about
TUBB4A de novo mutations cause isolated hypomyelination.Whole exome sequencing in patients with white matter abnormalities.Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.Central nervous system-restricted familial hemophagocytic lymphohistiocytosis responds to hematopoietic cell transplantationAbsence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Jennifer Louise Patrick Murphy
@ast
Jennifer Louise Patrick Murphy
@en
Jennifer Louise Patrick Murphy
@es
Jennifer Louise Patrick Murphy
@nl
type
label
Jennifer Louise Patrick Murphy
@ast
Jennifer Louise Patrick Murphy
@en
Jennifer Louise Patrick Murphy
@es
Jennifer Louise Patrick Murphy
@nl
prefLabel
Jennifer Louise Patrick Murphy
@ast
Jennifer Louise Patrick Murphy
@en
Jennifer Louise Patrick Murphy
@es
Jennifer Louise Patrick Murphy
@nl
P106
P1153
56477862800
P21
P31
P496
0000-0003-1586-0890