Search Results (20)
Click the Why column to see why an item matched the search.
| Match | Type | Why |
|---|
| Craniofacial Abnormalities | Concept |
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| A novel mutation in EED associated with overgrowth. | Academic Article |
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| A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. | Academic Article |
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| Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies. | Academic Article |
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| Ehsan, Zarmina | Person |
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| Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. | Academic Article |
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| Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome. | Academic Article |
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| Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. | Academic Article |
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| Tourette syndrome, obsessive compulsive behavior, and dysmorphic features in a patient with deletions at chromosome 18q22.1 and chromosome 13q12.3-q13.1. | Academic Article |
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| Rush, Eric | Person |
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| DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. | Academic Article |
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| Resorbable PLLA-PGA plate and screw fixation in pediatric craniofacial surgery: clinical experience in 1883 patients. | Academic Article |
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| Farooqi, Midhat | Person |
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| Cohen, Ana | Person |
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| Developmental defects and male sterility in mice lacking the ubiquitin-like DNA repair gene mHR23B. | Academic Article |
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