Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by S. Sanjad
1201 Whole Exon Deletion in the Claudin 16 Gene, a Novel Mutation in Familial Hypomagnesemia/Hypercalciuria/Nephrocalcinosis (FHHNC) and Sensorineural Deafness (SND)
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology
Related publications
X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats
American Journal of Human Genetics
Genetics
Detection of a Novel Exon 4 Low-Density Lipoprotein Receptor Gene Deletion in a Swiss Family With Severe Familial Hypercholesterolemia
Clinical Chemistry and Laboratory Medicine
Biochemistry
Medicine
Clinical Biochemistry
Autosomal Dominant Familial Hypoparathyroidism and Sensorineural Deafness Without Renal Dysplasia
European Journal of Endocrinology
Medicine
Endocrinology
Metabolism
Diabetes
Syndromic Congenital Sensorineural Deafness, Microtia and Microdontia Resulting From a Novel Homoallelic Mutation in Fibroblast Growth Factor 3 (FGF3)
European Journal of Human Genetics
Genetics
Deletion of Claudin-10 (Cldn10) in the Thick Ascending Limb Impairs Paracellular Sodium Permeability and Leads to Hypermagnesemia and Nephrocalcinosis
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family
Brazilian Journal of Medical and Biological Research
Immunology
Cell Biology
Pharmacology
Biochemistry
Biophysics
Neuroscience
Medicine
Toxicology
Physiology
Pharmaceutics
A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma
Archives of Dermatology
Prevalence of the Mitochondrial DNA A1555G Mutation in Sensorineural Deafness Patients in Island Southeast Asia
Journal of Human Genetics
Genetics
Visual Impairment in Severe and Profound Sensorineural Deafness.
Archives of Disease in Childhood
Child Health
Pediatrics
Perinatology