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Alejandra King
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Cecilia Alvarez
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Item type:
Publication
,
Severe
<scp>SOPH</scp>
syndrome due to a novel
<i>NBAS</i>
mutation in a
<scp>27‐year‐old</scp>
woman—Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades
(
2020
)
Yves Lacassie
;
Britt Johnson
;
Guillermo Lay‐Son
;
Rita Quintana
;
Andrew King
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12
Scopus© Citations 13
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Item type:
Publication
,
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction
(
2020
)
Masamune Sakamoto
;
Den Kouhei
;
Muzhirah Haniffa
;
Sebastián Silva
;
Mónica Troncoso
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9
Scopus© Citations 16