Pediatría
Département
Istanbul University
Estambul, TurquíaPublications en collaboration avec des chercheurs de Istanbul University (5)
2017
2016
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Targeted next generation sequencing in patients with inborn errors of metabolism
PLoS ONE, Vol. 11, Núm. 5
2010
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Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
Proceedings of the National Academy of Sciences of the United States of America, Vol. 107, Núm. 7, pp. 3105-3110
1999
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Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
Nature Genetics, Vol. 21, Núm. 1, pp. 84-90
1997
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Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
Nature Genetics, Vol. 17, Núm. 2, pp. 171-178