on the Pathogenesis of Multiple Myeloma

Haseki Tip Bulteni

Medicine

2018

English

Related publications

Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene

Case Reports in Pediatrics

2011

English

Congenital Primary Hypothyroidism With the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-Sized Thyroid Gland on Levothyroxine Replacement

Internal Medicine

Medicine

2019

English

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

Clinical Pediatric Endocrinology

English

A Novel Homozygous Nonsense Mutation (p.y78*) in Tmprss6 Gene Causing Iron-Refractory Iron Deficiency Anemia (Irida) in Two Siblings

Turkish Journal of Pediatrics

English

Mutation Screening of the Thyroid Peroxidase Gene in a Cohort of 55 Portuguese Patients With Congenital Hypothyroidism

European Journal of Endocrinology

English

Autosomal Recessive Primary Generalized Dystonia in Two Siblings From a Consanguineous Family

Movement Disorders

Neurology

2004

English

A Novel Nonsense ATP2C1 Mutation Causes Hailey-Hailey Disease in a Tunisian Family

Our Dermatology Online

2018

English

A Homozygous COL6A2 Intron Mutation Causes In-Frame Triple-Helical Deletion and Nonsense-Mediated mRNA Decay in a Patient With Ullrich Congenital Muscular Dystrophy

Human Genetics

Genetics

2005

English

Exome Sequencing in a Consanguineous Family Clinically Diagnosed With Early-Onset Alzheimer's Disease Identifies a Homozygous CTSF Mutation

Neurobiology of Aging

Aging

Gerontology

Developmental Biology

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Duran Üstek

A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family

Investigation of ErbB and Insulin Signaling Pathways on the Pathogenesis of Multiple Myeloma

Related publications

Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene

Congenital Primary Hypothyroidism With the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-Sized Thyroid Gland on Levothyroxine Replacement

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

A Novel Homozygous Nonsense Mutation (p.y78*) in Tmprss6 Gene Causing Iron-Refractory Iron Deficiency Anemia (Irida) in Two Siblings

Mutation Screening of the Thyroid Peroxidase Gene in a Cohort of 55 Portuguese Patients With Congenital Hypothyroidism

Autosomal Recessive Primary Generalized Dystonia in Two Siblings From a Consanguineous Family

A Novel Nonsense ATP2C1 Mutation Causes Hailey-Hailey Disease in a Tunisian Family

A Homozygous COL6A2 Intron Mutation Causes In-Frame Triple-Helical Deletion and Nonsense-Mediated mRNA Decay in a Patient With Ullrich Congenital Muscular Dystrophy

Exome Sequencing in a Consanguineous Family Clinically Diagnosed With Early-Onset Alzheimer's Disease Identifies a Homozygous CTSF Mutation