Published in Hum Genet on January 01, 1985
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DNA fingerprints applied to gene introgression in breeding programs. Genetics (1990) 2.70
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The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase. Proc Natl Acad Sci U S A (1972) 2.32
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The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet (1983) 2.15
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Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel. Am J Med Genet (1993) 1.50
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The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A (1996) 1.41
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Evidence for a major gene affecting the transition from normoglycaemia to hyperglycaemia in Psammomys obesus. Heredity (Edinb) (2005) 1.40
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Increased maternal serum alpha fetoprotein in congenital hypothyroidism. Lancet (1991) 1.38
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. Am J Hum Genet (1999) 1.32
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A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. Mol Genet Metab (2004) 1.21
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet (1997) 1.18
The role of elastoviscosity in the efficacy of viscosupplementation for osteoarthritis of the knee: a comparison of hylan G-F 20 and a lower-molecular-weight hyaluronan. Clin Ther (1999) 1.17
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Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. J Med Genet (2004) 1.13
Arylsulfatase A in pseudodeficiency. Hum Genet (1984) 1.12
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet (1997) 1.11
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Proximal and distal regulatory elements that influence in vivo expression of a cell cycle-dependent human H4 histone gene. Proc Natl Acad Sci U S A (1987) 1.11
The Hunter corrective factor. Purification and preliminary characterization. J Biol Chem (1972) 1.11
Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship. J Med Genet (1981) 1.11
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet (1995) 1.10
Workshop on inborn errors of metabolism. Prog Clin Biol Res (1982) 1.09
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. Neuropediatrics (2002) 1.09
Multiple mutations in a specific gene in a small geographic area: a common phenomenon? Am J Hum Genet (1996) 1.08
Molecular basis of mendelian disorders among Jews. Mol Genet Metab (2000) 1.08
Incidence of mucopolysaccharidoses in Israel: is Hunter disease a "Jewish disease"? Hum Genet (1980) 1.07
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Hum Genet (1996) 1.07
Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. Am J Hum Genet (1993) 1.07
Molecular genetics of metachromatic leukodystrophy. Hum Mutat (1994) 1.05
Amyloid plaques arise from zinc-enriched cortical layers in APP/PS1 transgenic mice and are paradoxically enlarged with dietary zinc deficiency. Neuroscience (2007) 1.04
Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect. J Intellect Disabil Res (2007) 1.03
Combined enzymatic and linkage analysis for heterozygote detection in Hunter syndrome: identification of an apparent case of germinal mosaicism. Am J Med Genet (1993) 1.03
Selection in favor of lysosomal storage disorders? Am J Hum Genet (1988) 1.03
Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. Eur J Hum Genet (1998) 1.01
The applicability of the Hardy-Weinberg principle in the study of populations. Ann Hum Genet (1980) 1.01
Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV. Am J Hum Genet (1977) 1.00
Hunter's syndrome: activity of iduronate sulfate sulfatase in the serum of pregnant heterozygotes. N Engl J Med (1984) 1.00
Krabbe disease: increased incidence in a highly inbred community. Am J Med Genet (1985) 0.99
Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV. Biochem Biophys Res Commun (1975) 0.98
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Latent viruses and Bell's palsy in children. Eur Neurol (1978) 0.97
Heterogeneity of human hepatic H-acetyl-beta-D-hexosaminidose. A activity toward natural glycosphingolipid substrates. J Biol Chem (1975) 0.97
Mucolipidosis type IV: ganglioside sialidase deficiency. Biochem Biophys Res Commun (1979) 0.96
Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity. Biochem Biophys Res Commun (1983) 0.96
A genetic analysis of the Papillon-Lefèvre syndrome in a Jewish family from Cochin. Am J Med Genet (1978) 0.95
Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13. Am J Hum Genet (1999) 0.94
Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. J Med Genet (2010) 0.94
Heterozygote detection in Hunter syndrome. Am J Med Genet (1984) 0.93
On the inheritance of primary spontaneous pneumothorax. Am J Med Genet (1991) 0.92
Heterogeneity of the autosomal dominant split hand/split foot malformation. Am J Hum Genet (1995) 0.92
Genetic homogeneity of autoimmune polyglandular disease type I. Am J Hum Genet (1996) 0.92
Phospholipids accumulation in mucolipidosis IV cultured fibroblasts. J Inherit Metab Dis (1988) 0.92
The genetics of the aryl sulfatase A locus. Am J Hum Genet (1981) 0.92
Heparin-binding epidermal-growth-factor-like growth factor activation of keratinocyte ErbB receptors Mediates epidermal hyperplasia, a prominent side-effect of retinoid therapy. J Invest Dermatol (2001) 0.91
Pseudodeficiency of alpha-galactosidase A. Clin Genet (1982) 0.91
Familial café au lait spots: a variant of neurofibromatosis type 1. J Med Genet (1995) 0.91
Ganglioside GM3 sialidase activity in fibroblasts of normal individuals and of patients with sialidosis and mucolipidosis IV. Subcellular distribution and and some properties. Biochem J (1989) 0.90
Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur J Hum Genet (1996) 0.90
The femur, fibula, ulna (FFU) complex in siblings. Clin Genet (1983) 0.90
A new variant of mannosidosis with increased residual enzymatic activity and mild clinical manifestation. Pediatr Res (1978) 0.90
A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am J Hum Genet (1996) 0.90
The effects of a connexin 26 mutation--35delG--on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriers. Hear Res (2002) 0.89
Otoacoustic emissions and brainstem evoked potentials in compound carriers of connexin 26 mutations. Hear Res (2003) 0.89
Autosomal dominant inheritance of Klein-Waardenburg syndrome. Am J Med Genet (1992) 0.89