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                             15 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 Rafehi, Haloom

110 1 p. 105-119
artikel
2 Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration Muffels, Irena J.J.

110 1 p. 146-160
artikel
3 De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders Wiel, Laurens

110 1 p. 92-104
artikel
4 Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes Lansdon, Lisa A.

110 1 p. 71-91
artikel
5 Genotype first: Clinical genomics research through a reverse phenotyping approach Wilczewski, Caralynn M.

110 1 p. 3-12
artikel
6 Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low? Mackey, David A.

110 1 p. 170-176
artikel
7 LDAK-GBAT: Fast and powerful gene-based association testing using summary statistics Berrandou, Takiy-Eddine

110 1 p. 23-29
artikel
8 Leveraging drug perturbation to reveal genetic regulators of hepatic gene expression in African Americans Zhong, Yizhen

110 1 p. 58-70
artikel
9 Low disease risk and penetrance in Leber hereditary optic neuropathy Watson, Eloise C.

110 1 p. 166-169
artikel
10 mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data Li, Ang

110 1 p. 30-43
artikel
11 Probabilistic integration of transcriptome-wide association studies and colocalization analysis identifies key molecular pathways of complex traits Okamoto, Jeffrey

110 1 p. 44-57
artikel
12 Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy Paul, Maimuna S.

110 1 p. 120-145
artikel
13 SDPRX: A statistical method for cross-population prediction of complex traits Zhou, Geyu

110 1 p. 13-22
artikel
14 Statistical phasing of 150,119 sequenced genomes in the UK Biobank Browning, Brian L.

110 1 p. 161-165
artikel
15 This month in The Journal Spencer, Kylee L.

110 1 p. 1-2
artikel
                             15 gevonden resultaten
 
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