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Cell Biochemistry and Function|April 30, 2002
Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L)Francesca Amati, Emanuela Conti, Annalisa Botta, et al.
Journal of Vascular Surgery|April 9, 2004
LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the diseaseMarineh Yagubyan, Jean M Panneton, Noralane M Lindor, et al.
Cell Biochemistry and Function|August 12, 2003
Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studiesFrancesca Amati, Ivano Condò, Emanuela Conti, et al.
European Journal of Human Genetics : EJHG|October 8, 2004
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndromeAnna Sarkozy, Maria Gabriela Obregon, Emanuela Conti, et al.
American Journal of Human Genetics|June 12, 2002
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 geneMaria Cristina Digilio, Emanuela Conti, Anna Sarkozy, et al.
American Journal of Medical Genetics. Part A|January 12, 2005
ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresiaAnna Sarkozy, Emanuela Conti, Rita D'Agostino, et al.
European Journal of Human Genetics : EJHG|April 18, 2003
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 geneEmanuela Conti, Nicoletta Grifone, Anna Sarkozy, et al.
American Journal of Medical Genetics. Part A|January 26, 2005
Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2M Cristina Digilio, Bruno Marino, Rossella Capolino, et al.
Human Mutation|November 9, 2004
Mutations of the Nogo-66 receptor (RTN4R) gene in schizophreniaLorenzo Sinibaldi, Alessandro De Luca, Emanuele Bellacchio, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|March 3, 2004
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutationsM Cristina Digilio, Giuseppe Pacileo, Anna Sarkozy, et al.
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