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Orsetta Zuffardi

Showing results (121-130 of 222) with videos related to

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Journal of Human Genetics|September 7, 2006
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndromeMilena Cau, Maria Addis, Rita Congiu, et al.
Molecular Genetics & Genomic Medicine|December 20, 2018
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?Nehir Edibe Kurtas, Luciano Xumerle, Ursula Giussani, et al.
European Journal of Medical Genetics|June 27, 2007
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHDFortunato Lonardo, Giancarlo Parenti, Daniela Varela Luquetti, et al.
Frontiers in Genome Editing|April 25, 2022
Seamless Gene Correction in the Human Cystic Fibrosis Transmembrane Conductance Regulator Locus by Vector Replacement and Vector Insertion EventsShingo Suzuki, Keisuke Chosa, Cristina Barillà, et al.
European Journal of Human Genetics : EJHG|October 16, 2008
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversionMaria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.
International Journal of Pediatric Endocrinology|January 16, 2020
A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date reviewFrancesca Parissone, Mairi Pucci, Emanuela Meneghelli, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardationEmmanouil Manolakos, Annalisa Vetro, Konstantinos Kefalas, et al.
Human Mutation|March 22, 2007
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocationRenata Bocciardi, Roberto Giorda, Jens Buttgereit, et al.
European Journal of Human Genetics : EJHG|March 2, 2012
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadiasSimone Gana, Pierangelo Veggiotti, Giusy Sciacca, et al.
Molecular Medicine Reports|October 18, 2017
Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridizationZoe Papadopoulou, Ioannis Papoulidis, Stavros Sifakis, et al.
Pageof 23

Showing results (121-130 of 222) with videos related to

Sort By:
Pageof 23
Journal of Human Genetics|September 7, 2006
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndromeMilena Cau, Maria Addis, Rita Congiu, et al.
Molecular Genetics & Genomic Medicine|December 20, 2018
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?Nehir Edibe Kurtas, Luciano Xumerle, Ursula Giussani, et al.
European Journal of Medical Genetics|June 27, 2007
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHDFortunato Lonardo, Giancarlo Parenti, Daniela Varela Luquetti, et al.
Frontiers in Genome Editing|April 25, 2022
Seamless Gene Correction in the Human Cystic Fibrosis Transmembrane Conductance Regulator Locus by Vector Replacement and Vector Insertion EventsShingo Suzuki, Keisuke Chosa, Cristina Barillà, et al.
European Journal of Human Genetics : EJHG|October 16, 2008
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversionMaria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.
International Journal of Pediatric Endocrinology|January 16, 2020
A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date reviewFrancesca Parissone, Mairi Pucci, Emanuela Meneghelli, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardationEmmanouil Manolakos, Annalisa Vetro, Konstantinos Kefalas, et al.
Human Mutation|March 22, 2007
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocationRenata Bocciardi, Roberto Giorda, Jens Buttgereit, et al.
European Journal of Human Genetics : EJHG|March 2, 2012
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadiasSimone Gana, Pierangelo Veggiotti, Giusy Sciacca, et al.
Molecular Medicine Reports|October 18, 2017
Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridizationZoe Papadopoulou, Ioannis Papoulidis, Stavros Sifakis, et al.
Pageof 23