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Your search keyword '"Craig, C.E.H."' showing total 17 results

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17 results on '"Craig, C.E.H."'

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1. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

2. Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

3. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

4. Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

5. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

6. Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

7. Expanding SPTAN1monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

8. Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

9. DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

10. Heterozygous UCHL1loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

11. De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

12. Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4through evolutionary conserved vertebrate gene analysis

13. Biallelic CRELD1variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

14. Possible functional regression of insulinoma with prolonged octreotide. (Case Report)

16. Hepatocyte progenitor cells in massive hepatic necrosis

17. Extramedullary haematopoiesis in massive hepatic necrosis.

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