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UnknownExome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.
Not available
S-EPMC3157539 | biostudies-literature
UnknownA novel intergenic ETnII-β insertion mutation causes multiple malformations in polypodia mice.
Not available
S-EPMC3854779 | biostudies-literature
UnknownKANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
Not available
S-EPMC4497755 | biostudies-literature
UnknownWhole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Not available
S-EPMC3972265 | biostudies-literature
UnknownARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
Not available
S-EPMC3726174 | biostudies-literature
UnknownHistone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Not available
S-EPMC7821880 | biostudies-literature
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