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                             18 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project Green, Robert C.

110 7 p. 1034-1045
artikel
2 Approaches to studying the impact of 22q11.2 copy number variants Bassett, Anne S.

110 7 p. 1216-1218
artikel
3 Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility Talwar, James V.

110 7 p. 1138-1161
artikel
4 CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis Kume, Kodai

110 7 p. 1086-1097
artikel
5 Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population Bundalian, Linnaeus

110 7 p. 1110-1122
artikel
6 Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry Darst, Burcu F.

110 7 p. 1200-1206
artikel
7 Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias Cunha, Paulina

110 7 p. 1098-1109
artikel
8 Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B Loftus, Stacie K.

110 7 p. 1123-1137
artikel
9 High-throughput identification of regulatory elements and functional assays to uncover susceptibility genes for nasopharyngeal carcinoma Wang, Tong-Min

110 7 p. 1162-1176
artikel
10 Implications of family history and polygenic risk scores for causation Li, Shuai

110 7 p. 1221-1223
artikel
11 Multi-response Mendelian randomization: Identification of shared and distinct exposures for multimorbidity and multiple related disease outcomes Zuber, Verena

110 7 p. 1177-1199
artikel
12 Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans Guo, Long

110 7 p. 1068-1085
artikel
13 Polygenic risk prediction: why and when out-of-sample prediction R2 can exceed SNP-based heritability Wang, Xiaotong

110 7 p. 1207-1215
artikel
14 Response to Bassett et al. Zamariolli, Malú

110 7 p. 1219-1220
artikel
15 Response to Li and Hopper Mars, Nina

110 7 p. 1224-1225
artikel
16 Studying the impact of translational genomic research: Lessons from eMERGE Clayton, Ellen Wright

110 7 p. 1021-1033
artikel
17 This month in The Journal Spencer, Kylee L.

110 7 p. 1019-1020
artikel
18 Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup Walker, Logan C.

110 7 p. 1046-1067
artikel
                             18 gevonden resultaten
 
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