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perinnölliset taudit
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http://www.yso.fi/onto/yso/p19997
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perinnölliset taudit
Works about perinnölliset taudit
Antiikin lääketieteen perintö
Ataksiaoireyhtymät : tietoa etenevistä ataksiasairauksista
Ataxisyndrom : information om progredierande ataxisjukdomar
Breeding against hip and elbow dysplasia in dogs
Calcium signaling in epithelium : special focus on Hailey-Hailey and Darier diseases, neurofibromatosis I and transitional cell carcinoma
Canine models of human vision disorders :
Characteristics of subjects with Brugada syndrome type electrocardiogram
Childhood-onset mitochondrial diseases : with emphasis on molecular diagnostics of neurological disorders
CLN5 - from mutation to defective protein and clinical phenotype
Complement factor H dysfunction in atypical hemolytic uremic syndrome
Dissecting genetic susceptibility to gluten sensitivity : HLA-linked risk factors in coeliac disease and dermatitis herpetiformis
Ei yksin geeneistä : matkaopas rodun, normaaliuden ja sikiämisen genomiikkaan
Elämän tiede : tutkimus lääketieteellisestä teknologiasta, vanhemmuudesta ja perimän hallinnasta
Ethics in diagnostic genetic testing
Familial hypokalaemic periodic paralysis in Finland : with special reference to the potassium exercise test
Frax-oireyhtymä
Frax-oireyhtymä pojalla ja miehellä : onko nuorella frax-miehellä tänä päivänä paremmat taidot ja valmiudet kuin vanhemmalla frax-miehellä oli nuoruudessaan?
Functional significance of minor MLH1 germline alterations found in colon cancer patients
Geenikartoitusopas
Geeniseulontatyöryhmän muistio
Gene therapy in the treatment of familial hypercholesterolemia : evaluation and development of viral vectors and gene transfer techniques
Geneettiset kuuloviat ja vaihtoehtoiset kommunikaatiotavat
Genetic and clinical features of familial Meniere's disease in Northern Ostrobothnia and Kainuu
Genetic and epigenetic mechanisms of tumor predisposition in hereditary non-polyposis colorectal carcinoma and sporadic cancers
Genetic and functional studies of severe ventricular arrhythmias
Genetic and immunological risk factors and carotid artery atherosclerosis
Genetic background of spontaneous preterm birth and lung diseases in preterm infants : studies of potential susceptibility genes and polymorphisms
Genetic backround and phenotype of autosomal dominant polycystic kidney disease in eastern Finland
Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Genetic defects of calcium and potassium signaling in inherited ventricular arrhythmias
Genetic epidemiology of hereditary prostate cancer in Finland
Genetic selection in human mitochondria
Genetic studies on susceptibility genes in osteoarthritis
Genetics of inherited small vessel diseases : in search of a novel small vessel disease and mofifiers of the clinical course of CADASIL
Genetics of monosymptomatic hereditary optic neuropathies
Genomic and expression analysis of the congenital chloride diarrhea gene
Guide till Fabrys sjukdom :
Haasteena harvinaiset harmit : Väestöliiton perinnöllisyysklinikka 20 vuotta
Hereditary hemochromatosis : with a special emphasis on HFE genotyping
Hereditary prostate cancer in Finland : from genetic linkage to susceptibility genes
Hereditär spastisk parapares : information om syndromet
HMSN : hereditäärinen motosensorinen neuropatia
HMSN ja HNPP
Human pathogenic mutations in protein domains
Human pluripotent stem cells and CRISPR-Cas9 genome editing to model diabetes
Identification of novel mutations and molecular pathways for canine neurodegeneration and chondrodysplasia
Identification of the Meckel syndrome gene (MKS1) exposes a novel ciliopathy
Idiopathic epilepsy in Finnish Spitz dogs : epidemiological, clinical and diagnostic aspects
Inherited developmental diseases related to reproductive failures in cattle
Kodin terveyskirjasto : Terve ruoansulatuselimistö
Lapsia valitessa : geenit, vammaisuus ja suunnittelu
Large-scale data analysis to identify novel disease phenotypes and genes
Lastentautien tutkimussäätiön Apteekkari Ulla Hjeltin rahasto 1994-2000
Late-onset spinal motor neuronopathy : a new neuromuscular disease
Long-term outcome and extraintestinal manifestations in congenital chloride diarrhea
Lääketieteellinen genetiikka
Mihin geenitietoa käytetään?
Mitochondrial disease in southwestern Finland : population-based molecular genetic and clinical studies
Molecular basis of hereditary leiomyomatosis and renal cell cancer (HLRCC)
Molecular characterization of mitochondrial ataxias : with emphasis on MIRAS and IOSCA
Molecular classification of colorectal cancer
Molecular diagnostics of rare inherited syndromes with a view on diagnostic test development
Molecular genetics of acute intermittent porphyria in Finland
Molecular genetics of autosomal recessive congenital ichthyosis
Molecular genetics of lactase persistence
Molecular genetics of psoriasis
Molecular genetics of RECQL4 syndromes
Molecular genetics of the GRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis and early death)
Molecular genetics of variegate porphyria in Finland
Molecular genetics of X-chromosomal juvenile retinoschisis
Molecular genetics of X-linked cone-rod dystrophy and Åland Island eye disease
Molecular mechanisms of cancer predisposition in HNPCC/Lynch syndrome
Molecular pathogenesis in hereditary non-polyposis colorectal cancer (HNPCC) syndrome
Molecular pathogenesis of Salla disease
Molecular pathology of hereditary colon cancer
Monogenic model for autoimmune diseases : molecular basis of autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy (APECED)
Mustat pallot : kertomuksia lapsen sairaudesta
Neurodevelopmental insights into rare diseases : focus on Col18a1 and Cln5 knock-out mouse models
Neurofibromatoosi tyyppi 1 (NF1)
Neurofibromatosis type 1 : from gene to population and cancer
Neuronal ceroid lipofuscinosis CLN8 : from gene to protein
New hereditary ataxia-disorders in Finland
Novel genetic defects in titinopathies and other muscular dystrophies
Oliverilla on CATCH-22 oireyhtymä : elämänvaiheita lapsuudesta nuoruuteen ja sisarusten kokemuksia
On the superior power of likelihood-based linkage disequilibrium mapping in large multiplex families compared to population based case-control designs
Opas Fabryn taudista : tietoa ja kokemuksia
Pathogenetic features of proteinuria studies on congenital nephrotic syndrome of the Finnish type
Perinnöllinen etenevä alaraajahalvaus
Perinnölliset sairaudet ja perinnöllisyysneuvonta : luentomoniste : terveydenhuollon, sairaanhoidon ja sosiaalihuollon opiskelijoille
Perinnölliset silmänpohjarappeumat -seminaari lääkäreille
Perinnöllisyyslääketiede
Polycystic kidney disease in children : differential diagnosis between the dominantly and recessively inherited forms
Positional cloning of Mulibrey Nanism gene (MUL)
Predictive genetic testing and counselling for hereditary non-polyposis colorectal cancer (HNPCC) : a prospective follow-up study of acceptance and psychosocial consequences
Predisposing and modifying genes in hereditary colorectal cancer syndromes
Radiographic screening for hereditary skeletal disorders in dogs
Retiniitikon opas : tietoa perinnöllisistä verkkokalvorappeumista
RHH : rusto-hiushypoplasia -kasvuhäiriö
Roles of the nebulin and β-tropomyosin genes in nemaline myopathy
Rottweilereiden lonkka- ja kyynärniveldysplasian perinnölliset tunnusluvut
Salla disease - rare but diverse : a clinical follow-up study of a Finnish patient sample
Samfundet Folkhälsans Genetiska institut 50 år
Sata harvinaista : tietoa pienistä vammaisryhmistä
Simulation techniques for disease gene localization in isolated populations
Sinu geenid, minu geenid : geneetikaalane info noorpaaridele
Sinun geenit ja minun : perinnöllisyystietoa perhettä suunnitteleville
Studies on the molecular pathogenesis of psoriasis
Study of hypertrophic cardiomyopathy using human induced pluripotent stem cell derived cardiomyocytes
Suku ja tieto : 2, Sukututkimuspäivien esitelmiä 1981-1982
Suomi-neidon geenit : tautiperinnön takana juurillemme johtamassa
Tavoitteena terveys
The age of the mutations in the Finnish disease heritage : a genealogical and linkage disequilibrium study
Tieteen maailma : [19], Maapallon tulevaisuus
Towards genetic testing in antenatal care
Tuberoosiskleroosi
Tumour necrosis factor receptor-associated periodic syndrome (TRAPS) : identification of novel TNFRSF1A mutations and intracellular signalling defects
Two genes behind PLOSL : molecular and pathological characteristics of the disease
Utilizing canine health programmes for breeding in Finland
Utilizing health programmes for controlling canine genetic diseases in Finland
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