Disease: Microcephaly- hiatal hernia and nephrotic syndrome
- A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report
- A new case of Melnick-Needles syndrome with skeletal manifestations: A case report
- A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs
- A patient diagnosed with Galloway-Mowat syndrome presenting with a rod-cone functional anomaly with electronegative dark-adapted ERGs
- A suite of in vitro and in vivo assays for monitoring the activity of the pseudokinase Bud32
- An unusual case of nephrotic syndrome in a microcephalic infant: Answers
- Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome
- Conservation and Diversification of tRNA t<sup>6</sup>A-Modifying Enzymes across the Three Domains of Life
- Defects in t(6)A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
- Defects in t<sup>6</sup>A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
- Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3
- ER stress and slit diaphragms: is there a connection?
- Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings
- Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome
- Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
- Galloway-Mowat Syndrome Type 3 Caused by <em>OSGEP</em> Gene Variants: A Case Report and Literature Review
- Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis
- Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome
- Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome
- Mutations in <em>PRDM15</em> Are a Novel Cause of Galloway-Mowat Syndrome
- Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
- Mutations in WDR4 as a new cause of Galloway-Mowat syndrome
- Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations
- Neuropathologic Findings in Galloway-Mowat Syndrome 3 With a Novel OSGEP Variant
- Novel <em>TP53RK</em> variants cause varied clinical features of Galloway-Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients
- Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature
- Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report
- Novel TP53RK variants cause varied clinical features of Galloway-Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients
- Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization
- Prdm15 acts upstream of Wnt4 signaling in anterior neural development of <em>Xenopus laevis</em>
- The transcription factor ATF4 mediates endoplasmic reticulum stress-related podocyte injury and slit diaphragm defects
- Ulectomy in a patient with nephrotic syndrome under investigation for Galloway-Mowat syndrome: a case report
- Wdr4 promotes cerebellar development and locomotion through Arhgap17-mediated Rac1 activation
- WDR73 Depletion Destabilizes PIP4K2C Activity and Impairs Focal Adhesion Formation in Galloway-Mowat Syndrome
- WDR73-related galloway mowat syndrome with collapsing glomerulopathy
- Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway-Mowat syndrome in Iran
- X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant