Hasil Pencarian - Hongzheng Dai

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  1. 1
    Highly tissue specific expression of Sphinx supports its male courtship related role in Drosophila melanogaster.

    Highly tissue specific expression of Sphinx supports its male courtship related role in Drosophila melanogaster. oleh Ying Chen, Hongzheng Dai, Sidi Chen, Luoying Zhang, Manyuan Long

    Diterbitkan 2011-04-01
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  2. 2
    P668: PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease

    P668: PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease oleh Katharina Schulze, Matthew Hoi Kin Chau, Hongzheng Dai, Elizabeth Mizerik, Keren Machol, Nichole Owen

    Diterbitkan 2024-01-01
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  3. 3
    P170: Rapid genome provides unexpected, highly actionable answer for critically ill patient

    P170: Rapid genome provides unexpected, highly actionable answer for critically ill patient oleh Gabrielle Geddes, Brett Graham, Riad Lutfi, Sarah Ackah, Hongzheng Dai, Gregory Montgomery, Kyle Jackson

    Diterbitkan 2023-01-01
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  4. 4
    P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome

    P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome oleh Liesbeth Vossaert, Nichole Owen, Hongzheng Dai, Eric Kao, Xiaonan Zhao, Seema Lalani, Monika Weisz-Hubshman, Lorraine Potocki, Elizabeth Mizerik

    Diterbitkan 2024-01-01
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  5. 5
    P050: Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure

    P050: Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure oleh Vittoria Rossi, Dan Brooks, Hongzheng Dai, Elizabeth Mizerik, Yishay Ben-Moshe, Seema Lalani, Daryl Scott, Fernando Scaglia, Keren Machol, Mir Reza Bekheirnia

    Diterbitkan 2024-01-01
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  6. 6
    P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders

    P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders oleh Amir Hossein Saeidian, Liesbeth Vossaert, Elizabeth Mizerik, Wilson CW. Wu, Hongzheng Dai, Nichole Owen, Janice Smith, Linyan Meng, Christine Eng, Fan Xia, Weimin Bi, Xiaonan Zhao

    Diterbitkan 2024-01-01
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  7. 7
    OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

    OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation oleh Ken Saida, Tokiko Fukuda, Daryl A. Scott, Daryl A. Scott, Daryl A. Scott, Toru Sengoku, Kazuhiro Ogata, Annarita Nicosia, Annarita Nicosia, Andres Hernandez-Garcia, Seema R. Lalani, Seema R. Lalani, Mahshid S. Azamian, Haley Streff, Haley Streff, Pengfei Liu, Pengfei Liu, Hongzheng Dai, Hongzheng Dai, Takeshi Mizuguchi, Satoko Miyatake, Miki Asahina, Tsutomu Ogata, Noriko Miyake, Naomichi Matsumoto

    Diterbitkan 2021-03-01
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  8. 8
    KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine

    KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine oleh Peter Müller, Danielle S. Takacs, Ulrike B. S. Hedrich, Rohini Coorg, Laura Masters, Kevin E. Glinton, Hongzheng Dai, Jon A. Cokley, James J. Riviello, Holger Lerche, Edward C. Cooper

    Diterbitkan 2023-04-01
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  9. 9
    Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients

    Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients oleh Lei Wang, Pengfei Liu, Weimin Bi, Teresa Sim, Xia Wang, Magdalene Walkiewicz, Magalie Sophie Leduc, Linyan Meng, Fan Xia, Christine M. Eng, Yaping Yang, Bo Yuan, Hongzheng Dai

    Diterbitkan 2021-11-01
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  10. 10
    P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders

    P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders oleh Kristina Macakova, Jefferson Sinson, Sen Zhao, Hongzheng Dai, Jill Rosenfeld, Gladys Zapata, Shenglan Li, Patricia Ward, Christiana Wang, Chunjing Qu, Becky Maywald, Undiagnosed Disease Network, Brendan Lee, Christine Eng, Pengfei Liu

    Diterbitkan 2024-01-01
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  11. 11
    P722: Low-level large deletions in mitochondria genomes: A potential diagnosis of mitochondrial diseases

    P722: Low-level large deletions in mitochondria genomes: A potential diagnosis of mitochondrial diseases oleh Jun Yang, Tiansheng Chen, Eric Kao, Jie Dong, John Lattier, Hongzheng Dai, Linyan Meng, Fan Xia, Eric Schmitt, Sandra Peacock, William Craigen, Robert Rigobello, Lee-Jun Wong, Christine Eng, Yue Wang

    Diterbitkan 2024-01-01
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  12. 12
    P374: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using a telehealth platform

    P374: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using a telehealth platform oleh Dan Brooks, Blake Vuocolo, Roberta Sierra, Christopher Holder, Lauren Urbanski, Lori Berry, Segundo Lizardo-Guzman, Ana Hernandez, Jose Gamez Godoy, Surya Mulukutla, Hongzheng Dai, Brendan Lee, Claudia Soler-Alfonso, Kent Carter, Seema Lalani

    Diterbitkan 2023-01-01
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  13. 13
    Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes

    Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes oleh Seyoung Yu, Yo Jun Choi, John Hoon Rim, Hye-Youn Kim, Nasim Bekheirnia, Sarah Jane Swartz, Hongzheng Dai, Shen Linda Gu, Soyeon Lee, Ryuichi Nishinakamura, Friedhelm Hildebrandt, Mir Reza Bekheirnia, Mir Reza Bekheirnia, Heon Yung Gee

    Diterbitkan 2023-03-01
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  14. 14
    Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)

    Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS) oleh Shan Chen, Mahim Jain, Shalini Jhangiani, Zeynep C Akdemir, Philippe M Campeau, Robert F Klein, Carrie Nielson, Hongzheng Dai, Donna M Muzny, Eric Boerwinkle, Richard A Gibbs, Eric S Orwoll, James R Lupski, Jennifer E Posey, Brendan Lee

    Diterbitkan 2020-03-01
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  15. 15
    Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

    Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits oleh Bo Yuan, Katharina V. Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P. Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R. Lupski, Pengfei Liu

    Diterbitkan 2022-09-01
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  16. 16
    Two Novel Pathogenic Variants of TJP2 Gene and the Underlying Molecular Mechanisms in Progressive Familial Intrahepatic Cholestasis Type 4 Patients

    Two Novel Pathogenic Variants of TJP2 Gene and the Underlying Molecular Mechanisms in Progressive Familial Intrahepatic Cholestasis Type 4 Patients oleh Jia Tang, Jia Tang, Jia Tang, Jia Tang, Meihua Tan, Meihua Tan, Yihui Deng, Hui Tang, Haihong Shi, Mingzhen Li, Wei Ma, Jia Li, Hongzheng Dai, Jianli Li, Shengmei Zhou, Xu Li, Fengxiang Wei, Xiaofen Ma, Liangping Luo

    Diterbitkan 2021-08-01
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  17. 17
    P513: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using an EHR-agnostic tele-engagement platform

    P513: Project GIVE: Expanding genetic testing to underserved areas in the Rio Grande Valley using an EHR-agnostic tele-engagement platform oleh Blake Vuocolo, Roberta Sierra, Dan Brooks, Kent Carter, Keila Rodriguez, Lori Berry, Ana Hernandez, Christopher Holder, Lauren Urbanski, Jose Gamez Godoy, Surya Mulukutla, Segundo Lizardo-Guzman, Humberto Hidalgo, Alberto Allegre, Sandy Magallan, Sarah Rodriguez, Claudia Soler-Alfonso, Hongzheng Dai, Brendan Lee, Seema Lalani

    Diterbitkan 2024-01-01
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  18. 18
    Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas

    Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas oleh Blake Vuocolo, Roberta Sierra, Daniel Brooks, Christopher Holder, Lauren Urbanski, Keila Rodriguez, Jose David Gamez, Surya Narayan Mulukutla, Ana Hernandez, Alberto Allegre, Humberto Hidalgo, Sarah Rodriguez, Sandy Magallan, Jeremy Gibson, Juan Carlos Bernini, Melanie Watson, Robert Nelson, Lizbeth Mellin-Sanchez, Nancy Garcia, Lori Berry, Hongzheng Dai, Claudia Soler-Alfonso, Kent Carter, Brendan Lee, Seema R. Lalani

    Diterbitkan 2024-09-01
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  19. 19
    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder oleh Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E. Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang

    Diterbitkan 2018-09-01
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  20. 20
    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases oleh Avinash V. Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E. Posey, Allen H. Jiang, Weimin He, Francesco Vetrini, Alicia A. Braxton, Patricia Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A. Shaw, Janice L. Smith, Seema Lalani, Pawel Stankiewicz, Sau-Wai Cheung, Carlos A. Bacino, Ankita Patel, Amy M. Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna Muzny, Richard A. Gibbs, Arthur L. Beaudet, Christine M. Eng, James R. Lupski, Yaping Yang, Weimin Bi

    Diterbitkan 2019-05-01
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