Du søkte etter "Jouberts syndrom" | nephronophthisis og fikk 21 treff. Viser side 1 av 3.
-
Jouberts syndrom og relaterte sykdommer
Jouberts syndrom (JS) er en sjelden, medfødt utviklingsforstyrrelse som først og fremst rammer det sentrale nervesystemet. JS oppfattes i dag som å tilhøre en gruppe sjeldne tilstander såkalte ciliopatier der det er en forandring i cellens cilier. Den sees…
-
Genetics and pathogenesis of nephronophthisis
… jeune jeune's jeunes jeunes' jouberin joubert joubert's jouberts jouberts' juvenile juveniles kid's kidneys kids kids'… single-strand situs slavery sonic spindle strand subunit syndrome-families t(2;22) tapetoretinal tensin thickened tin…
-
Clinical manifestations, diagnosis, and treatment of nephronophthisis
… jeune jeune's jeunes jeunes' jouberin joubert joubert's jouberts jouberts' juvenile juveniles kid's kidneys kids kids'… sediment senior shaped shortening situs skeletal skeleton syndromes syndromic t15;19 tapetoretinal teen teenage teenager…
-
Sjeldne diagnoser A-Å
… søkemotor. ABCDEFGHIJKLMNOPQRSTUVWXYZÆØÅ 22q11 syndrom 22q13 syndrom 47 XXX 47 XXY syndrom 47 XYY syndrom 48… syndrom Svært sjeldne kromosomavvik med utviklingshemning Syndromal immunsvikt Syndromale kraniosynostoser Syndromatisk…
-
Simple and complex renal cysts in adults
… multilocular multiphasic mural needle nephrectomie nephrectomies nephrectomy nephrocalcinosi nephrocalcinosis nephronophthisi nephronophthisis nephronsparing nmr nphp parenchyma pckd percutaneous pkd pleuro-parenchyma polycystic post-percutaneous…
-
Caroli disease
… involved irregular itbfs itbs jampursodiol joubert joubert's jouberts jouberts' juvenile juveniles k-concentrations kanakion… microtubule microtubule-associated mks mrcp nephronophthisi nephronophthisis nephronsparing neutrophilia nonselective nphp…
-
General principles of renal transplantation in children
… naprtcs native needing negatively nephrectomie nephrectomies nephrectomy nephritic nephritis nephroblastoma nephronophthisi nephronophthisis nephronsparing nephropathies nephropathy nephrosi nephrosis nephrotic nephroureterectomies nephroureterectomy…
-
Autosomal dominant polycystic kidney disease (ADPKD) in children
… modifier mosaicism mosaicisms mosaics mtor mvps neonatal neonatally neonate neonates neonatology nephron nephronophthisi nephronophthisis nephronsparing nephropathies nephropathy new-born new-borns newborn newborns newborns' nonrenal normotensive…
-
Preconception and prenatal carrier screening for genetic disease more common in the Ashkenazi Jewish population and others with a family history of these disorders
… ivs jewish jews jgd jgds jitteriness jittery joubert joubert's jouberts jouberts' ketones ketonuria kugelberg-welander… spongy spots storage sur1 sweet sweet's sweeter sweets sweets' syndrome-families syndrome-family syrup syrup-urine syrup-urines…
-
Genetics of autosomal dominant polycystic kidney disease and mechanisms of cyst growth
… na-pca nakatpase neovascular neovascularization neovascularizations neovascularize neovascularized nephron nephronophthisi nephronophthisis nephronsparing nephropathies nephropathy next-generation nonselective nonsense nphp nphp1 nphp2 nphp3 nphp4…