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- 2022
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Mark
A new missense variant in exon 7 of the ABO gene, c.662G>A, in a family with B
w phenotype.
(
- Contribution to journal › Article
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Mark
HLA analysis of immune checkpoint inhibitor-induced and idiopathic isolated ACTH deficiency
(
- Contribution to journal › Article
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Mark
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes
(
- Contribution to journal › Article
- 2021
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Mark
The trans-ancestral genomic architecture of glycemic traits
(
- Contribution to journal › Article
- 2019
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Mark
Genotyping and serotyping profiles showed weak Jka presentation for previously typed as Jknull donors
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- Contribution to journal › Article
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Mark
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
(
- Contribution to journal › Article
- 2018
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Mark
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings
(
- Contribution to journal › Article
- 2017
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Mark
A low-frequency inactivating AKT2 variant enriched in the finnish population is associated with fasting insulin levels and type 2 diabetes risk
(
- Contribution to journal › Article
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Mark
Polymorphisms in ADH1B and ALDH2 genes associated with the increased risk of gastric cancer in West Bengal, India
(
- Contribution to journal › Article
- 2016
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Mark
Association of Exome Sequences with Cardiovascular Traits among Blacks in the Jackson Heart Study
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- Contribution to journal › Article
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Mark
The genetic architecture of type 2 diabetes
(
- Contribution to journal › Article
- 2015
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Mark
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
(
- Contribution to journal › Article
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Mark
Exome sequencing of contralateral breast cancer identifies metastatic disease
(
- Contribution to journal › Article
- 2014
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Mark
The chromosome 9p21 variant interacts with vegetable and wine intake to influence the risk of cardiovascular disease : a population based cohort study
(
- Contribution to journal › Article
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Mark
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
- 2013
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Mark
Gene × physical activity interactions in obesity: combined analysis of 111,421 individuals of European ancestry. : combined analysis of 111,421 individuals of European ancestry
(
- Contribution to journal › Article
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Mark
Rare allelic forms of PRDM9 associated with childhood leukemogenesis
(
- Contribution to journal › Article
- 2012
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Mark
Characterization of mutations in barley fch2 encoding chlorophyllide a oxygenase
(
- Contribution to journal › Article
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Mark
Large-scale replication and heterogeneity in Parkinson disease genetic loci
(
- Contribution to journal › Article
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Mark
Empirical distributions of F(ST) from large-scale human polymorphism data
(
- Contribution to journal › Article
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Mark
On the roles and regulation of chondroitin sulfate and heparan sulfate in zebrafish pharyngeal cartilage morphogenesis
(
- Contribution to journal › Article
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Mark
ANKRD55 and DHCR7 are novel multiple sclerosis risk loci
(
- Contribution to journal › Article
- 2011
-
Mark
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
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Mark
Single nucleotide polymorphism (SNP) analysis demonstrates a significant association of tumour necrosis factor-alpha (TNFA) with primary immune thrombocytopenia among Caucasian adults
(
- Contribution to journal › Article
- 2010
-
Mark
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : implications for risk prediction
(
- Contribution to journal › Article
-
Mark
Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood
(
- Contribution to journal › Article
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Mark
In vitro tests of natural allelic variation of innate immune genes (avian β-defensins) reveal functional differences in microbial inhibition
(
- Contribution to journal › Article
- 2008
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Mark
Vra4 congenic rats with allelic differences in the class II transactivator gene display altered susceptibility to experimental autoimmune encephalomyelitis
(
- Contribution to journal › Article
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Mark
Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration
(
- Contribution to journal › Article
- 2007
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Mark
Analysis of ocular hypopigmentation in Rab38cht/cht mice
(
- Contribution to journal › Article
- 2006
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Mark
Large-scale population-based study shows no evidence of association between common polymorphism of the VDR gene and BMD in British women
(
- Contribution to journal › Article
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Mark
Invasive group A streptococcal infection with pancarditis caused by a new emm-type 12 allele of Streptococcus pyogenes
(
- Contribution to journal › Article
- 2005
-
Mark
Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone
(
- Contribution to journal › Article
- 2004
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Mark
Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women
(
- Contribution to journal › Article
- 2002
-
Mark
Risk of invasive cervical cancer associated with polymorphic HLA DR/DQ haplotypes.
(
- Contribution to journal › Article
-
Mark
Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families.
(
- Contribution to journal › Article
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Mark
Predictors of deterioration of lung function in cystic fibrosis.
(
- Contribution to journal › Article
-
Mark
Variants in the calpain-10 gene predispose to insulin resistance and elevated free fatty acid levels.
(
- Contribution to journal › Article
-
Mark
Single nucleotide polymorphism detection : allelic discrimination using TaqMan
(
- Contribution to journal › Article
- 2001
-
Mark
Association between COLIA1 Sp1 alleles and femoral neck geometry
(
- Contribution to journal › Article
-
Mark
Estrogen receptor alpha gene polymorphisms and bone mineral density : haplotype analysis in women from the United Kingdom
(
- Contribution to journal › Article
-
Mark
Effect of a COL1A1 Sp1 binding site polymorphism on arterial pulse wave velocity : an index of compliance
(
- Contribution to journal › Article
-
Mark
The NciI polymorphism in the cyclin D1 gene and sporadic primary hyperparathyroidism
(
- Contribution to journal › Article
-
Mark
Comparison of the prevalence of glutamic acid decarboxylase (GAD65) and gliadin antibodies (AGA) in a randomly selected adult estonian population
(
- Contribution to journal › Article
- 2000
-
Mark
Molecular analysis of FRIGIDA, a major determinant of natural variation in Arabidopsis flowering time
(
- Contribution to journal › Article
-
Mark
Hereditary cystatin C amyloid angiopathy
(
- Contribution to journal › Scientific review
- 1999
-
Mark
Factor V Q506 (resistance to activated protein C) and prognosis after acute coronary syndrome
(
- Contribution to journal › Article
-
Mark
The human BARX2 gene : genomic structure, chromosomal localization, and single nucleotide polymorphisms
(
- Contribution to journal › Article
-
Mark
The prothrombin gene G20210A mutation and the platelet glycoprotein IIIa polymorphism PlA2 in patients with central retinal vein occlusion
(
- Contribution to journal › Article
- 1998
-
Mark
Relation of alleles of the collagen type Ialpha1 gene to bone density and the risk of osteoporotic fractures in postmenopausal women
(
- Contribution to journal › Article
-
Mark
The A20210 allele of the prothrombin gene is frequently associated with the factor V Arg 506 to Gln mutation but not with protein S deficiency in thrombophilic families
(
- Contribution to journal › Letter
- 1997
-
Mark
The 20210 A allele of the prothrombin gene is a common risk factor among Swedish outpatients with verified deep venous thrombosis
(
- Contribution to journal › Debate/Note/Editorial
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Mark
A common thrombomodulin amino acid dimorphism is associated with myocardial infarction
(
- Contribution to journal › Article
-
Mark
Lead binding to delta-aminolevulinic acid dehydratase (ALAD) in human erythrocytes
(
- Contribution to journal › Article
- 1996
-
Mark
Allelic loss at chromosome 13q12-q13 is associated with poor prognosis in familial and sporadic breast cancer
(
- Contribution to journal › Article
- 1994
-
Mark
High frequency of allelic imbalance at the BRCA1 region on chromosome 17q in both familial and sporadic ductal breast carcinomas
(
- Contribution to journal › Article
- 1993
-
Mark
Reconstitution of wild-type p53 expression triggers apoptosis in a p53-negative v-myc retrovirus-induced T-cell lymphoma line
(
- Contribution to journal › Article