Bassem Bejjani: search on Z-Library

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51

Substitution at IL1RN and Deletion at SLC4A11 Segregating with Phenotype in Familial Keratoconus

Nowak, Dorota M., Karolak, Justyna A., Kubiak, Joanna, Gut, Marta, Pitarque, Jose A., Molinari, Andrea, Bejjani, Bassem A., Gajecka, Marzena

Journal:

Investigative Ophthalmology & Visual Science

Year:

2013

Language:

english

File:

PDF, 320 KB

english, 2013

52

Of Mice and Men: Tyrosinase Modification of Congenital Glaucoma in Mice but Not in Humans

Bidinost, Carla, Hernandez, Natalie, Edward, Deepak P., Al-Rajhi, Ali, Lewis, Richard Alan, Lupski, James R., Stockton, David W., Bejjani, Bassem A.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

53

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

Shaffer, Lisa G, Theisen, Aaron, Bejjani, Bassem A, Ballif, Blake C, Aylsworth, Arthur S, Lim, Cynthia, McDonald, Marie, Ellison, Jay W, Kostiner, Dana, Saitta, Sulagna, Shaikh, Tamim

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 1.64 MB

english, 2007

54

A Comprehensive Update on Congenital Glaucoma

Edward, Deepak, Vajaranant, Thasarat, Al-Shahwan, Sami, Bejjani, Bassem

Journal:

Current Pediatric Reviews

Year:

2008

Language:

english

File:

PDF, 259 KB

english, 2008

55

Molecular basis of Peters anomaly in Saudi Arabia

Edward, Deepak, Rajhi, Ali Al, Lewis, Richard Alan, Curry, Stacey, Wang, Zongren, Bejjani, Bassem

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 243 KB

english, 2004

56

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus

Czugala, Marta, Karolak, Justyna A, Nowak, Dorota M, Polakowski, Piotr, Pitarque, Jose, Molinari, Andrea, Rydzanicz, Malgorzata, Bejjani, Bassem A, Yue, Beatrice Y J T, Szaflik, Jacek P, Gajecka, Marz

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 493 KB

english, 2012

57

In the middle of it all: a centered approach to chromosome analysis

Shaffer, Lisa G, Ballif, Blake C, Theisen, Aaron, Rorem, Emily, Bejjani, Bassem A, Torchia, Beth A

Journal:

Expert Opinion on Medical Diagnostics

Year:

2008

Language:

english

File:

PDF, 1.05 MB

english, 2008

58

Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH

Ballif, Blake C, Hornor, Sara A, Sulpizio, Scott G, Lloyd, Richard M, Minier, Sara L, Rorem, Emily A, Theisen, Aaron, Bejjani, Bassem A, Shaffer, Lisa G

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 2.91 MB

english, 2007

59

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH

Adams, Sara Anne, Coppinger, Justine, Saitta, Sulagna C, Stroud, Tracy, Kandamurugu, Manikum, Fan, Zheng, Ballif, Blake C, Shaffer, Lisa G, Bejjani, Bassem A

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 690 KB

english, 2009

60

Comparison of Microarray-Based Detection Rates for Cytogenetic Abnormalities in Prenatal and Neonatal Specimens

Shaffer, Lisa G., Coppinger, Justine, Alliman, Sarah, Torchia, Beth A., Theisen, Aaron, Ballif, Blake C., Bejjani, Bassem A.

Journal:

Obstetric and Gynecologic Survey

Year:

2008

Language:

english

File:

PDF, 564 KB

english, 2008

61

A Gene for Primary Congenital Glaucoma Is Not Linked to the Locus on Chromosome lq for Autosomal Dominant Juvenile-Onset Open Angle Glaucoma

Anderson, Kent L., Lewis, Richard Alan, Bejjani, Bassem A., BAIRD, LISA, Otterud, Brith, Tomey, RKarim F., ASTLE, WILLIAM F., Dueker, David K., LEPPERT, MARK, Lupski, James R.

Journal:

Journal of Glaucoma

Year:

1996

File:

PDF, 506 KB

1996

62

Greig Cephalopolysyndactyly Syndrome

Timor-Tritsch, Ilan E., Kapp, Sarah, Berg, Robert, Bejjani, Bassem A., Adams, Sara Anne, Monteagudo, Ana, Divon, Michael, Pappas, John G.

Journal:

Journal of Ultrasound in Medicine

Year:

2009

Language:

english

File:

PDF, 460 KB

english, 2009

63

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family

Karolak, Justyna A., Rydzanicz, Malgorzata, Ginter-Matuszewska, Barbara, Pitarque, Jose A., Molinari, Andrea, Bejjani, Bassem A., Gajecka, Marzena

Journal:

Investigative Opthalmology & Visual Science

Year:

2015

Language:

english

File:

PDF, 319 KB

english, 2015

64

Evaluation of an automated process for disclosure of negative noninvasive prenatal test results

Kalejta, Cassidi D., Higgins, Sonja, Kershberg, Hilary, Greenberg, Jeff, Alvarado, Monica, Cooke, Kerry, Bhatt, Sucheta, Bulpitt, Denise, Armour, Jamie, Bejjani, Bassem, Ryan, Shawnia, Elms, Amanda

Journal:

Journal of Genetic Counseling

Year:

2019

Language:

english

File:

PDF, 844 KB

english, 2019

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