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Nosology and classification of genetic skeletal disorders: 2006 revision
Neuropathic features in fragile X premutation carriers
Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia
Hematological abnormalities during the first week of life among neonates with Down syndrome: Data from a multihospital healthcare system
Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene
Anophthalmia-plus syndrome: A clinical report and review of the literature
A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17
Pericentric inversion causing duplication and deletion of chromosome region 13q22→qter in the offspring
Non-chromosome 11-p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case
Studies with MMP9 gene promoter polymorphism and nonsyndromic cleft lip and palate
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8
Multiple primary tumors associated with chromosome 9p deletion
Angelman syndrome caused by an identical familial 1,487-kb deletion
Ethnicity versus early environment: Comment on ‘Early Childhood Music Education and Predisposition to Absolute Pitch: Teasing Apart Genes and Environment’ by Peter K. Gregersen, Elena Kowalsky, Nina Kohn, and Elizabeth West Marvin [2000],
Reply to Henthorn and Deutsch: Ethnicity versus early environment: Comment on ‘Early Childhood Music Education and Predisposition to Absolute Pitch: Teasing Apart Genes and Environment’ by Peter K. Gregersen, Elena Kowalsky, Nina Kohn, and Elizabeth West Marvin [2000],