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Publications by Schoenmakers N
Homozygous Loss-Of-Function Mutations in SLC26A7 Cause Goitrous Congenital Hypothyroidism
Yearbook of Paediatric Endocrinology
2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism
Yearbook of Paediatric Endocrinology
Related publications
Congenital Goitrous Hypothyroidism Is Caused by Dysfunction of the Iodide Transporter SLC26A7
Communications Biology
Genetics
Molecular Biology
Biochemistry
Biological Sciences
Medicine
Agricultural
Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia
Nature
Multidisciplinary
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia
American Journal of Human Genetics
Genetics
Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene
Case Reports in Pediatrics
ACTN1 Mutations Cause Congenital Macrothrombocytopenia
American Journal of Human Genetics
Genetics
Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
American Journal of Human Genetics
Genetics
Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation
Molecular Medicine
Molecular Medicine
Genetics
Molecular Biology
Novel PITX2c Loss-Of-Function Mutations Associated With Complex Congenital Heart Disease
International Journal of Molecular Medicine
Medicine
Genetics
Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
American Journal of Human Genetics
Genetics
