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UnknownClinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.
Not available
S-EPMC6231313 | biostudies-literature
UnknownFurther delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.
Not available
S-EPMC4236574 | biostudies-literature
UnknownTranscriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.
Not available
S-EPMC4982685 | biostudies-literature
UnknownMonoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease-spectrum phenotype.
Not available
S-EPMC10894029 | biostudies-literature
UnknownLessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype.
Not available
S-EPMC9039465 | biostudies-literature
UnknownVariable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.
Not available
S-EPMC7710890 | biostudies-literature
UnknownInsights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.
Not available
S-EPMC5471164 | biostudies-literature
UnknownClinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
Not available
S-EPMC3653713 | biostudies-literature
UnknownArterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
Not available
S-EPMC4412100 | biostudies-literature
UnknownValidation of the Italian version of wisconsin stone quality of life (WISQOL): a prospective Italian multicenter study.
Not available
S-EPMC9716497 | biostudies-literature
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