Resultados da pesquisa - Lim Jiin Ying

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  1. 1
    AB151. CHD7 variants identified by next-generation sequencing

    AB151. CHD7 variants identified by next-generation sequencing Por Lee, Siew Peng, Brett, Maggie, Lim, Eileen, Lai, Angeline, Tan, Ee Shien, Lim, Jiin Ying, Cham, Breana, Tan, Ene Choo

    Publicado em 2015
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  2. 2
    AB097. Clinical and molecular characterization of patients with 6p25 deletion syndrome

    AB097. Clinical and molecular characterization of patients with 6p25 deletion syndrome Por Lim, Jiin Ying, Jamuar, Saumya Shekhar, Cham, Breana Wen Min, Brett, Maggie, Tan, Ee Shien, Ng, Ivy, Law, Hai Yang, Tan, Ene Choo, Lai, Angeline Hwei Meeng

    Publicado em 2015
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  3. 3
    Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

    Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine? Por Jamuar, Saumya Shekhar, Kuan, Jyn Ling, Brett, Maggie, Tiang, Zenia, Tan, Wilson Lek Wen, Lim, Jiin Ying, Liew, Wendy Kein Meng, Javed, Asif, Liew, Woei Kang, Law, Hai Yang, Tan, Ee Shien, Lai, Angeline, Ng, Ivy, Teo, Yik Ying, Venkatesh, Byrappa, Reversade, Bruno, Tan, Ene Choo, Foo, Roger

    Publicado em 2016
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  4. 4
    A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

    A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features Por Shao, Diane D., Straussberg, Rachel, Ahmed, Hind, Khan, Amjad, Tian, Songhai, Hill, R. Sean, Smith, Richard S., Majmundar, Amar J., Ameziane, Najim, Neil, Jennifer E., Yang, Edward, Al Tenaiji, Amal, Jamuar, Saumya S., Schlaeger, Thorsten M., Al-Saffar, Muna, Hovel, Iris, Al-Shamsi, Aisha, Basel-Salmon, Lina, Amir, Achiya Z., Rento, Lariza M., Lim, Jiin Ying, Ganesan, Indra, Shril, Shirlee, Evrony, Gilad, Barkovich, A. James, Bauer, Peter, Hildebrandt, Friedhelm, Dong, Min, Borck, Guntram, Beetz, Christian, Al-Gazali, Lihadh, Eyaid, Wafaa, Walsh, Christopher A.

    Publicado em 2021
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  5. 5
    KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

    KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis Por Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Frédéric Tran Mau‐Them, Eglė Preikšaitienė, Glen R. Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaitytė, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim Jiin Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M. van Hasselt, Michael R. Wiederkehr, Caroline F. Wright, Ioannis Xénarios, Gijs van Haaften, Charles Shaw‐Smith, Erica Schindewolf, Marguerite Neerman‐Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S. Alkuraya, Alexandre Reymond

    Publicado em 2017
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  6. 6
    ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

    ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs Por Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Héla Azaiez, Kevin T. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret A. Kenna, Lisa A. Schimmenti, Mustafa Tekin, Heidi L. Rehm, Ahmad Abou Tayoun, Sami S. Amr, Sonia Abdelhak, John Alexander, Karen B. Avraham, Neha Bhatia, Donglin Bai, Nicole J. Boczek, Zippora Brownstein, Rachel Burt, Yasmin Bylstra, Ignacio del Castillo, Byung Yoon Choi, Lilian Downie, Thomas B. Friedman, Anne B.S. Giersch, Jasmine Goh, John H. Greinwald, Andrew J. Griffith, Amy Hernandez, Jeffrey T. Holt, Makoto Hosoya, Lim Jiin Ying, Kanika Jain, Un‐Kyung Kim, Hannie Kremer, Ian D. Krantz, Suzanne M. Leal, Morag A. Lewis, Xue Zhong Liu, Wendy Low, Yu Lu, Minjie Luo, Saber Masmoudi, Tan Ming, Miguel A. Moreno‐Pelayo, Matías Morin, Cynthia C. Morton, Jaclyn Murray, Hideki Mutai, Kiyomitsu Nara, Arti Pandya, Sylvia Kam Pei-Rong, Richard J. Smith, Lynette Pei‐Chi Shek, Funda Suer, Shin‐ichi Usami, Guy Van Camp, Kazuki Yamazawa, Huijun Yuan, Elizabeth Black-Zeigelbein, Keijan Zhang

    Publicado em 2019
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  7. 7
    Williams-Beuren Syndrome in Diverse Populations

    Williams-Beuren Syndrome in Diverse Populations Por Kruszka, Paul, Porras, Antonio R., de Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary TK, Tekendo-Ngongang, Cedrik, Fieggen, Karen, Prijoles, E.J., Tanpaiboon, Pranoot, Honey, Engela, Ho-Ming, Luk, Lo, Ivan FM, Thong, Meow-Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, Bouchikhi, Ihssane El, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H.W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., de Herreros, María Beatriz, Lee, Ni-Chung, Jamuar, Saumya S., Lai, Angeline, Shien, Tan Ee, Lim, Jiin Ying, Wen-Min, Cham Breana, Gupta, Neerja, Lotz-Esquivel, Stephanie, Badilla-Porras, Ramsés, Hussen, Dalia Farouk, El Ruby, Mona O., Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A. Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H.Y., Trubnykova, Milana, La Serna, Jorge, Jugo, Bertha Elena Gallardo, Pastor, Miguel Chávez, Barriga, Hugo Hernán Abarca, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adebowale, Adeyemo A., Morris, Colleen A., Moretti-Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian

    Publicado em 2018
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  8. 8
    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy Por Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y., Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M., Gunay-Aygun, Meral, Muriello, Michael J., Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G., Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl A. A. P., Oegema, Renske, Mitchell, Wendy G., Pierson, Tyler Mark, Andrews, Marisa V., Willing, Marcia C., Rodan, Lance H., Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H., Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M., Hashem, Mais O., AlSayed, Moeenaldeen D., Abdulrahim, Maha M., Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel A. H., Faqeih, Eissa A., Asmari, Ali Al, Algain, Sulwan M., Jad, Lamyaa A., Aldhalaan, Hesham M., Helbig, Ingo, Koolen, David A., Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E., Klee, Eric W., Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A., Stewart, James C., Claridge-Chang, Adam, Lefeber, Dirk J., Alkuraya, Fowzan S., Mathuru, Ajay S., Venkatesh, Byrappa, Barycki, Joseph J., Simpson, Melanie A., Jamuar, Saumya S., Schöls, Ludger, Reversade, Bruno

    Publicado em 2020
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