Published in Suffolk Univ Law Rev on January 01, 1993
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med (2013) 1.56
Gene sequencing in neonates and infants with the long QT syndrome. Genet Test (2005) 0.97
A large deletion in the CFTR gene in CBAVD. Genet Med (2006) 0.93
Sickle Cell Disease. N Engl J Med (2017) 0.88
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet (2004) 0.85
Molecular characterization of the TCP11 gene which is the human homologue of the mouse gene encoding the receptor of fertilization promoting peptide. Mol Hum Reprod (2002) 0.83
CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype. Genet Med (2006) 0.82
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. Hum Reprod (2002) 0.82
Chromosomal anomalies among the offspring of women with gestational diabetes. Am J Epidemiol (2002) 0.82
A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations. Eur J Med Genet (2007) 0.82
Folate intake and the risk of neural tube defects: an estimation of dose-response. Epidemiology (2003) 0.82
Correlation of abnormal rapid FISH and chromosome results from amniocytes for prenatal diagnosis. Fetal Diagn Ther (2006) 0.81
Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics (2010) 0.80
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. Am J Med Genet A (2011) 0.79
Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. Genet Test Mol Biomarkers (2010) 0.79
A de novo complex chromosome rearrangement involving chromosomes 2, 3, 5, 9 and 11 detected prenatally and studied postnatally by conventional cytogenetics and molecular cytogenetic analyses. Fetal Diagn Ther (2007) 0.79
Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. Am J Med Genet A (2010) 0.76
Hypoxic spinal cord injury and/or abnormality in utero. Pediatr Neurol (2007) 0.75
Genetic testing and individual rights. Suffolk Univ Law Rev (1993) 0.75
A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations. Eur J Med Genet (2008) 0.75
Genetic counseling, the ophthalmologist and the law. Metab Ophthalmol (1977) 0.75
A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18. Genet Test Mol Biomarkers (2009) 0.75