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Hannah Titheradge
53  results:
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1

Pathogenic FLNA variants affecting the hinge region of fila..:

Wade, Emma M. ; Morgan, Tim ; Gimenez, Gregory...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

BG10 A case of pachydermoperiostosis (primary hypertrophic ..:

Brindley, Luke ; Hunjan, Manrup ; Lewis, Helen..
British Journal of Dermatology.  188 (2023)  Supplement_4 - p. , 2023
Link: https://doi.org/10.1093/..
 
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3

Paediatric survivors beyond infancy with Stüve-Wiedemann sy..:

McDermott, Helen ; Simmonds, Jennifer ; Thyagarajan, Manigandan...
European Journal of Medical Genetics.  66 (2023)  8 - p. 104788 , 2023
Link: https://doi.org/10.1016/..
 
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4

Expanding the phenotypic spectrum of Chromosome 16p13.11 mi..:

Hamad, Asma ; Sherlaw-Sturrock, Charlotte A. ; Glover, Kate...
European Journal of Medical Genetics.  66 (2023)  4 - p. 104714 , 2023
Link: https://doi.org/10.1016/..
 
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5

Correction: PSTPIP1-associated myeloid-related proteinaemia..:

Whiteside, Bethany Gillies ; Titheradge, Hannah ; Al-Abadi, Eslam
Pediatric Rheumatology.  21 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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6

Case Report: ISG15 deficiency caused by novel variants in t..:

Burleigh, Alice ; Moraitis, Elena ; Al Masroori, Eman...
Frontiers in Immunology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

Genetic testing of Behçet's disease using next-generation s..:

Burleigh, Alice ; Omoyinmi, Ebun ; Papadopoulou, Charalampia...
Rheumatology.  , 2023
Link: https://doi.org/10.1093/..
 
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8

PSTPIP1-associated myeloid-related proteinaemia inflammator..:

Whiteside, Bethany Gillies ; Titheradge, Hannah ; Al-Abadi, Eslam
Pediatric Rheumatology.  20 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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9

Evidence that autosomal recessive spastic cerebral palsy-1 ..:

Morgan, Neil V ; Yngvadottir, Bryndis ; O'Driscoll, Mary...
Brain Communications.  3 (2021)  1 - p. , 2021
Link: https://doi.org/10.1093/..
 
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10

Expanding the genotype–phenotype correlation ofde novoheter..:

Kanani, Farah ; Titheradge, Hannah ; Cooper, Nicola...
American Journal of Medical Genetics Part A.  182 (2020)  4 - p. 713-720 , 2020
Link: https://doi.org/10.1002/..
 
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11

OTULIN protects the liver against cell death, inflammation,..:

Damgaard, Rune Busk ; Jolin, Helen E. ; Allison, Michael E. D....
Cell Death & Differentiation.  27 (2020)  5 - p. 1457-1474 , 2020
Link: https://doi.org/10.1038/..
 
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12

Elucidating the genetic architecture of Adams-Oliver syndro..:

Meester, Josephina A.N. ; Sukalo, Maja ; Schröder, Kim C....
Human Mutation.  39 (2018)  9 - p. 1246-1261 , 2018
Link: https://doi.org/10.1002/..
 
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13

A homozygous variant disrupting the PIGH start-codon is ass..:

Pagnamenta, Alistair T. ; Murakami, Yoshiko ; Anzilotti, Consuelo...
Human Mutation.  39 (2018)  6 - p. 822-826 , 2018
Link: https://doi.org/10.1002/..
 
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14

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutat..:

Webb, Emma A. ; Balasubramanian, Meena ; Fratzl-Zelman, Nadja...
The Journal of Clinical Endocrinology & Metabolism.  102 (2017)  6 - p. 2019-2028 , 2017
Link: https://doi.org/10.1210/..
 
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15

Human biallelic MFN2 mutations induce mitochondrial dysfunc..:

Rocha, Nuno ; Bulger, David A ; Frontini, Andrea...
eLife.  6 (2017)  - p. , 2017
Link: https://doi.org/10.7554/..
 
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