Pinki, Sandra
22  results:
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2

Recurrent de novoSPTLC2variant causes childhood-onset amyot..:

Syeda, Safoora B ; Lone, Museer A ; Mohassel, Payam...
Journal of Neurology, Neurosurgery & Psychiatry.  95 (2023)  2 - p. 103-113 , 2023
 
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3

Recurrent de novo SPTLC2 variant causes childhood-onset amy..:

Syeda, Safoora B ; Lone, Museer A ; Mohassel, Payam...
https://discovery.ucl.ac.uk/id/eprint/10183851/1/jnnp-2023-332132.full.pdf.  , 2023
 
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6

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

Kim, Hong Joo ; Mohassel, Payam ; Donkervoort, Sandra...
https://discovery.ucl.ac.uk/id/eprint/10147964/1/s41467-022-30015-1.pdf.  , 2022
 
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10

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

Kim, Hong Joo ; Mohassel, Payam ; Donkervoort, Sandra...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-022-30015-1.  , 2022
 
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12

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

Kim, Hong Joo ; Mohassel, Payam ; Donkervoort, Sandra...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-022-30015-1.  , 2022
 
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