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C A Francomano

Showing results (61-70 of 101) with videos related to

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Genomics|August 1, 1993
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndromeH C Dietz, I McIntosh, L Y Sakai, et al.
American Journal of Medical Genetics|November 1, 1992
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasiaJ T Hecht, S H Blanton, Y Wang, et al.
Lancet (London, England)|November 26, 1994
First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasiaG A Bellus, C S Escallon, R Ortiz de Luna, et al.
American Journal of Human Genetics|December 5, 1998
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndromeR A Montgomery, M T Geraghty, E Bull, et al.
American Journal of Human Genetics|July 1, 1995
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic ampliconsG Nijbroek, S Sood, I McIntosh, et al.
Lancet (London, England)|April 12, 1997
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosisD M Moloney, S A Wall, G J Ashworth, et al.
American Journal of Epidemiology|April 1, 1995
Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defectsS J Hwang, T H Beaty, S R Panny, et al.
Genomics|February 1, 1991
The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3H C Dietz, R E Pyeritz, B D Hall, et al.
Journal of Pediatric Orthopedics|August 25, 2001
The hip in Stickler syndromeP S Rose, N U Ahn, H P Levy, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|March 21, 1998
Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21M R Johnson, D J Wilkin, H L Vos, et al.
Pageof 11

Showing results (61-70 of 101) with videos related to

Sort By:
Pageof 11
Genomics|August 1, 1993
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndromeH C Dietz, I McIntosh, L Y Sakai, et al.
American Journal of Medical Genetics|November 1, 1992
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasiaJ T Hecht, S H Blanton, Y Wang, et al.
Lancet (London, England)|November 26, 1994
First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasiaG A Bellus, C S Escallon, R Ortiz de Luna, et al.
American Journal of Human Genetics|December 5, 1998
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndromeR A Montgomery, M T Geraghty, E Bull, et al.
American Journal of Human Genetics|July 1, 1995
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic ampliconsG Nijbroek, S Sood, I McIntosh, et al.
Lancet (London, England)|April 12, 1997
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosisD M Moloney, S A Wall, G J Ashworth, et al.
American Journal of Epidemiology|April 1, 1995
Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defectsS J Hwang, T H Beaty, S R Panny, et al.
Genomics|February 1, 1991
The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3H C Dietz, R E Pyeritz, B D Hall, et al.
Journal of Pediatric Orthopedics|August 25, 2001
The hip in Stickler syndromeP S Rose, N U Ahn, H P Levy, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|March 21, 1998
Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21M R Johnson, D J Wilkin, H L Vos, et al.
Pageof 11