Du søkte etter "Jouberts syndrom" | nephronophthisis og fikk 23 treff. Viser side 1 av 3.
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Genetics and pathogenesis of nephronophthisis
… jeune jeune's jeunes jeunes' jouberin joubert joubert's jouberts jouberts' juvenile juveniles kid's kidneydes kidneys… sensing shh signaling situs slavery sonic spindle 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 kidneydes kidneys… scoliosis sediment senior shaped situs skeletal skeleton syndromes syndromic t15;19 tapetoretinal teen teenage teenager…
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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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Preconception and prenatal carrier screening for genetic disease in the Ashkenazi Jewish population
… 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…
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Autosomal recessive polycystic kidney disease in children
… intramural jeune jeune's jeunes jeunes' joubert joubert's jouberts jouberts' juvenile juveniles kaptopril keralac kid's… singleuse sparethe-nephron spleen spleens splenic sterilyte syndrome-families syndromic taroenalapril tevacaptopril…
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Renal cystic diseases in children
… isosthenuria jeune jeune's jeunes jeunes' joubert joubert's jouberts jouberts' juvenile juveniles kid's kidneydes kidneys… somatomedin somatomedins spatial sponge syndacty syndactyly syndromes t(10;11) t(11;14) t(1;19) t(2;5) testicles thirst…
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Prenatal sonographic diagnosis of cystic renal disease
… involution iris jeune jeune's jeunes jeunes' joubert joubert's jouberts jouberts' karyotype karyotype-enhanced karyotyped… sponge stippling subcapsular subcortical syndacty syndactyly syndromic ten teratoma teratomas the-nephron transcript…
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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 pain-hematuria parenchyma pckd percutaneous pkd pleuro-parenchyma polycystic…
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Retinitis pigmentosa: Clinical presentation and diagnosis
… near-sightedness nearsighted nearsightedness nephronophthisi nephronophthisis nephronsparing neuroretiniti neuroretinitis… splicing stimulus subacute subcapsular symptom symptoms syndromic syphilis tapetoretinal temporally tevachloroquine…
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Caroli disease
… involved irregular itbfs itbs jampursodiol joubert joubert's jouberts jouberts' juvenile juveniles kanakion kid's kidneydes… microtubule microtubule-associated mks mrcp nephronophthisi nephronophthisis nephronsparing neutrophilia nonselective nphp…