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Publications by Sitha A Scheltinga
Clinical and Biochemical Characteristics and Bone Mineral Density of Homozygous, Compound Heterozygous and Heterozygous Carriers of Three novelIGFALSmutations
European Journal of Endocrinology
Medicine
Endocrinology
Metabolism
Diabetes
Related publications
Phenotype in Homozygous and Heterozygous Carriers of BEST1 Mutations in Autosomal Recessive Bestrophinopathy
Acta Ophthalmologica
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Variability in Clinical Phenotypes of Heterozygous and Homozygous Cases ofParkin-related Parkinson's Disease
International Journal of Neuroscience
Medicine
Neuroscience
“Homozygous, and Compound Heterozygous Mutation in 3 Turkish Family With Jervell and Lange-Nielsen Syndrome: Case Reports”
BMC Medical Genetics
Genetics
Clinical Spectrum of Homozygous and Heterozygous PINK1 Mutations in a Large German Family With Parkinson Disease
Archives of Neurology
Congenital Hyperinsulinism: Clinical and Molecular Characterisation of Compound Heterozygous ABCC8 Mutation Responsive to Diazoxide Therapy
International Journal of Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
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Biochemical Bone Markers, Bone Mineral Content, and Bone Mineral Density in Rats With Experimental Nephrotic Syndrome
Renal Failure
Medicine
Nephrology
Critical Care
Intensive Care Medicine
Bone Mineral Density and Biochemical Markers of Bone Turnover in Childen Undergoing Capd.
Nihon Shoni Jinzobyo Gakkai Zasshi
Clinical Symptoms of Mucoviscidosis /Mv/in Gene Carriers. Is Incomplete Mv a Heterozygous State?
Pediatric Research
Child Health
Pediatrics
Perinatology
Phenotype and Genotype Report on Homozygous and Heterozygous Patients With Congenital Factor X Deficiency
Haematologica
Hematology
