Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Annals of the Rheumatic Diseases|April 16, 2003
Familial Mediterranean fever associated pyrin mutations in GreeceK Konstantopoulos, A Kanta, C Deltas, et al.
European Journal of Human Genetics : EJHG|September 26, 2001
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease familiesI Bouba, M Koptides, R Mean, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1997
Cytogenetic and fragile X molecular testing of individuals with mental retardation of unknown etiologyP C Patsalis, C Sismani, M I Hadjimarcou, et al.
Journal of Endocrinological Investigation|March 23, 2011
RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2V Neocleous, N Skordis, G Portides, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 27, 1998
Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneityA Fuchshuber, C C Deltas, S Berthold, et al.
Clinical Genetics|February 22, 2011
X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5P Demosthenous, K Voskarides, K Stylianou, et al.
Genomics|June 13, 2001
Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the regionA Fuchshuber, S Kroiss, S Karle, et al.
Annals of the Rheumatic Diseases|March 17, 2004
Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patientsK Ritis, S Giaglis, N Spathari, et al.
Science (New York, N.Y.)|May 31, 1996
PKD2, a gene for polycystic kidney disease that encodes an integral membrane proteinT Mochizuki, G Wu, T Hayashi, et al.
Clinical Genetics|June 21, 2017
Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosisL Papazachariou, G Papagregoriou, D Hadjipanagi, et al.
Pageof 4