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                             19 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder Snijders Blok, Lot

4 1 p.
artikel
2 A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay Young, Cameron

4 1 p.
artikel
3 Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium Fernández-Rhodes, Lindsay

4 1 p.
artikel
4 A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles Carlson, Jenna C.

4 1 p.
artikel
5 Awareness and utilization of genetic testing among Hispanic and Latino adults living in the US: The Hispanic Community Health Study/Study of Latinos Christensen, Kurt D.

4 1 p.
artikel
6 CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity Formicola, Daniela

4 1 p.
artikel
7 Genetic regulation of circular RNA expression in human aortic smooth muscle cells and vascular traits Aherrahrou, Redouane

4 1 p.
artikel
8 Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing Fang, Li

4 1 p.
artikel
9 High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification Mastromatteo, Scott

4 1 p.
artikel
10 IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders Aitken, Stuart

4 1 p.
artikel
11 Inverted genomic regions between reference genome builds in humans impact imputation accuracy and decrease the power of association testing Sheng, Xin

4 1 p.
artikel
12 Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome Breen, Michael S.

4 1 p.
artikel
13 Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations Zieger, Hanna K.

4 1 p.
artikel
14 Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder Kainer, David

4 1 p.
artikel
15 Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases Papadimitriou, Sofia

4 1 p.
artikel
16 Unexplained mismatch repair deficiency: Case closed Eikenboom, Ellis L.

4 1 p.
artikel
17 Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology Sobering, Andrew K.

4 1 p.
artikel
18 Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants Young, Kristin L.

4 1 p.
artikel
19 Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number Pillalamarri, Vamsee

4 1 p.
artikel
                             19 gevonden resultaten
 
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