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Publications by Joachim Pohlenz
Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene
Case Reports in Pediatrics
Linking C5 Deficiency to an Exonic Splicing Enhancer Mutation
Journal of Immunology
Allergy
Immunology
Related publications
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
Congenital Myasthenic Syndrome Due to Mutation in CHRNE Gene
Child Neurology
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
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
Genetic Causes of Congenital Hypothyroidism Due to Dyshormonogenesis
Current Opinion in Pediatrics
Child Health
Pediatrics
Perinatology
Homozygous Loss-Of-Function Mutations in SLC26A7 Cause Goitrous Congenital Hypothyroidism
Yearbook of Paediatric Endocrinology
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs
Diagnosis: Congenital Dyserythropoietic Anemia Type 2 Due to Compound Heterozygote Mutation in SEC23B Gene
Turkish Journal of Haematology
Hematology
A Novel Mutation in the TG Gene (G2322S) Causing Congenital Hypothyroidism in a Sudanese Family: A Case Report
BMC Medical Genetics
Genetics
