8 results on '"Benessy, France"'
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2. Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis
3. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
4. A 11 Mb YAC-Based Contig Spanning the Familial Juvenile Nephronophthisis Region (NPH1) Located on Chromosome 2q
5. Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome
6. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p
7. A Novel Gene that Encodes a Protein with a Putative src Homology 3 Domain is a Candidate Gene for Familial Juvenile Nephronophthisis.
8. Large Homozygous Deletions of the 2q13 Region Are a Major Cause of Juvenile Nephronophthisis.
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