Hasil Pencarian - Haley Streff

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  1. 1
    P211: Review of genomic test orders for pediatric inpatients receiving exome and genome sequencing

    P211: Review of genomic test orders for pediatric inpatients receiving exome and genome sequencing oleh Haley Streff, Lisa Saba, Dolores Lopez-Terrada, Jennifer Scull

    Diterbitkan 2024-01-01
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  2. 2
    P564: Genetic test stewardship for clinical exome sequencing: Review of critical care orders at Texas Children’s Hospital

    P564: Genetic test stewardship for clinical exome sequencing: Review of critical care orders at Texas Children’s Hospital oleh Haley Streff, Lisa Saba, Runjun Kumar, Dolores Lopez-Terrada, Jennifer Scull

    Diterbitkan 2023-01-01
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  3. 3
    P130: Case report: Phenotypic features among four first-degree relatives with 17q11.2 microduplication syndrome

    P130: Case report: Phenotypic features among four first-degree relatives with 17q11.2 microduplication syndrome oleh Catherine Bradley, Haley Streff, Weimin Bi, Janice Smith, Jill Rosenfeld, Ronit Marom

    Diterbitkan 2023-01-01
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  4. 4
    Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders

    Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders oleh Joseph J. Rossi, Jill A. Rosenfeld, Katie M. Chan, Haley Streff, Victoria Nankivell, Daniel J. Peet, Murray L. Whitelaw, David C. Bersten

    Diterbitkan 2021-03-01
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  5. 5
    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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  6. 6
    Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

    Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity oleh Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Hélène Vitet, Chantal Weber, Carlos A. Bacino, Kristin Baranaño, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A. Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley Streff, Christel Thauvin-Robinet, Marjan M. Weiss, Gladys Zapata, Petra J. G. Zwijnenburg, Frédéric Saudou, Christel Depienne, Christelle Golzio, Delphine Héron, Juliette D. Godin

    Diterbitkan 2020-05-01
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  7. 7
    FOXI3 pathogenic variants cause one form of craniofacial microsomia

    FOXI3 pathogenic variants cause one form of craniofacial microsomia oleh Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E. Antonarakis

    Diterbitkan 2023-04-01
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