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International Nomenclature of Constitutional Diseases
Current Status of 3Cell Infusions in Completely Reversing
A Syndrome of Osteogenesis Imperfecta Microcephaly
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0-galactosidase 1978 The National abnormalities acid anomalies Apert syndrome associated autosomal dominant autosomal recessive BD:OAS Bergsma bilateral biochemical Birth Defects bone brain cartilage cells Center cerebellar cerebral cholesterol chromosome clinical COFS syndrome collagen congenital deafness deficiency Department of Pediatrics diabetes diagnosis disease disorder dwarfism dysplasia enzyme examination exstrophy facial female fibrils fibroblasts Foundation-March of Dimes gene growth holoprosencephaly hydrocephalus hyperlipidemia hypertriglyceridemia hypoplasia hypoplastic infants inheritance islets Kaveggia Krabbe Krabbe disease limb lipase lipid lipoprotein liver male malformation syndromes Medical Genetics mental retardation metabolism mg/dl microcephaly months mother mucolipidosis multiple muscle National Foundation National Foundation-March normal Number 6B OEIS complex Opitz JM Original Article Series pancreatic parents patients phenotype plasma polydactyly popliteal pterygium syndrome pregnancy present proband questionnaire renal reported retinal seizures serum showed similarly affected sibs skeletal skin sporadic studies syndactyly Table teratomas tion tissue transplantation trisomy twin Volume XIV