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Publications by Niolette I. McGill
Mutations in SOX2 Cause Anophthalmia
Nature Genetics
Genetics
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Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus and Cleft Palate in Mice and Men
Journal of Clinical Endocrinology and Metabolism
Biochemistry
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Clinical Biochemistry
Medicine
Metabolism
Diabetes
ACTN1 Mutations Cause Congenital Macrothrombocytopenia
American Journal of Human Genetics
Genetics
LRIG2 Mutations Cause Urofacial Syndrome
American Journal of Human Genetics
Genetics
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
American Journal of Human Genetics
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Somatic Mutations in NEK9 Cause Nevus Comedonicus
American Journal of Human Genetics
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Anophthalmia and Microphthalmia
British Journal of Ophthalmology
Molecular Neuroscience
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Sensory Systems
Cellular
Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
American Journal of Human Genetics
Genetics
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
American Journal of Human Genetics
Genetics
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
American Journal of Human Genetics
Genetics