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Publications by Francesca Marta Elli
2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance
Frontiers in Endocrinology
Endocrinology
Metabolism
Diabetes
Related publications
Hemifacial Spasm in Albright''s Hereditary Osteodystrophy With Pseudopseudohypoparathyroidism and Nephrogenic Diabetes Insipidus
Neurologia Medico-Chirurgica
Surgery
Neurology
Paternal and Maternal Transmission of Pseudohypoparathyroidism Type Ia in a Family With Albright Hereditary Osteodystrophy: No Evidence of Genomic Imprinting.
Journal of Medical Genetics
Genetics
Molecular Analysis of the GNAS1 Gene for the Correct Diagnosis of Albright Hereditary Osteodystrophy and Pseudohypoparathyroidism
Pediatric Research
Child Health
Pediatrics
Perinatology
Genetic Deficiency of the Alpha Subunit of the Guanine Nucleotide-Binding Protein Gs as the Molecular Basis for Albright Hereditary Osteodystrophy.
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Genotype and Phenotype Analyses in 136 Patients With Single Large-Scale Mitochondrial DNA Deletions
Journal of Human Genetics
Genetics
Identifying Mixed Phenotype: Evaluating the Presence of Polyneuropathy in Patients With Hereditary Transthyretin-Mediated Amyloidosis With Cardiomyopathy
Journal of Cardiac Failure
Cardiovascular Medicine
Cardiology
Genotype/Phenotype Correlation in Hereditary Spherocytosis
Haematologica
Hematology
Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates With Unique Phenotype
Journal of the American Society of Nephrology : JASN
Medicine
Nephrology
Roles of Parathyroid Hormone (PTH) Receptor and Reactive Oxygen Species in Hyperlipidemia-Induced PTH Resistance in Preosteoblasts
Journal of Cellular Biochemistry
Biochemistry
Cell Biology
Molecular Biology
