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Your search keyword '"Mancini, Grazia M.S."' showing total 8 results

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8 results on '"Mancini, Grazia M.S."'

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1. Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.

2. Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

3. Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.

4. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.

5. RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

6. The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder.

7. RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

8. DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands

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