Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Matthias Volkmar Kopp
Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene
Case Reports in Pediatrics
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
