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Eberhardt, RY
14  Ergebnisse:
Personensuche X
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1

Fetal exome sequencing for isolated increased nuchal transl..:

Mellis, R ; Eberhardt, RY ; Hamilton, SJ...
BJOG: An International Journal of Obstetrics & Gynaecology.  129 (2021)  1 - p. 52-61 , 2021
Link: https://doi.org/10.1111/..
 
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2

Genomic diagnosis of rare pediatric disease in the United K..:

Wright, CF ; Campbell, P ; Eberhardt, RY...
doi:10.1056/nejmoa2209046.  , 2023
Link: https://doi.org/10.1056/..
 
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3

Prevalence of Deleterious Variants in MC3R in Patients With..:

Duckett, K ; Williamson, A ; Kincaid, JWR...
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM.  , 2023
Link: https://qmro.qmul.ac.uk/..
 
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4

Genomic diagnosis of rare pediatric disease in the United K..:

Wright, CF ; Campbell, P ; Eberhardt, RY...
orcid:0000-0003-2958-5076 (Wright, Caroline).  , 2023
Link: http://hdl.handle.net/10..
 
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5

Fetal exome sequencing for isolated increased nuchal transl..:

Mellis, R ; Eberhardt, RY ; Hamilton, SJ...
https://discovery.ucl.ac.uk/id/eprint/10133874/1/Mellis_BJOG%20-%202021%20-%20Mellis%20-%20Fetal%20exome%20sequencing%20for%20isolated%20increased%20nuchal%20translucency%20%20should%20we%20be%20doing%20it.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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6

Non-coding region variants upstream of MEF2C cause severe d..:

Wright, CF ; Quaife, NM ; Ramos-Hernández, L...
American Journal of Human Genetics.  , 2021
Link: http://hdl.handle.net/10..
 
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7

Fetal exome sequencing for isolated increased nuchal transl..:

Mellis, R ; Eberhardt, RY ; Hamilton, SJ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9292445/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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8

COngenital heart disease and the Diagnostic yield with Exom..:

Mone, F ; Eberhardt, RY ; Morris, RK...
https://discovery.ucl.ac.uk/id/eprint/10104430/1/Chitty_COngenital%20heart%20disease%20and%20the%20Diagnostic%20yield%20with%20Exome%20sequencing%20%28CODE%20Study%29_AAM.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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9

Fetal hydrops and the Incremental yield of Next-generation ..:

Mone, F ; Eberhardt, RY ; Hurles, ME...
https://openaccess.sgul.ac.uk/id/eprint/113789/1/uog.23652.pdf.  , 2021
Link: https://openaccess.sgul...
 
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10

The contribution of X-linked coding variation to severe dev..:

Martin, HC ; Gardner, EJ ; Samocha, KE...
https://discovery.ucl.ac.uk/id/eprint/10121927/1/s41467-020-20852-3.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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11

Evidence for 28 genetic disorders discovered by combining h..:

Kaplanis, J ; Samocha, KE ; Wiel, L...
Kaplanis , J , Samocha , KE , Wiel , L , Zhang , Z , Arvai , KJ , Eberhardt , RY , Gallone , G , Lelieveld , SH , Martin , HC , McRae , JF , Short , PJ , Torene , RI , de , B E & Retterer , K 2020 , ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ' , Nature , vol. 586 , no. 7831 , pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5.  , 2020
Link: https://research.manches..
 
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12

Evidence for 28 genetic disorders discovered by combining h..:

Kaplanis, J ; Samocha, KE ; Wiel, L...
https://discovery.ucl.ac.uk/id/eprint/10133185/1/Ryten_797787v3.full.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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13

Prenatal exome sequencing analysis in fetal structural anom..:

Lord, J ; McMullan, DJ ; Eberhardt, RY...
https://discovery.ucl.ac.uk/id/eprint/10070239/1/18TL0646.pdf.  , 2019
Link: https://discovery.ucl.ac..
 
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14

Prenatal exome sequencing analysis in fetal structural anom..:

Lord, J ; McMullan, DJ ; Eberhardt, RY...
https://eprints.whiterose.ac.uk/157005/1/1-s2.0-S0140673618319408-main.pdf.  , 2019
Link: https://eprints.whiteros..
 
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