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1.
SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.
Hum Mol Genet
; 29(24): 3882-3891, 2021 02 25.
Article
in English
| MEDLINE | ID: mdl-33355670
2.
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.
PLoS Genet
; 15(2): e1007917, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30707697
3.
Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis.
Hum Mol Genet
; 28(2): 320-331, 2019 01 15.
Article
in English
| MEDLINE | ID: mdl-30307508
4.
Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations.
Am J Hum Genet
; 103(1): 131-137, 2018 07 05.
Article
in English
| MEDLINE | ID: mdl-29909964
5.
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.
BMC Med Genet
; 19(1): 197, 2018 11 13.
Article
in English
| MEDLINE | ID: mdl-30424743
6.
Electrochemical micro-aptasensors for exosome detection based on hybridization chain reaction amplification.
Microsyst Nanoeng
; 7: 63, 2021.
Article
in English
| MEDLINE | ID: mdl-34567775
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