perinnölliset taudit

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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