Disease: Microcephaly- primary autosomal recessive
- "An unprecedented occurrence: a case report of pulmonary hypertension manifestation in Donohue syndrome"
- A commentary on "Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models"
- A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly
- A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review
- Advanced Early-Onset Fahr's Disease: A Case Report
- Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
- Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in <em>ASPM</em> and <em>WDR62</em> Genes
- Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript
- Case report: Compound heterozygous <em>NUP85</em> variants cause autosomal recessive primary microcephaly
- Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations
- Case report: The evolving phenotype of <em>ESCO2</em> spectrum disorder in a 15-year-old Malaysian child
- Congenital hyperreninemic hypoaldosteronism: A case report
- Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review
- Epigenetic and transcriptional landscapes during cerebral cortex development in a microcephaly mouse model
- Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly
- Genetic susceptibility of vitamin D receptor gene polymorphisms on autosomal recessive primary microcephaly patients in Pakistani population: a case-control and in-silico study
- Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis
- Investigating the effects of a single ASPM variant (c.8508_8509) on brain architecture among siblings in a consanguineous Pakistani family
- Loss of Aspm causes increased apoptosis of developing neural cells during mouse cerebral corticogenesis
- Microcephaly-associated protein WDR62 shuttles from the Golgi apparatus to the spindle poles in human neural progenitors
- Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly
- Mutations in abnormal spindle disrupt temporal transcription factor expression and trigger immune responses in the Drosophila brain
- Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction
- Prenatal Identification of a Novel Mutation in the <em>MCPH1</em> Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature
- Proteome changes in autosomal recessive primary microcephaly
- Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models
- SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome
- Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family
- The impact of TP53 activation and apoptosis in primary hereditary microcephaly
- The Multiple Mitotic Roles of the ASPM Orthologous Proteins: Insight into the Etiology of ASPM-Dependent Microcephaly
- The neurodevelopmental transcriptome of the <em>Drosophila melanogaster</em> microcephaly gene <em>abnormal spindle</em> reveals a role for temporal transcription factors and the immune system in regulating brain size
- YIPF5 (p.W218R) mutation induced primary microcephaly in rabbits