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                             19 results found
no title author magazine year volume issue page(s) type
1 A dyadic approach to the delineation of diagnostic entities in clinical genomics Biesecker, Leslie G.

108 1 p. 8-15
article
2 De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy Djordjevic, Djurdja

108 1 p. 186-193
article
3 Distinguishing pedigree relationships via multi-way identity by descent sharing and sex-specific genetic maps Qiao, Ying

108 1 p. 68-83
article
4 Failure to recombine is a common feature of human oogenesis Hassold, Terry

108 1 p. 16-24
article
5 Host genetic effects in pneumonia Chen, Hung-Hsin

108 1 p. 194-201
article
6 Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study Ortiz-Fernández, Lourdes

108 1 p. 84-99
article
7 Leveraging phenotypic variability to identify genetic interactions in human phenotypes Marderstein, Andrew R.

108 1 p. 49-67
article
8 Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk Jia, Xiaoyan

108 1 p. 163-175
article
9 Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy Fry, Andrew E.

108 1 p. 176-185
article
10 Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability Meili, Fabian

108 1 p. 148-162
article
11 PLEIO: a method to map and interpret pleiotropic loci with GWAS summary statistics Lee, Cue Hyunkyu

108 1 p. 36-48
article
12 Probabilistic colocalization of genetic variants from complex and molecular traits: promise and limitations Hukku, Abhay

108 1 p. 25-35
article
13 Rare and de novo coding variants in chromodomain genes in Chiari I malformation Sadler, Brooke

108 1 p. 100-114
article
14 Response to Jackson Micheletti, Steven J.

108 1 p. 209-210
article
15 SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling Lin, Yuh-Charn

108 1 p. 115-133
article
16 So many Nigerians: why is Nigeria overrepresented as the ancestral genetic homeland of Legacy African North Americans? Jackson, Fatimah L.C.

108 1 p. 202-208
article
17 The genomics workforce must become more diverse: a strategic imperative Bonham, Vence L.

108 1 p. 3-7
article
18 This month in The Journal Ratzel, Sarah

108 1 p. 1-2
article
19 UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism Li, Chunmei

108 1 p. 134-147
article
                             19 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands