9 results on '"DYNC1H1"'
Search Results
2. Congenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes
3. Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations
4. Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation
5. Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy
6. Discovery of specific mutations in spinal muscular atrophy patients by next-generation sequencing
7. Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy
8. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1
9. A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance
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