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Publications by Giuliana Marcella Cardinale
Association of a Homozygous GCK Missense Mutation With Mild Diabetes
Molecular genetics & genomic medicine
Genetics
Molecular Biology
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A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family
British Journal of Dermatology
Dermatology
Medicine
A Novel Homozygous Missense Mutation in BHLHA9 Causes Mesoaxial Synostotic Syndactyly With Phalangeal Reduction in a Pakistani Family
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Homozygous Missense Mutation inIL36RNin Generalized Pustular Dermatosis With Intraoral Involvement Compatible With Both AGEP and Generalized Pustular Psoriasis
JAMA Dermatology
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Medicine
Phenotypic Expression of Heterozygous Lipoprotein Lipase Deficiency in the Extended Pedigree of a Proband Homozygous for a Missense Mutation.
Journal of Clinical Investigation
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Unreported RSK2 Missense Mutation in Two Male Sibs With an Unusually Mild Form of Coffin-Lowry Syndrome
Journal of Medical Genetics
Genetics
Missense Mutation in the USH2A Gene: Association With Recessive Retinitis Pigmentosa Without Hearing Loss
American Journal of Human Genetics
Genetics
Association of a Missense Mutation in the Bovine Leptin Gene With Carcass Fat Content and Leptin mRNA Levels
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Ecology
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Systematics
Animal Science
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Behavior
Zoology
GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation
Case Reports in Neurological Medicine
A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome
Human Genome Variation
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Molecular Biology