about
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutationsWhole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.Professional Issues of International Genetic Counseling Students Educated in the United States.
P50
description
onderzoeker
@nl
researcher
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հետազոտող
@hy
name
Gozde Tugce Akgumus
@ast
Gozde Tugce Akgumus
@en
Gozde Tugce Akgumus
@es
Gozde Tugce Akgumus
@nl
type
label
Gozde Tugce Akgumus
@ast
Gozde Tugce Akgumus
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Gozde Tugce Akgumus
@es
Gozde Tugce Akgumus
@nl
prefLabel
Gozde Tugce Akgumus
@ast
Gozde Tugce Akgumus
@en
Gozde Tugce Akgumus
@es
Gozde Tugce Akgumus
@nl
P106
P31
P496
0000-0002-7410-8650