Výsledky vyhledávání - Bejjani, Bassem A

Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics Autor Bejjani, Bassem A., Shaffer, Lisa G.

Získat plný text Získat plný text Získat plný text

Targeted Array CGH Autor Bejjani, Bassem A., Shaffer, Lisa G.

Získat plný text

COVID‐19 and the adaptive evolution of genetic counseling Autor Hassel, Nathan C., Gilbert, Adel D., Bejjani, Bassem A.

Získat plný text Získat plný text Získat plný text

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2) Autor Lalani, Seema R, Sahoo, Trilochan, Sanders, Merideth E, Peters, Sarika U, Bejjani, Bassem A

Získat plný text Získat plný text Získat plný text

Effects of Ozone Exposure during Microarray Posthybridization Washes and Scanning Autor Byerly, Steve, Sundin, Kyle, Raja, Rajiv, Stanchfield, Jim, Bejjani, Bassem A., Shaffer, Lisa G.

Získat plný text Získat plný text Získat plný text

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH Autor Neill, Nicholas J, Torchia, Beth S, Bejjani, Bassem A, Shaffer, Lisa G, Ballif, Blake C

Získat plný text Získat plný text Získat plný text

Human anterior chamber angle development without cell death or macrophage involvement Autor Meghpara, Beeran, Li, Xin, Nakamura, Hiroshi, Khan, Ahsan, Bejjani, Bassem A., Lin, Shan, Edward, Deepak P.

Získat plný text Získat plný text

Refinement of the Genomic Structure of STX1A and Mutation Analysis in Nondeletion Williams Syndrome Patients Autor Wu, Yuan-Qing, Bejjani, Bassem A., Tsui, Lap-Chee, Mandel, Ariane, Osborne, Lucy R., Shaffer, Lisa G.

Získat plný text Získat plný text Získat plný text

Design, Development, Validation, and Use of Synthetic Nucleic Acid Controls for Diagnostic Purposes and Application to Cystic Fibrosis Testing Autor Christensen, Todd M., Jama, Mohamed, Ponek, Victor, Lyon, Elaine, Wilson, Jean Amos, Hoffmann, Marcy L., Bejjani, Bassem A.

Získat plný text Získat plný text Získat plný text

Genomic Duplication of PTPN11 is an Uncommon Cause of Noonan Syndrome Autor Graham, John M., Kramer, Nancy, Bejjani, Bassem A., Thiel, Christian T., Carta, Claudio, Neri, Giovanni, Tartaglia, Marco, Zenker, Martin

Získat plný text Získat plný text Získat plný text

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 developmenta... Autor Haj, Roland, Jackson, Kelly, Torchia, Beth A, Shaffer, Lisa G, Bejjani, Bassem A, Gowans, Gordon C, Ruff, Michael E

Získat plný text Získat plný text Získat plný text

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications Autor Rosenfeld, Jill A., Coppinger, Justine, Bejjani, Bassem A., Girirajan, Santhosh, Eichler, Evan E., Shaffer, Lisa G., Ballif, Blake C.

Získat plný text Získat plný text Získat plný text

Analiza zmian dna oka w rodzinach obciążonych wysoką krótkowzrocznością Autor Frajdenberg, Agata, Pecold, Krystyna, Podfigurna-Musielak, Monika, Rydzanicz, Małgorzata, Mrugacz, Małgorzata, Leal, Suzanne M., Bejjani, Bassem A., Gajęcka, Marzena

Získat plný text Získat plný text

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus Autor Karolak, Justyna A., Kulinska, Karolina, Nowak, Dorota M., Pitarque, Jose A., Molinari, Andrea, Rydzanicz, Malgorzata, Bejjani, Bassem A., Gajecka, Marzena

Získat plný text Získat plný text

Identification of novel suggestive loci for high-grade myopia in Polish families Autor Rydzanicz, Malgorzata, Nath, Swapan K., Sun, Celi, Podfigurna-Musielak, Monika, Frajdenberg, Agata, Mrugacz, Malgorzata, Winters, Daniel, Ratnamala, Uppala, Radhakrishna, Uppala, Bejjani, Bassem A., Gajecka, Marzena

Získat plný text Získat plný text

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate Autor Sahoo, Trilochan, Theisen, Aaron, Sanchez-Lara, Pedro A., Marble, Michael, Schweitzer, Daniela N., Torchia, Beth S., Lamb, Allen N., Bejjani, Bassem A., Shaffer, Lisa G., Lacassie, Yves

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32 Autor Gajecka, Marzena, Radhakrishna, Uppala, Winters, Daniel, Nath, Swapan K., Rydzanicz, Malgorzata, Ratnamala, Uppala, Ewing, Kimberly, Molinari, Andrea, Pitarque, Jose A., Lee, Kwanghyuk, Leal, Suzanne M., Bejjani, Bassem A.

Získat plný text Získat plný text Získat plný text

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome Autor Duker, Angela L, Ballif, Blake C, Bawle, Erawati V, Person, Richard E, Mahadevan, Sangeetha, Alliman, Sarah, Thompson, Regina, Traylor, Ryan, Bejjani, Bassem A, Shaffer, Lisa G, Rosenfeld, Jill A, Lamb, Allen N, Sahoo, Trilochan

Získat plný text Získat plný text Získat plný text

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication Autor Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G

Získat plný text Získat plný text Získat plný text