Disease: Seckel syndrome 1
- A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features
- A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome
- ATR promotes cilia signalling: links to developmental impacts
- ATR regulates neuronal activity by modulating presynaptic firing
- Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
- Case report: Compound heterozygous <em>NUP85</em> variants cause autosomal recessive primary microcephaly
- Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review
- Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
- Delineating the phenotype of RNU4ATAC-related spliceosomopathy
- Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy
- Further delineation of the phenotype caused by biallelic variants in the WDR4 gene
- Growth in individuals with Saul-Wilson syndrome
- Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III
- Intracranial aneurysms in microcephalic primordial dwarfism: a systematic review
- Modifier Genes in Microcephaly: A Report on <em>WDR62</em>, <em>CEP63</em>, <em>RAD50</em> and <em>PCNT</em> Variants Exacerbating Disease Caused by Biallelic Mutations of <em>ASPM</em> and <e
- Nanocellulose-Based Interpenetrating Polymer Network (IPN) Hydrogels for Cartilage Applications
- Nucleolar residence of the seckel syndrome protein TRAIP is coupled to ribosomal DNA transcription
- Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature
- Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders
- Siblings Seckel's syndrome 1 caused by ATR gene variants in a sibpair
- The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso)
- TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
- Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model