Search results for "human genetic"

showing 10 items of 209 documents

Untersuchungen �ber das Verhalten proteingebundener Sulfhydrylverbindungen des Plasmas bei alternden und katarakt�sen Patienten

1962

Blood serumBiochemistryBlood chemistryChemistryDrug DiscoveryBlood plasmaMolecular MedicineGeneral MedicineMolecular medicineBlood proteinsGenetics (clinical)Human geneticsCysteineKlinische Wochenschrift
researchProduct

Schizokotylie und Pleiokotylie bei Delphinium ajacis

1955

BotanyGeneticsGeneral MedicineBiologyMolecular BiologyHuman geneticsZeitschrift f�r Induktive Abstammungs- und Vererbungslehre
researchProduct

International network of cancer genome projects

2010

International audience; The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumors from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of over 25,000 cancer genomes at the genomic, epigenomic, and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically-relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.

Cancer therapyCarcinogenesisGenetics MedicalInternational CooperationSystems biologyDNA Mutational AnalysiseducationGenomicsBiologyGenomeArticle03 medical and health sciences0302 clinical medicineBreast cancerOncogènesiNeoplasmsDatabases GeneticmedicineCancer genomicsHumansCàncerMolecular BiologyCancer030304 developmental biologyGenetics0303 health sciencesMultidisciplinaryGenome HumanCancer[SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and GastroenterologyGenomicsDNA Methylationmedicine.diseaseIntellectual PropertyHuman genetics3. Good healthCancer Genome Project030220 oncology & carcinogenesisMutationcancer genome projectsHuman genomeGenes Neoplasm
researchProduct

Kathepsinaktivit�t im menschlichen Endometrium

1955

Die nach der Methode vonAnson bestimmte Kathepsinaktivitat im menschlichen Endometrium wahrend der verschiedenen Cyclusphasen zeigte keine signifikanten Unterschiede.

CathepsinProteasesDrug DiscoveryMolecular MedicineGeneral MedicineBiologyHuman endometriumMolecular biologyMolecular medicineGenetics (clinical)Human geneticsKlinische Wochenschrift
researchProduct

�ber die Beeinflussung der Desoxyribonucleotidase durch Xanthopterin

1950

ChemistryDrug DiscoveryMolecular MedicineGeneral MedicineMolecular medicineMolecular biologyGenetics (clinical)Human geneticsKlinische Wochenschrift
researchProduct

�ber biochemische Wirkungen von Miracil D

1950

ChemistryDrug DiscoveryMolecular MedicineGeneral MedicinePharmacologyMolecular medicineGenetics (clinical)Human geneticsKlinische Wochenschrift
researchProduct

Tetrahydrofuran als Extraktionsmittel zur Lipoidbestimmung in Blut und Serum

1949

ChemistryDrug DiscoveryMolecular MedicineGeneral MedicinePharmacologyMolecular medicineGenetics (clinical)Human geneticsKlinische Wochenschrift
researchProduct

SNV-InDel working group: Results and lessons learned from the analysis of 22,035 exomes and genomes from 6 European reference networks

2023

Diagnostic Odyssey[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics
researchProduct

Untersuchungen �ber die Verteilung der Hp-, Gc- und Gm-Gruppen in Pakistan

1966

Evolutionary biologyGeneticsDistribution (pharmacology)BiologyGenetics (clinical)Human geneticsHuman Genetics
researchProduct

Molecular and patho-physiological basis of syndromes with developmental anomalies and intellectual disability

2013

Intellectual disability (ID) corresponds to abnormal intellectual performances and adaptive functions, beginning in childhood. It is estimated that 2-3% of individuals develop a ID, which represents a significant medical challenge since people with ID are frequently in situations of social dependence. Overall, a critical involvement of genetic factors in this disease is suspected. To date, several hundreds of genes are known to be responsible for ID. The ID is particularly characterized by extreme clinical and genetic heterogeneity, that made it resistant to conventional genetic studies. However, it is classicaly separated between syndromic ID, which may be clinically recognizable due to as…

Exome sequencingMendelian disorders[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyShprintzen-Goldberg syndromeIntellectual disabilitySyndromes microdélétionnels[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human geneticsAnomalies du développementDéficience intellectuelleSéquençage d’exomeMicrodeletionnal syndromesSyndrome de Shprintzen-Goldberg[SDV.BDD] Life Sciences [q-bio]/Development BiologyMultiple congenital anomalies[SDV.BBM] Life Sciences [q-bio]/Biochemistry Molecular BiologyMaladies mendéliennes
researchProduct