Du søkte etter "Jouberts syndrom" | nephronophthisis og fikk 21 treff. Viser side 1 av 3.
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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…
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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…
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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'… scoliosi scoliosis sediment senior situs skeletal skeleton syndromes syndromic t15;19 tapetoretinal teen teenage teenager…
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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…
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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…
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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…
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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…
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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…
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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 synthroid synthyroxine syrup…
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Clinical manifestations and causes of nephrogenic diabetes insipidus
… mouse mutant mutation mutations mylanlosartan ndi nephrocalcinosi nephrocalcinosis nephrogenic nephron nephronophthisi nephronophthisis nephronsparing neurologically nkcc2 nocdurna noctiva nocturia novoofloxacin nphp nutraplus octostim ocuflox…