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Publications by Hakan Cangül
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
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Related publications
Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene
Case Reports in Pediatrics
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
Internal Medicine
Medicine
Two Siblings With Congenital Central Hypothyroidism Caused by a Novel Mutation in the IGSF1 Gene
Clinical Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
A Novel Homozygous Nonsense Mutation (p.y78*) in Tmprss6 Gene Causing Iron-Refractory Iron Deficiency Anemia (Irida) in Two Siblings
Turkish Journal of Pediatrics
Child Health
Pediatrics
Perinatology
Mutation Screening of the Thyroid Peroxidase Gene in a Cohort of 55 Portuguese Patients With Congenital Hypothyroidism
European Journal of Endocrinology
Medicine
Endocrinology
Metabolism
Diabetes
Autosomal Recessive Primary Generalized Dystonia in Two Siblings From a Consanguineous Family
Movement Disorders
Neurology
A Novel Nonsense ATP2C1 Mutation Causes Hailey-Hailey Disease in a Tunisian Family
Our Dermatology Online
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
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
Geriatrics
Neuroscience
Neurology
