subject area of
- A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene Journal Articles
- A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia". Journal Articles
- A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome. Journal Articles
- BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes Journal Articles
- Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Journal Articles
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus Journal Articles
- Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies” Journal Articles
- De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder Journal Articles
- De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay Journal Articles
- Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy? Journal Articles
- Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype Journal Articles
- Epilepsy in KBG Syndrome: Report of Additional Cases Journal Articles
- Fetal Autopsy Findings of Cardiofaciocutaneous Syndrome with a Unique BRAF Mutation Journal Articles
- Fibrochondrogenesis: Prenatal diagnosis and outcome Journal Articles
- Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation Journal Articles
- Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability Journal Articles
- Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome Journal Articles
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome Journal Articles
- New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome Journal Articles
- Partial monosomy 1q43 and partial trisomy 20q13.2: a case report Journal Articles
- Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance Journal Articles
- Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders Journal Articles
- Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity Journal Articles
- Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p Journal Articles