Výsledky vyhledávání - Jobanputra, Vaidehi

Molecular genetics of schizophrenia: a critical review Autor Berry, Neeraj, Jobanputra, Vaidehi, Pal, Hemraj

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Expanding the phenotype of ATP6AP1 deficiency Autor Barua, Subit, Berger, Sara, Pereira, Elaine M., Jobanputra, Vaidehi

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DISTINCT PROPERTIES OF CYCLIN DEPENDENT KINASES COMPLEXES CONTAINING CYCLIN A1 AND CYCLIN A2 Autor Joshi, Ayesha R., Jobanputra, Vaidehi, Lele, Karen M., Wolgemuth, Debra J.

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A unique case of der(11)t(11;22),−22 arising from 3 : 1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer Autor Jobanputra, Vaidehi, Chung, Wendy K., Hacker, April M., Emanuel, Beverly S., Warburton, Dorothy

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Using FISH to increase the yield and accuracy of karyotypes from spontaneous abortion specimens Autor Jobanputra, Vaidehi, Esteves, Cecilia, Sobrino, Antonio, Brown, Stephen, Kline, Jennie, Warburton, Dorothy

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Phenotypic Expansion and Progression of SPATA7-associated Retinitis Pigmentosa Autor Sengillo, Jesse D., Lee, Winston, Bilancia, Colleen G., Jobanputra, Vaidehi, Tsang, Stephen H.

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3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities Autor Barua, Subit, Pereira, Elaine M., Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Levy, Brynn, Liao, Jun

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Indolent Small Intestinal CD4+ T-cell Lymphoma Is a Distinct Entity with Unique Biologic and Clinical Features Autor Margolskee, Elizabeth, Jobanputra, Vaidehi, Lewis, Suzanne K., Alobeid, Bachir, Green, Peter H. R., Bhagat, Govind

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Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase Autor Sparling, David P., Fabian, Kendra, Harik, Lara, Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Oberfield, Sharon E., Fennoy, Ilene

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Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency Autor Abhyankar, Avinash, Lamendola‐Essel, Michelle, Brennan, Kelly, Giordano, Jessica L., Esteves, Cecilia, Felice, Vanessa, Wapner, Ronald, Jobanputra, Vaidehi

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Duplication of the ZIC2 gene is not associated with holoprosencephaly Autor Jobanputra, Vaidehi, Burke, Alanna, Kwame, Anyane-Yeboa, Shanmugham, Anita, Shirazi, Maryam, Brown, Stephen, Warburton, Peter E., Levy, Brynn, Warburton, Dorothy

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Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies Autor Jobanputra, Vaidehi, Andrews, Peter, Felice, Vanessa, Abhyankar, Avinash, Kozon, Lukasz, Robinson, Dino, London, Ferrah, Hakker, Inessa, Wrzeszczynski, Kazimierz, Ronemus, Michael

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Prenatal PAH Exposure is Associated with Chromosome-specific Aberrations in Cord Blood Autor Orjuela, Manuela A., Liu, XinHua, Warburton, Dorothy, Siebert, Aisha L., Cujar, Claudia, Tang, DeLiang, Jobanputra, Vaidehi, Perera, Frederica P.

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Whole-exome sequencing detects PYGM variants in two adults with McArdle disease Autor Thomas-Wilson, Amanda, Dharmadhikari, Avinash V., Heymann, Jonas J., Jobanputra, Vaidehi, DiMauro, Salvatore, Hirano, Michio, Naini, Ali B., Ganapathi, Mythily

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Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl Autor Dharmadhikari, Avinash V., Pereira, Elaine M., Andrews, Carli C ., Macera, Michael, Harkavy, Nina, Wapner, Ronald, Jobanputra, Vaidehi, Levy, Brynn, Ganapathi, Mythily, Liao, Jun

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The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic Autor Marshall, Christian R., Bick, David, Belmont, John W., Taylor, Stacie L., Ashley, Euan, Dimmock, David, Jobanputra, Vaidehi, Kearney, Hutton M., Kulkarni, Shashikant, Rehm, Heidi

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Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders Autor Margolskee, Elizabeth, Jobanputra, Vaidehi, Jain, Preti, Chen, Jinli, Ganapathi, Karthik, Nahum, Odelia, Levy, Brynn, Morscio, Julie, Murty, Vundavalli, Tousseyn, Thomas, Alobeid, Bachir, Mansukhani, Mahesh, Bhagat, Govind

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Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms Autor Arora, Kanika, Shah, Minita, Johnson, Molly, Sanghvi, Rashesh, Shelton, Jennifer, Nagulapalli, Kshithija, Oschwald, Dayna M., Zody, Michael C., Germer, Soren, Jobanputra, Vaidehi, Carter, Jade, Robine, Nicolas

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Clinical utility of genomic sequencing: a measurement toolkit Autor Hayeems, Robin Z., Dimmock, David, Bick, David, Belmont, John W., Green, Robert C., Lanpher, Brendan, Jobanputra, Vaidehi, Mendoza, Roberto, Kulkarni, Shashi, Grove, Megan E., Taylor, Stacie L., Ashley, Euan

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Urinary naphthol metabolites and chromosomal aberrations in 5 yr old children Autor Orjuela, Manuela A., Liu, XinHua, Miller, Rachel L., Warburton, Dorothy, Tang, DeLiang, Jobanputra, Vaidehi, Hoepner, Lori, Suen, Ida Hui, Diaz-Carreno, Silvia, Li, Zheng, Sjodin, Andreas, Perera, Frederica P.

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