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Bassem A Bejjani

Showing results (31-40 of 71) with videos related to

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Prenatal Diagnosis|February 24, 2006
Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridizationBlake C Ballif, Catherine D Kashork, Reza Saleki, et al.
Klinika Oczna|August 30, 2007
[An analysis of the fundus changes in families with high myopia]Agata Frajdenberg, Krystyna Pecold, Monika Podfigurna-Musielak, et al.
Molecular Cytogenetics|January 9, 2009
Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case reportRoland Haj, Kelly Jackson, Beth A Torchia, et al.
Journal of Neurodevelopmental Disorders|July 7, 2011
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplicationsJill A Rosenfeld, Justine Coppinger, Bassem A Bejjani, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Genomic duplication of PTPN11 is an uncommon cause of Noonan syndromeJohn M Graham, Nancy Kramer, Bassem A Bejjani, et al.
American Journal of Medical Genetics. Part A|July 17, 2007
The clinical utility of enhanced subtelomeric coverage in array CGHBlake C Ballif, Scott G Sulpizio, Richard M Lloyd, et al.
Molecular Vision|April 30, 2011
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconusJustyna A Karolak, Karolina Kulinska, Dorota M Nowak, et al.
Investigative Ophthalmology & Visual Science|March 7, 2013
Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconusDorota M Nowak, Justyna A Karolak, Joanna Kubiak, et al.
American Journal of Medical Genetics. Part A|February 22, 2005
Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?Bassem A Bejjani, Reza Saleki, Blake C Ballif, et al.
Human Genetics|January 13, 2010
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPEJill A Rosenfeld, Blake C Ballif, Donna M Martin, et al.
Pageof 8

Showing results (31-40 of 71) with videos related to

Sort By:
Pageof 8
Prenatal Diagnosis|February 24, 2006
Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridizationBlake C Ballif, Catherine D Kashork, Reza Saleki, et al.
Klinika Oczna|August 30, 2007
[An analysis of the fundus changes in families with high myopia]Agata Frajdenberg, Krystyna Pecold, Monika Podfigurna-Musielak, et al.
Molecular Cytogenetics|January 9, 2009
Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case reportRoland Haj, Kelly Jackson, Beth A Torchia, et al.
Journal of Neurodevelopmental Disorders|July 7, 2011
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplicationsJill A Rosenfeld, Justine Coppinger, Bassem A Bejjani, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Genomic duplication of PTPN11 is an uncommon cause of Noonan syndromeJohn M Graham, Nancy Kramer, Bassem A Bejjani, et al.
American Journal of Medical Genetics. Part A|July 17, 2007
The clinical utility of enhanced subtelomeric coverage in array CGHBlake C Ballif, Scott G Sulpizio, Richard M Lloyd, et al.
Molecular Vision|April 30, 2011
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconusJustyna A Karolak, Karolina Kulinska, Dorota M Nowak, et al.
Investigative Ophthalmology & Visual Science|March 7, 2013
Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconusDorota M Nowak, Justyna A Karolak, Joanna Kubiak, et al.
American Journal of Medical Genetics. Part A|February 22, 2005
Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?Bassem A Bejjani, Reza Saleki, Blake C Ballif, et al.
Human Genetics|January 13, 2010
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPEJill A Rosenfeld, Blake C Ballif, Donna M Martin, et al.
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