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The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction. Eur J Pediatr (1981) 1.04

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet (2001) 1.03

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Localisation of gene for the naevoid basal-cell carcinoma syndrome. Lancet (1992) 1.03

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Further delineation of the branchio-oculo-facial syndrome. Am J Med Genet (1995) 0.97

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Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. Hum Genet (1999) 0.92

Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21. Hum Genet (1992) 0.91

Balanced t(6;8)(6p8p;6q8q) and the CHARGE association. J Med Genet (1991) 0.91

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. J Med Genet (2002) 0.91

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Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis. Am J Med Genet (1987) 0.90

The teratogenicity of hydantoins and barbiturates in humans, with considerations on the etiology of malformations and cerebral disturbances in the children of epileptic parents. Int J Biol Res Pregnancy (1981) 0.89

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Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome. Eur J Pediatr (1991) 0.87

Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Am J Hum Genet (2001) 0.87

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De novo translocation t(Yq-; 15p+) in a malformed boy. Humangenetik (1973) 0.87

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients. Eur J Pediatr (1994) 0.86

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Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp. Hum Genet (1998) 0.86

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Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, and autosomal recessive syndrome. Am J Med Genet (1992) 0.85

One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC). Genet Couns (2001) 0.85

[On the embryo-fetal alcohol syndrome (author's transl)]. Eur J Pediatr (1976) 0.85

Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency. Arch Dermatol (1996) 0.85

"C" trigonocephaly syndrome with diaphragmnatic hernia. Genet Couns (1995) 0.85

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Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. Hum Mutat (1998) 0.85

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The Dubowitz syndrome. Eur J Pediatr (1986) 0.83

Pallister-Killian syndrome in older children and adolescents. Pediatr Neurol (1993) 0.83

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Isochromosome Xq in Klinefelter syndrome: report of 7 new cases. Am J Med Genet (1996) 0.83

Nevus psiloliparus: a distinct fatty tissue nevus. Dermatology (1998) 0.83

New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects. Am J Med Genet (1993) 0.82