Helsebiblioteket.no

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…
- Frambu
- Oppslagsverk
- Retningslinjer
- Norsk
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…
- u
- p
- t
- o
- d
- a
- t
- e
- o
- p
- p
- s
- l
- a
- g
- s
- v
- e
- r
- k
- e
- n
- g
- e
- l
- s
- k
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…
- u
- p
- t
- o
- d
- a
- t
- e
- o
- p
- p
- s
- l
- a
- g
- s
- v
- e
- r
- k
- e
- n
- g
- e
- l
- s
- k
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…
- Helsebiblioteket
- Annet
- Norsk
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…
- u
- p
- t
- o
- d
- a
- t
- e
- o
- p
- p
- s
- l
- a
- g
- s
- v
- e
- r
- k
- e
- n
- g
- e
- l
- s
- k
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…
- u
- p
- t
- o
- d
- a
- t
- e
- o
- p
- p
- s
- l
- a
- g
- s
- v
- e
- r
- k
- e
- n
- g
- e
- l
- s
- k
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…
- u
- p
- t
- o
- d
- a
- t
- e
- o
- p
- p
- s
- l
- a
- g
- s
- v
- e
- r
- k
- e
- n
- g
- e
- l
- s
- k
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…
- u
- p
- t
- o
- d
- a
- t
- e
- o
- p
- p
- s
- l
- a
- g
- s
- v
- e
- r
- k
- e
- n
- g
- e
- l
- s
- k
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…
- u
- p
- t
- o
- d
- a
- t
- e
- o
- p
- p
- s
- l
- a
- g
- s
- v
- e
- r
- k
- e
- n
- g
- e
- l
- s
- k
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…
- u
- p
- t
- o
- d
- a
- t
- e
- o
- p
- p
- s
- l
- a
- g
- s
- v
- e
- r
- k
- e
- n
- g
- e
- l
- s
- k

Søk i alle kilder

Kilde

Informasjonstype

Language

Relaterte søk

Jouberts syndrom og relaterte sykdommer

Genetics and pathogenesis of nephronophthisis

Clinical manifestations, diagnosis, and treatment of nephronophthisis

Sjeldne diagnoser A-Å

Simple and complex renal cysts in adults

Caroli disease

General principles of renal transplantation in children

Autosomal dominant polycystic kidney disease (ADPKD) in children

Preconception and prenatal carrier screening for genetic disease more common in the Ashkenazi Jewish population and others with a family history of these disorders

Genetics of autosomal dominant polycystic kidney disease and mechanisms of cyst growth

Om oss

Kontakt

Følg oss

Nyhetsbrev