Disease: Partial lissencephaly
- <em>PAFAH1B1</em>-Related Lissencephaly / Subcortical Band Heterotopia
- A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient
- A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia
- A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome
- Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse Models
- Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report
- Congenital pial AVF along the falx cerebri with complete agenesis of the corpus callosum and bilateral parasagittal pachygyria-polymicrogyria secondary to chronic ischemia
- Crk Haploinsufficiency Is Associated with Intrauterine Growth Retardation and Severe Postnatal Growth Failure
- De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR
- Embryology, Central Nervous System, Malformations
- Embryology, Central Nervous System, Malformations
- Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy
- Leveraging multiple approaches for detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: a case report
- Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report
- Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype
- Novel finding of lissencephaly and severe osteopenia in a Chinese patient with SATB2-associated syndrome and a brief review of literature
- PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia
- Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome
- Similar return to sport between double cortical button and docking techniques for ulnar collateral ligament reconstruction in baseball players
- Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy