نتائج البحث

Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes.

• Authors : Lanzaro, Francesca¹ (AUTHOR); De Biasio, Delia¹ (AUTHOR); Cesaro, Francesco Giustino¹ (AUTHOR)

• Source: Journal of Clinical Medicine. Sep2024, Vol. 13 Issue 18, p5510. 21p.

تفاصيل العنوان

Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

• Authors : Josephs, Katherine S; Roberts, Angharad M; Theotokis, Pantazis ...

Subjects: Databases; Genetic; Genetic Testing

تفاصيل العنوان

Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma

• Authors : Corradi, Chiara; Lencioni, Giulia; Gentiluomo, Manuel ...

Subjects: DNA Methylation; Genetic Variation; Genetics

تفاصيل العنوان

The EAHAD blood coagulation factor VII variant database

• Authors : Giansily?Blaizot, Muriel; Rallapalli, Pavithra M.; Perkins, Stephen J.

Subjects: blood coagulation disorders; factor VII deficiency; genetic variation

تفاصيل العنوان

Association of chromosome 9p21 with subsequent coronary heart disease events: A GENIUS-CHD study of individual participant data

• Authors : CARDIOGRAMplusC4D Consortium;

Subjects: Chromosome; Genetic variation; Myocardial infarction

تفاصيل العنوان

Association of Chromosome 9p21 with Subsequent Coronary Heart Disease events:A GENIUS-CHD study of individual participant data

• Authors : Patel, Riyaz S.; Schmidt, Amand F.; Tragante, Vinicius

Subjects: Chromosome; Genetic variation; Myocardial infarction

• Source: CARDIoGRAMplusC4D Consortium , Patel , R S , Schmidt , A F , Tragante , V , McCubrey , R O , Holmes , M V , Howe , L J , Direk , K , Åkerblom , A , Leander , K , Virani , S S , Kaminski , K A ,

تفاصيل العنوان

Genomics of Clinal Local Adaptation in Pinus sylvestris Under Continuous Environmental and Spatial Genetic Setting

• Authors : Zhen Li; Juan J. Acosta; Jaana Vuosku

Subjects: 0106 biological sciences; SELECTION; LINKAGE DISEQUILIBRIUM

• Source: G3: Genes, Genomes, Genetics, Vol 10, Iss 8, Pp 2683-2696 (2020)G3-GENES GENOMES GENETICSG3: Genes|Genomes|

تفاصيل العنوان

A genetic variant of the NAMPT gene rs4730153 as a risk factor for the metabolic syndrome in younger age: a single-centre pilot study in Yogyakarta, Indonesia

• Authors : Pramudji Hastuti; Rosdiana Mus; Ahmad Hamim Sadewa

Subjects: medicine.medical_specialty; education.field_of_study; Medicine (General)

• Source: Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-7 (2021)

تفاصيل العنوان

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

• Authors : Tachmazidou, Ioanna; Süveges, Dániel; Min, Josine L. ...

Subjects: anthropometry; DXA trait; genetic association study

تفاصيل العنوان

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

• Authors : Adam C. Gunning; Shlomit Ezer; Johannes A. Mayr

Subjects: Male; Autosomal recessive; AAA+ protein

• Source: Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)Genome Med. 13:55 (2021)Genome Medicine

تفاصيل العنوان