Pages that link to "Q47502596"
Jump to navigation
Jump to search
The following pages link to Adamo Pio d'Adamo (Q47502596):
Displaying 50 items.
- Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. (Q24533166) (← links)
- Genetic determinants for methotrexate response in juvenile idiopathic arthritis (Q27026473) (← links)
- Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization (Q28654771) (← links)
- Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (Q30277642) (← links)
- Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). (Q30352801) (← links)
- A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. (Q30355401) (← links)
- MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions (Q33283739) (← links)
- 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function (Q33612113) (← links)
- Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche (Q34289136) (← links)
- Genetic landscape of populations along the Silk Road: admixture and migration patterns. (Q34712618) (← links)
- Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations. (Q34899076) (← links)
- The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis (Q34989092) (← links)
- Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations (Q34998326) (← links)
- Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss (Q35223619) (← links)
- Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure (Q36241862) (← links)
- Brain-derived neurotrophic factor serum levels in genetically isolated populations: gender-specific association with anxiety disorder subtypes but not with anxiety levels or Val66Met polymorphism. (Q36244336) (← links)
- Genome-wide meta-analysis of common variant differences between men and women (Q36317729) (← links)
- Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways (Q36485172) (← links)
- Seventy-five genetic loci influencing the human red blood cell (Q36758500) (← links)
- Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant (Q36846924) (← links)
- Genetic variation in taste sensitivity to 6-n-propylthiouracil and its relationship to taste perception and food selection. (Q37580959) (← links)
- DNA mismatch repair gene MSH6 implicated in determining age at natural menopause (Q37685729) (← links)
- Exome analysis of HIV patients submitted to dendritic cells therapeutic vaccine reveals an association of CNOT1 gene with response to the treatment. (Q38309700) (← links)
- A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia (Q38857373) (← links)
- Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways (Q39024652) (← links)
- Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol. (Q41068390) (← links)
- Opioid Resistance Associated with CYP3A4 Hyperactivity and COMT Polymorphism in an Oncological Patient (Q43365844) (← links)
- Detection of epidermal thickening in GJB2 carriers with epidermal US. (Q44888693) (← links)
- Age-related hearing loss in four Italian genetic isolates: an epidemiological study. (Q44919790) (← links)
- Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion. (Q46696039) (← links)
- Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families (Q47338672) (← links)
- Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability (Q48533762) (← links)
- A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family (Q50484466) (← links)
- Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis (Q50505903) (← links)
- A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. (Q50784641) (← links)
- Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family (Q51714031) (← links)
- Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. (Q51932596) (← links)
- Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family (Q51951194) (← links)
- Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population (Q51951965) (← links)
- Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. (Q54488239) (← links)
- Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. (Q54541542) (← links)
- Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability (Q57720097) (← links)
- Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP? (Q57747617) (← links)
- Juvenile stroke in combined syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis (Q57747652) (← links)
- Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature (Q57747665) (← links)
- Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological (Q57747669) (← links)
- Variation of hemoglobin levels in normal Italian populations from genetic isolates (Q57747726) (← links)
- Behavioral Disorder, Dementia, Ataxia, and Rigidity in a Large Family With TATA Box-Binding Protein Mutation (Q57747749) (← links)
- Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population (Q57747773) (← links)
- Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family (Q57747780) (← links)