Holman, A-C.
16  results:
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9

Identification of 4 novel human ocular coloboma genes ANK3,..:

Owen, N ; Toms, M ; Young, RM...
https://discovery.ucl.ac.uk/id/eprint/10142114/1/Owen_Identification%20of%204%20novel%20human%20ocular%20coloboma%20genes%20ANK3,%20BMPR1B,%20PDGFRA,%20and%20CDH4%20through%20evolutionary%20conserved%20vertebrate%20gene%20analysis_AOP.pdf.  , 2022
 
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10

Assessing the digenic model in rare disorders using populat..:

Moreno-Ruiz, N ; Ambrose, JC ; Arumugam, P...
https://discovery.ucl.ac.uk/id/eprint/10158400/1/Ryten_Assessing%20the%20digenic%20model%20in%20rare%20disorders%20using%20population%20sequencing%20data_AOP.pdf.  , 2022
 
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12

Heterozygous lamin B1 and lamin B2 variants cause primary m..:

Parry, DA ; Martin, CA ; Greene, P...
https://discovery.ucl.ac.uk/id/eprint/10113404/1/s41436-020-00980-3.pdf.  , 2020
 
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13

Genomic loci susceptible to systematic sequencing bias in c..:

Freeman, TM ; Wang, D ; Harris, J...
https://discovery.ucl.ac.uk/id/eprint/10094957/1/Genome%20Res.-2020-Freeman-415-26.pdf.  , 2020
 
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