Advances in Genomics and Genetics

Titel Veröffentlichungsdatum Sprache Zitate
Cystic fibrosis gene mutations: evaluation and assessment of disease severity2014/10/01English
Human RECQ helicases: roles in cancer, aging, and inherited disease2014/12/01English
Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader–Willi and Alström syndromes2015/01/01English
Multicentric osteolysis with nodulosis, arthritis, and cardiac defect syndrome: loss of MMP2 leads to increased apoptosis with alteration of apoptotic regulators and caspases and embryonic lethality2014/11/01English
Predictive value of genomics in the screening of type 2 diabetes: limitations and current status2014/05/01English
Obesity – Are we continuing to play the genetic “blame game”?2016/11/01English
Emerging perspectives on hereditary glomerulopathies in canines2015/04/01English
Insights into the molecular genetics of Kabuki syndrome2015/02/01English
Frequency of frontotemporal dementia gene variants in <em>C9ORF72</em>, <em>MAPT</em>, and <em>GRN</em> in academic versus commercial laboratory cohorts2018/10/01English
A new beginning2011/03/01English
Exome sequencing: what clinicians need to know2014/03/01English
Two different BRCA2 mutations found in a multigenerational family with a history of breast, prostate, and lung cancers2014/06/01English
Role of PTPN22 and VDR gene polymorphisms in susceptibility to rheumatoid arthritis: a study from central India2014/06/01English
Developments in the treatment of transfusion-dependent anemia in patients with myelodysplastic syndromes: epidemiology, etiology, genetics, and targeted therapies2014/07/01English
Exonic deletion of OPHN1 resulting in seizures, intellectual disability, and brain malformations2014/07/01English
On the genetics of sleep disorders: genome-wide association studies and beyond2015/08/01English
Ethical challenges and innovations in the dissemination of genomic data: the experience of the PERSPECTIVE project2015/08/01English
COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 32015/08/01English
Mutational analysis of APOL1 in patients with Fechtner and Epstein syndromes: no evidence of a digenic etiology in MYH9-related disorders with renal disease2012/07/01English
Insights into the genetic basis of systemic sclerosis: immunity in human disease and in mouse models2014/09/01English
Consequences of ongoing retrotransposition in mammalian genomes2014/09/01English
K-type human endogenous retroviral elements in human melanoma2014/10/01English
The hereditary basis of bicuspid aortic valve disease: a role for screening?2014/12/01English
Genome-wide association studies in asthma: progress and pitfalls2015/01/01English
Double-strand break repair mechanisms in Escherichia coli: recent insights2015/01/01English
Polycystic kidney disease gene in the Lewis polycystic kidney rat is mapped to chromosome 10q21&ndash;q262012/08/01English
Long noncoding RNAs: from identification to functions and mechanisms2015/07/01English
Recent insights into the regulation of X-chromosome inactivation2015/05/01English
A preliminary case study of androgen receptor gene polymorphism association with impulsivity in women with alcoholism2014/03/01English
Recent advances in computational epigenetics2017/12/01English