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Publications by Serra EG

Homozygous Loss-Of-Function Mutations in SLC26A7 Cause Goitrous Congenital Hypothyroidism

Yearbook of Paediatric Endocrinology
2019English

Related publications

Congenital Goitrous Hypothyroidism Is Caused by Dysfunction of the Iodide Transporter SLC26A7

Communications Biology
GeneticsMolecular BiologyBiochemistryBiological SciencesMedicineAgricultural
2019English

Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia

Nature
Multidisciplinary
2011English

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

American Journal of Human Genetics
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2019English

Congenital Central Hypothyroidism Due to a Homozygous Mutation in theTSHβSubunit Gene

Case Reports in Pediatrics
2011English

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

American Journal of Human Genetics
Genetics
2013English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics
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2010English

Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation

Molecular Medicine
Molecular MedicineGeneticsMolecular Biology
2010English

Novel PITX2c Loss-Of-Function Mutations Associated With Complex Congenital Heart Disease

International Journal of Molecular Medicine
MedicineGenetics
2014English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics
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2011English

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