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BMC Medical Genomics, ISSN 1755-8794, 01/2019, Volume 12, Issue 1, pp. 6 - 6
BackgroundTwo interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease,... 
CLCN5 | SHROOM4 | Dent disease | RETARDATION | KIAA1202 | GENETICS | GENETICS & HEREDITY | Usage | Karyotyping | Genetic aspects | Dent's disease | Microcephaly | Stature, Short | Mental retardation | Phenotypes | Disease | Intellectual disabilities | Genes | Genomes | Patients | Proteins | Genotype & phenotype | Microencephaly | Genetics | Mutation | Bioinformatics | Age
Journal Article
Kidney International, ISSN 0085-2538, 05/2014, Volume 85, Issue 5, pp. 1169 - 1178
Journal Article
Kidney International, ISSN 0085-2538, 07/2013, Volume 84, Issue 1, pp. 206 - 213
Journal Article
Therapeutic drug monitoring, ISSN 0163-4356, 08/2019, Volume 41, Issue 6, pp. 696 - 702
Mycophenolate mofetil (MMF) plays an increasingly important role in the treatment of children with nephrotic syndrome, especially in steroid sparing protocols.... 
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2009, Volume 361, Issue 17, pp. 1639 - 1650
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2017, Volume 12, Issue 8, p. e0180926
Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to... 
NEPHROTIC SYNDROME | STEROID-RESISTANT | EXPRESSION | MULTIDISCIPLINARY SCIENCES | Immunologic Deficiency Syndromes - pathology | Osteochondrodysplasias - pathology | Genetic Testing | Kidney - pathology | Humans | Child, Preschool | Infant | Nephrotic Syndrome - genetics | Arteriosclerosis - genetics | Pulmonary Embolism - pathology | Young Adult | Osteochondrodysplasias - genetics | Adult | Immunologic Deficiency Syndromes - diagnosis | Child | DNA Helicases - genetics | Nephrotic Syndrome - diagnosis | Pulmonary Embolism - genetics | Nephrotic Syndrome - pathology | Genotype | Osteochondrodysplasias - diagnosis | Pulmonary Embolism - diagnosis | Phenotype | Arteriosclerosis - diagnosis | Adolescent | Immunologic Deficiency Syndromes - genetics | Mutation | Arteriosclerosis - pathology | Cohort Studies | Care and treatment | Dysplasia | Chronic kidney failure | Mortality | Analysis | Genetic aspects | Diagnosis | Risk factors | End-stage renal disease | Pediatrics | Nephrology | Hemodialysis | Bone surgery | Subgroups | Gene sequencing | Proteins | Consortia | Missense mutation | Ischemia | Genetics | Children | Age | Deoxyribonucleic acid--DNA | Hypertension | Congenital diseases | Complications | Septicemia | Nephrotic syndrome | Gene expression | Patients | Children & youth | Medicine | Hospitals | Nephropathy | Biopsy | University faculty | Kidney diseases | Binding sites | Proteinuria | Kidney transplantation | Deoxyribonucleic acid | DNA
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 9/2013, Volume 36, Issue 5, pp. 747 - 756
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 3/2017, Volume 32, Issue 3, pp. 511 - 519
Journal Article