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Maher, ER
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1

Evidence to Support the Clinical Utility of Prenatal Exome ..:

Mone, F ; McMullan, DJ ; Williams, D...
BJOG: An International Journal of Obstetrics & Gynaecology.  128 (2021)  9 - p. , 2021
Link: https://doi.org/10.1111/..
 
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2

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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3

Meeting the challenge of interpreting high-resolution singl..:

Hillman, SC ; McMullan, DJ ; Maher, ER.
BJOG: An International Journal of Obstetrics & Gynaecology.  120 (2013)  10 - p. 1296-1296 , 2013
Link: https://doi.org/10.1111/..
 
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4

Clinical utility of array comparative genomic hybridisation..:

Hillman, SC ; McMullan, DJ ; Maher, ER.
BJOG: An International Journal of Obstetrics & Gynaecology.  119 (2012)  10 - p. 1281-1282 , 2012
Link: https://doi.org/10.1111/..
 
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5

RASSF2 can suppress the growth of breast cancer cell lines ..:

Cooper, WN ; Dickinson, RE ; Dallol, A...
Breast Cancer Research.  10 (2008)  S2 - p. , 2008
Link: https://doi.org/10.1186/..
 
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6

Loss of PL6 protein expression in renal clear cell carcinom..:

Ivanova, AV ; Vortmeyer, A ; Ivanov, SV...
The Journal of Pathology.  214 (2007)  1 - p. 46-57 , 2007
Link: https://doi.org/10.1002/..
 
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7

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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8

Elongin C (ELOC/TCEB1) associated von Hippel-Lindau disease:

Andreou, A ; Yngvadottir, B ; Bassaganyas, L...
https://openaccess.sgul.ac.uk/id/eprint/114242/6/ddac066.pdf.  , 2022
Link: https://openaccess.sgul...
 
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9

Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease:

Andreou, A ; Yngvadottir, B ; Bassaganyas, L...
Human molecular genetics, 2022, pp. ddac066 - ?.  , 2022
Link: https://repository.icr.a..
 
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10

Fetal central nervous system anomalies: When should we offe..:

Baptiste, C ; Mellis, R ; Aggarwal, V...
https://discovery.ucl.ac.uk/id/eprint/10147064/1/Prenatal%20Diagnosis%20-%202022%20-%20Baptiste%20-%20Fetal%20central%20nervous%20system%20anomalies%20%20When%20should%20we%20offer%20exome%20sequencing.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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11

Investigating the role of somatic sequencing platforms for ..:

Winzeler, B ; Tufton, N ; Lim, E...
CLINICAL ENDOCRINOLOGY.  , 2022
Link: https://qmro.qmul.ac.uk/..
 
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12

Evaluation of tumour surveillance protocols and outcomes in..:

Maher, ER ; Adlard, J ; Barwell, J...
https://openaccess.sgul.ac.uk/id/eprint/114907/1/s41416-022-01724-7.pdf.  , 2022
Link: https://openaccess.sgul...
 
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13

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelop..:

Reid, KM ; Spaull, R ; Salian, S...
https://discovery.ucl.ac.uk/id/eprint/10153087/1/Movement%20Disorders%20-%202022%20-%20Reid%20-%20MED27%20%20SLC6A7%20%20and%20MPPE1%20Variants%20in%20a%20Complex%20Neurodevelopmental%20Disorder%20with%20Severe.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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14

Quantifying evidence toward pathogenicity for rare phenotyp..:

Garrett, A ; Loveday, C ; King, L...
Genetics in medicine : official journal of the American College of Medical Genetics, 2022, 24 (1), pp. 41 - 50.  , 2022
Link: https://repository.icr.a..
 
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15

Frequency of pathogenic germline variants in cancer suscept..:

Yngvadottir, B ; Andreou, A ; Bassaganyas, L...
6569867.  , 2022
Link: https://repository.icr.a..
 
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