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Genotype-Phenotype Correlation in Eight New Patients With a Deletion Encompassing 2q31.1
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Barber-Say syndrome in a father and daughter
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Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene
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Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome
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Expanding CEP290 mutational spectrum in ciliopathies
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Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome: Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion
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Mesomelic Dysplasia With Acral Synostoses Verloes-David-Pfeiffer Type: Follow-Up Study Documents Progressive Clinical Course
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Hartsfield Holoprosencephaly-Ectrodactyly Syndrome in Five Male Patients: Further Delineation and Review
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Strong Linkage Disequilibrium for the Frequent GJB2 35delG Mutation in the Greek Population
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Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome