about
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorderHuman cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapyPlanned preterm delivery and treatment of retinal neovascularization in Norrie disease.Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaCase of Small Vessel Disease Associated with COL4A1 Mutations following Trauma.Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.Heterochronic misexpression of Ascl1 in the Atoh7 retinal cell lineage blocks cell cycle exitA mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure.Gene therapy for Leber congenital amaurosis: advances and future directions.Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.Conserved regulation of Math5 and Math1 revealed by Math5-GFP transgenesDisruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionSmall bowel malrotation in distal 15q duplication: evidence for a rare associationHigh-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular colobomaPNPLA6-Related Disorders
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Robert B Hufnagel
@ast
Robert B Hufnagel
@en
Robert B Hufnagel
@es
Robert B Hufnagel
@nl
Robert B Hufnagel
@sl
type
label
Robert B Hufnagel
@ast
Robert B Hufnagel
@en
Robert B Hufnagel
@es
Robert B Hufnagel
@nl
Robert B Hufnagel
@sl
prefLabel
Robert B Hufnagel
@ast
Robert B Hufnagel
@en
Robert B Hufnagel
@es
Robert B Hufnagel
@nl
Robert B Hufnagel
@sl
P106
P21
P31
P496
0000-0003-3015-3545