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O Zuffardi

Showing results (121-130 of 159) with videos related to

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Clinical Genetics|October 19, 2007
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndromeI Wieland, C Weidner, R Ciccone, et al.
Neuroscience|July 18, 2008
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformationsF Gianfrancesco, T Esposito, S Penco, et al.
Neurology|August 23, 2006
Periventricular heterotopia in fragile X syndromeF Moro, T Pisano, B Dalla Bernardina, et al.
American Journal of Human Genetics|April 29, 1998
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterilityS Bione, C Sala, C Manzini, et al.
Clinical Genetics|January 23, 2010
Eyebrow anomalies as a diagnostic sign of genomic disordersM Silengo, E Belligni, C Molinatto, et al.
Nature Genetics|June 1, 1996
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searchingS Banfi, G Borsani, E Rossi, et al.
Human Genetics|January 1, 1982
Duplication of the short arm of chromosome 9. Analysis of five casesC Cuoco, G Gimelli, F Pasquali, et al.
Genomics|February 28, 1998
Human NRD convertase: a highly conserved metalloendopeptidase expressed at specific sites during development and in adult tissuesP Fumagalli, M Accarino, A Egeo, et al.
Genomics|September 2, 1998
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domainsL de Conciliis, A Marchitiello, M C Wapenaar, et al.
Cytogenetic and Genome Research|May 9, 2013
Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangementE Manolakos, A Vetro, E Papadopoulou, et al.
Pageof 16

Showing results (121-130 of 159) with videos related to

Sort By:
Pageof 16
Clinical Genetics|October 19, 2007
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndromeI Wieland, C Weidner, R Ciccone, et al.
Neuroscience|July 18, 2008
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformationsF Gianfrancesco, T Esposito, S Penco, et al.
Neurology|August 23, 2006
Periventricular heterotopia in fragile X syndromeF Moro, T Pisano, B Dalla Bernardina, et al.
American Journal of Human Genetics|April 29, 1998
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterilityS Bione, C Sala, C Manzini, et al.
Clinical Genetics|January 23, 2010
Eyebrow anomalies as a diagnostic sign of genomic disordersM Silengo, E Belligni, C Molinatto, et al.
Nature Genetics|June 1, 1996
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searchingS Banfi, G Borsani, E Rossi, et al.
Human Genetics|January 1, 1982
Duplication of the short arm of chromosome 9. Analysis of five casesC Cuoco, G Gimelli, F Pasquali, et al.
Genomics|February 28, 1998
Human NRD convertase: a highly conserved metalloendopeptidase expressed at specific sites during development and in adult tissuesP Fumagalli, M Accarino, A Egeo, et al.
Genomics|September 2, 1998
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domainsL de Conciliis, A Marchitiello, M C Wapenaar, et al.
Cytogenetic and Genome Research|May 9, 2013
Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangementE Manolakos, A Vetro, E Papadopoulou, et al.
Pageof 16