subject area of
- A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene Academic Article
- A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia". Academic Article
- A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome. Academic Article
- BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes Academic Article
- Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Academic Article
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus Academic Article
- Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies” Academic Article
- De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder Academic Article
- De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay Academic Article
- Deletion ofMAP2K2/MEK2: a novel mechanism for a RASopathy? Academic Article
- Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype Academic Article
- Fetal Autopsy Findings of Cardiofaciocutaneous Syndrome with a Unique BRAF Mutation Academic Article
- Fibrochondrogenesis: Prenatal diagnosis and outcome Academic Article
- Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation Academic Article
- Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability Academic Article
- Mutation analysis of theFRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome Academic Article
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome Academic Article
- New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome Academic Article
- Partial monosomy 1q43 and partial trisomy 20q13.2: a case report Academic Article
- Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance Academic Article
- Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders Academic Article
- Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity Academic Article
- Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p Academic Article