Published in Birth Defects Orig Artic Ser on January 01, 1974
Morphologic studies in the skeletal dysplasias. Am J Pathol (1979) 1.29
Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. J Med Genet (1985) 1.09
Manifesting heterozygosity in sex-linked spastic paraplegia? J Neurol Neurosurg Psychiatry (1984) 0.75
Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome. Mol Genet Metab Rep (2014) 0.75
Möbius syndrome with Poland's anomaly. J Med Genet (1973) 1.31
See-saw winking in a familial oral-facial-digital syndrome. Clin Genet (1971) 1.30
A case of cerebral gigantism and hepatocarcinoma. Am J Dis Child (1977) 1.15
Hyperargininemia with arginase deficiency. Pediatr Res (1979) 1.14
The facial-digital-genital (Aarskog) syndrome. Am J Dis Child (1973) 1.01
DeSanctis-Cacchione syndrome. A case report with autopsy findings. Arch Dermatol (1977) 0.95
Chondroitin-4-sulphate mucopolysaccharidosis--a new variant of Hurler's syndrome. Lancet (1969) 0.86
Cockayne syndrome: clinical study of two patients and neuropathologic findings in one. Clin Pediatr (Phila) (1977) 0.85
Syndrome of microcephaly, cataracts, kyphosis, and joint contractures versus Cockayne's syndrome. J Pediatr (1973) 0.81
Syndrome identification case report 91: orofacial defects and polysyndactyly. J Clin Dysmorphol (1983) 0.79
Ocular involvement in chondrodysplasia punctata. Am J Ophthalmol (1974) 0.79
A new syndrome of brachydactyly of the hands and feet with duplication of the first toes. Birth Defects Orig Artic Ser (1974) 0.77
Rectal bleeding from gastric tissue in the rectum. Lancet (1970) 0.76
The Larsen syndrome, autosomal dominant form. Birth Defects Orig Artic Ser (1975) 0.75
Two unusual neurocutaneous disorders with facial cutaneous signs. Arch Neurol (1969) 0.75
Ocular involvement in I-cell disease (mucolipidosis II). Light and electron microscopic findings. Albrecht Von Graefes Arch Klin Exp Ophthalmol (1976) 0.75
A case of an eight-toed foot. Birth Defects Orig Artic Ser (1974) 0.75
The REEDS syndrome. Birth Defects Orig Artic Ser (1974) 0.75
Epidermolysis bullosa dystrophica. Am J Dis Child (1972) 0.75
Unilateral nevus of Ota with sensorineural deafness. Arch Dermatol (1974) 0.75