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American Journal of Medical Genetics. Supplement|January 1, 1990
The consequences of chromosome imbalanceC J EpsteinInvestigative Ophthalmology|June 1, 1975
Mucolipidosis IV: ocular, systemic, and ultrastructural findingsS Merin, N Livni, E R Berman, et al.Journal of Medical Genetics|July 21, 2010
Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the diseaseC Spits, S Seneca, P Hilven, et al.Epilepsia|January 1, 1988
Prolonged electrocerebral silent barbiturate coma in intractable seizure disordersR Amit, K J Goitein, I Mathot, et al.Pediatric Research|December 5, 2000
Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiencyA K Cardozo, L De Meirleir, I Liebaers, et al.Reproductive Biomedicine Online|December 4, 2010
Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriagesK Stouffs, D Vandermaelen, H Tournaye, et al.Human Genetics|September 1, 1990
The deletion F508 is the major gene mutation in a representative Belgian cystic fibrosis populationM Bonduelle, W Lissens, A Malfroot, et al.Journal of Inherited Metabolic Disease|January 1, 1981
Multiple sulphatase deficiency with early onsetE Vamos, I Liebaers, N Bousard, et al.European Journal of Pediatrics|November 1, 1985
Neonatal hepatitis with obstructive jaundice in an SZ heterozygous alpha 1-antitrypsin-deficient boy and destructive lung disease in his SZ mother. A review of the literatureY Vandenplas, J Franckx, I Liebaers, et al.European Journal of Pediatrics|August 17, 1978
Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrumJ Spranger, M Cantz, J Gehler, et al.Pageof 50