subject area of
- 4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations Journal Articles
- Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia Journal Articles
- Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Journal Articles
- Clinical Research in Pediatric Plastic Surgery and Systematic Review of Quality-of-Life Questionnaires Journal Articles
- Cobblestone Lissencephaly in Schinzel-Giedion Syndrome Journal Articles
- Cranial and hand skeleton in fragile X syndrome Journal Articles
- Craniofacial and dental findings in cystinosis Journal Articles
- Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly Journal Articles
- Development of a New Module of the FACE-Q for Children and Young Adults with Diverse Conditions Associated with Visible and/or Functional Facial Differences Journal Articles
- Diagnosis and clinical presentation of two individuals with a rareTCF20pathogenic variant Journal Articles
- FACE-Q Craniofacial Module: Part 1 validation of CLEFT-Q scales for use in children and young adults with facial conditions Journal Articles
- FACE-Q craniofacial module: Part 2 Psychometric properties of newly developed scales for children and young adults with facial conditions Journal Articles
- February consultation #4 Journal Articles
- Femoral–facial syndrome: Prenatal diagnosis and clinical features. Report of three cases Journal Articles
- Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association Journal Articles
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Genotype and phenotype in 12 additional individuals with
SATB2 ‐associated syndrome Journal Articles - Health Services Research Journal Articles
- Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations Journal Articles
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Journal Articles
- Measuring Outcomes in Craniofacial and Pediatric Plastic Surgery Journal Articles
- Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome Journal Articles
- Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients Journal Articles
- Production and Characterization of Monoclonal Antibodies to ARVCF Journal Articles
- Roberts syndrome fibroblasts showing cisplatin hypersensitivity have normal host cell reactivation of cisplatin-treated adenovirus and normal capacity of cisplatin-treated cells for adenovirus DNA synthesis Journal Articles
- Satisfaction with facial appearance and its determinants in adults with severe congenital facial disfigurement: A case-referent study Conferences
- The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature Journal Articles
- The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature Journal Articles
- The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Journal Articles