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Turnpenny, PD
15  results:
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1

Characteristics of fetal anticonvulsant syndrome associated..:

Rasalam, AD ; Hailey, H ; Williams, JHG...
Developmental Medicine & Child Neurology.  47 (2005)  8 - p. 551-555 , 2005
Link: https://doi.org/10.1017/..
 
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2

Pseudodominant inheritance of spondylocostal dysostosis typ..:

Whittock, NV ; Ellard, S ; Duncan, J...
Clinical Genetics.  66 (2004)  1 - p. 67-72 , 2004
Link: https://doi.org/10.1111/..
 
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3

SLC4A10 mutation causes a neurological disorder associated ..:

Fasham, J ; Huebner, AK ; Liebmann, L...
https://openaccess.sgul.ac.uk/id/eprint/115896/1/awad235.pdf.  , 2023
Link: https://openaccess.sgul...
 
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4

The phenotypic continuum of ATP1A3-related disorders:

Vezyroglou, A ; Akilapa, R ; Barwick, K...
https://eprints.whiterose.ac.uk/192611/6/e1511.full.pdf.  , 2022
Link: https://eprints.whiteros..
 
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5

The Phenotypic Continuum of ATP1A3-Related Disorders:

Vezyroglou, A ; Akilapa, R ; Barwick, K...
https://openaccess.sgul.ac.uk/id/eprint/114647/7/e1511.full.pdf.  , 2022
Link: https://openaccess.sgul...
 
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6

Natural history of NF1 c.2970_2972del p.(Met992del): confir..:

Forde, C ; Burkitt-Wright, E ; Turnpenny, PD...
https://openaccess.sgul.ac.uk/id/eprint/113939/1/s41431-021-01015-4.pdf.  , 2022
Link: https://openaccess.sgul...
 
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7

The phenotypic continuum of ATP1A3-related disorders:

Vezyroglou, A ; Akilapa, R ; Barwick, K...
doi:10.1212/wnl.0000000000200927.  , 2022
Link: https://doi.org/10.1212/..
 
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8

Final Exon Frameshift Biallelic PTPN23 Variants Are Associa..:

Khalaf-Nazzal, R ; Fasham, J ; Ubeyratna, N...
https://discovery.ucl.ac.uk/id/eprint/10139089/1/brainsci-11-00614.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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9

Delineating the molecular and phenotypic spectrum of the SE..:

Weerts, MJA ; Lanko, K ; Guzman-Vega, FJ...
https://discovery.ucl.ac.uk/id/eprint/10133041/1/s41436-021-01246-2.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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10

Delineating the molecular and phenotypic spectrum of the SE..:

Weerts, MJA ; Lanko, K ; Guzmán-Vega, FJ...
https://openaccess.sgul.ac.uk/id/eprint/114578/1/1-s2.0-S1098360021051728-main.pdf.  , 2021
Link: https://openaccess.sgul...
 
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11

Delineation of dominant and recessive forms of LZTR1-associ..:

Pagnamenta, AT ; Kaisaki, PJ ; Bennett, F...
https://openaccess.sgul.ac.uk/id/eprint/111376/1/Pagnamenta_et_al-2019-Clinical_Genetics.pdf.  , 2019
Link: https://openaccess.sgul...
 
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12

Diagnosis of lethal or prenatal-onset autosomal recessive d..:

Stals, KL ; Wakeling, M ; Baptista, J...
https://openaccess.sgul.ac.uk/id/eprint/110101/1/Stals_et_al-2018-Prenatal_Diagnosis.pdf.  , 2018
Link: https://openaccess.sgul...
 
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13

Diagnosis of lethal or prenatal-onset autosomal recessive d..:

Stals, KL ; Wakeling, M ; Baptista, J...
issn:0197-3851.  , 2018
Link: http://hdl.handle.net/11..
 
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14

Whole exome sequencing in family trios reveals de novo muta..:

Hunt, D ; Leventer, RJ ; Simons, C...
issn:0022-2593.  , 2014
Link: http://hdl.handle.net/11..
 
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15

Adults with RRM2B-related mitochondrial disease have distin..:

Pitceathly, RD ; Smith, C ; Fratter, C...
https://discovery.ucl.ac.uk/id/eprint/1380635/1/Brain-2012-Pitceathly-3392-403.pdf.  , 2012
Link: https://discovery.ucl.ac..
 
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