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Foulds, Nicola
141  results:
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1

HNRNPA2B1 myopathy presenting in a family with an early ons..:

Carroll, Liam S ; Ennis, Sarah ; Foulds, Nicola.
Neuromuscular Disorders.  34 (2024)  - p. 27-31 , 2024
Link: https://doi.org/10.1016/..
 
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2

Pathogenic variants in KMT2C result in a neurodevelopmental..:

Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor...
The American Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1016/..
 
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3

Gain-of-function variants in the ion channel gene TRPM3 und..:

Van Hoeymissen, Evelien ; Burglen, Lydie ; Qebibo, Leila...
eLife.  12 (2023)  - p. , 2023
Link: https://doi.org/10.7554/..
 
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4

Expanding the neurodevelopmental phenotype associated with ..:

Poole, Rebecca L. ; Badonyi, Mihaly ; Cozens, Alison...
European Journal of Medical Genetics.  66 (2023)  3 - p. 104696 , 2023
Link: https://doi.org/10.1016/..
 
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5

Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:

Kim, Hong Joo ; Mohassel, Payam ; Donkervoort, Sandra...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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6

Identification and functional evaluation of GRIA1 missense ..:

Ismail, Vardha ; Zachariassen, Linda G. ; Godwin, Annie...
The American Journal of Human Genetics.  109 (2022)  7 - p. 1217-1241 , 2022
Link: https://doi.org/10.1016/..
 
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7

De novo missense variants in FBXO11 alter its protein expre..:

Gregor, Anne ; Meerbrei, Tanja ; Gerstner, Thorsten...
Human Molecular Genetics.  31 (2021)  3 - p. 440-454 , 2021
Link: https://doi.org/10.1093/..
 
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8

Antenatal counselling for prospective parents whose fetus h..:

Hart, Anthony R ; Vasudevan, Chakra ; Griffiths, Paul D...
Developmental Medicine & Child Neurology.  64 (2021)  1 - p. 23-39 , 2021
Link: https://doi.org/10.1111/..
 
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9

Antenatal counselling for prospective parents whose fetus h..:

Hart, Anthony R ; Vollmer, Brigitte ; Howe, David...
Developmental Medicine & Child Neurology.  64 (2021)  1 - p. 14-22 , 2021
Link: https://doi.org/10.1111/..
 
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10

Further delineation of phenotypic spectrum of SCN2A‐related..:

Richardson, Ruth ; Baralle, Diana ; Bennett, Christopher...
American Journal of Medical Genetics Part A.  188 (2021)  3 - p. 867-877 , 2021
Link: https://doi.org/10.1002/..
 
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11

Diagnosis of pyridoxine‐dependent epilepsy in an adult pres..:

Osman, Chinar ; Foulds, Nicola ; Hunt, David..
Epilepsia.  61 (2019)  1 - p. , 2019
Link: https://doi.org/10.1111/..
 
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12

De Novo Missense Substitutions in the Gene Encoding CDK8, a..:

Calpena, Eduardo ; Hervieu, Alexia ; Kaserer, Teresa...
The American Journal of Human Genetics.  104 (2019)  4 - p. 709-720 , 2019
Link: https://doi.org/10.1016/..
 
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13

PAPSS2‐related brachyolmia: Clinical and radiological pheno..:

Bownass, Lucy ; Abbs, Stephen ; Armstrong, Ruth...
American Journal of Medical Genetics Part A.  179 (2019)  9 - p. 1884-1894 , 2019
Link: https://doi.org/10.1002/..
 
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14

Erratum: Corrigendum: Mutations in the histone methyltransf..:

UK10K Consortium ; Meyer, Esther ; Carss, Keren J...
Nature Genetics.  49 (2017)  6 - p. 969-969 , 2017
Link: https://doi.org/10.1038/..
 
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15

Mutations in the histone methyltransferase gene KMT2B cause..:

UK10K Consortium ; Meyer, Esther ; Carss, Keren J...
Nature Genetics.  49 (2016)  2 - p. 223-237 , 2016
Link: https://doi.org/10.1038/..
 
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