检索结果 - Jobanputra, Vaidehi

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

获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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 由 Jobanputra, Vaidehi, Chung, Wendy K., Hacker, April M., Emanuel, Beverly S., Warburton, Dorothy

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

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

获取全文 获取全文 获取全文

Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders 由 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

获取全文 获取全文 获取全文

Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms 由 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

获取全文 获取全文 获取全文

Clinical utility of genomic sequencing: a measurement toolkit 由 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

获取全文 获取全文 获取全文

Urinary naphthol metabolites and chromosomal aberrations in 5 yr old children 由 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.

获取全文 获取全文 获取全文