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Craniofacial AbnormalitiesConcept Why?
A novel mutation in EED associated with overgrowth.Academic Article Why?
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.Academic Article Why?
Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.Academic Article Why?
Ehsan, ZarminaPerson Why?
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.Academic Article Why?
Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome.Academic Article Why?
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.Academic Article Why?
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 Why?
Rush, EricPerson Why?
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.Academic Article Why?
Farooqi, MidhatPerson Why?
Cohen, AnaPerson Why?
Developmental defects and male sterility in mice lacking the ubiquitin-like DNA repair gene mHR23B.Academic Article Why?
Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.Academic Article Why?
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