Hasil Pencarian - Hyung-Goo Kim

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  1. 1
    Editorial for the <i>IJMS</i> Special Issue on “Molecular Genetics of Autism and Intellectual Disability”

    Editorial for the <i>IJMS</i> Special Issue on “Molecular Genetics of Autism and Intellectual Disability” oleh Hyung-Goo Kim

    Diterbitkan 2023-06-01
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  2. 2
    Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.

    Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment. oleh Ying F Liu, Sarah M Sowell, Yue Luo, Alka Chaubey, Richard S Cameron, Hyung-Goo Kim, Anand K Srivastava

    Diterbitkan 2015-01-01
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  3. 3
    Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing

    Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing oleh Vijay Gupta, Afif Ben-Mahmoud, Bonsu Ku, Dinesh Velayutham, Zainab Jan, Abdi Yousef Aden, Ahmad Kubbar, Fouad Alshaban, Fouad Alshaban, Lawrence W. Stanton, Lawrence W. Stanton, Puthen Veettil Jithesh, Lawrence C. Layman, Lawrence C. Layman, Hyung-Goo Kim, Hyung-Goo Kim

    Diterbitkan 2023-10-01
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  4. 4
    Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development

    Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development oleh Jiyoung Lee, Yeonjoo Kim, Paris Ataliotis, Hyung-Goo Kim, Dae-Won Kim, Dorothy C. Bennett, Nigel A. Brown, Lawrence C. Layman, Soo-Hyun Kim

    Diterbitkan 2023-07-01
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  5. 5
    Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

    Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia oleh Durkadin Demir Eksi, Yiping Shen, Munire Erman, Lynn P. Chorich, Megan E. Sullivan, Meric Bilekdemir, Elanur Yılmaz, Guven Luleci, Hyung-Goo Kim, Ozgul M. Alper, Lawrence C. Layman

    Diterbitkan 2018-02-01
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  6. 6
    Development of novel biocompatible thermosensitive anti-adhesive agents using human-derived acellular dermal matrix.

    Development of novel biocompatible thermosensitive anti-adhesive agents using human-derived acellular dermal matrix. oleh Jong Ju Jeong, Dong Won Lee, Seung Yong Song, Yerin Park, Ji Hee Kim, Jang Il Kim, Hyung Goo Kim, Ki Taek Nam, Won Jai Lee, Kee-Hyun Nam, Ju Hee Lee

    Diterbitkan 2019-01-01
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  7. 7
    Novel Loss-of-Function Variants in <i>CDC14A</i> are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

    Novel Loss-of-Function Variants in <i>CDC14A</i> are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients oleh Julia Doll, Susanne Kolb, Linda Schnapp, Aboulfazl Rad, Franz Rüschendorf, Imran Khan, Abolfazl Adli, Atefeh Hasanzadeh, Daniel Liedtke, Sabine Knaup, Michaela AH Hofrichter, Tobias Müller, Marcus Dittrich, Il-Keun Kong, Hyung-Goo Kim, Thomas Haaf, Barbara Vona

    Diterbitkan 2020-01-01
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  8. 8
    Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism

    Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism oleh Mohammad-Reza Ghasemi, Hossein Sadeghi, Farzad Hashemi-Gorji, Reza Mirfakhraie, Vijay Gupta, Afif Ben-Mahmoud, Saman Bagheri, Katayoon Razjouyan, Shadab Salehpour, Seyed Hassan Tonekaboni, Mehdi Dianatpour, Davood Omrani, Mi-Hyeon Jang, Lawrence C. Layman, Mohammad Miryounesi, Hyung-Goo Kim

    Diterbitkan 2024-08-01
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  9. 9
    A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

    A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndro... oleh Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M Maas, Yves Lacassie, Soo-Hyun Kim, Woo-Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol-Hee Kim, Lawrence C. Layman, Hyung-Goo Kim

    Diterbitkan 2023-08-01
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  10. 10
    Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism

    Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism oleh Oc-Hee Kim, Hyun-Ju Cho, Enna Han, Ted Inpyo Hong, Krishan Ariyasiri, Jung-Hwa Choi, Kyu-Seok Hwang, Yun-Mi Jeong, Se-Yeol Yang, Kweon Yu, Doo-Sang Park, Hyun-Woo Oh, Erica E. Davis, Charles E. Schwartz, Jeong-Soo Lee, Hyung-Goo Kim, Cheol-Hee Kim

    Diterbitkan 2017-09-01
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  11. 11
    Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development

    Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development oleh Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan

    Diterbitkan 2020-05-01
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  12. 12
    Single Extracellular Vesicle Analysis Using Flow Cytometry for Neurological Disorder Biomarkers

    Single Extracellular Vesicle Analysis Using Flow Cytometry for Neurological Disorder Biomarkers oleh Houda Yasmine Ali Moussa, Nimshitha Manaph, Gowher Ali, Selma Maacha, Kyung Chul Shin, Samia M. Ltaief, Vijay Gupta, Yongfeng Tong, Janarthanan Ponraj, Salam Salloum-Asfar, Said Mansour, Fouad A. Al-Shaban, Hyung-Goo Kim, Lawrence W. Stanton, Lawrence W. Stanton, Jean-Charles Grivel, Sara A. Abdulla, Abeer R. Al-Shammari, Yongsoo Park, Yongsoo Park

    Diterbitkan 2022-05-01
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  13. 13
    Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

    Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism oleh Hyung-Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaetan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri, Eric Muller, Dianalee McKnight, Erin Torti, Franz Rüschendorf, Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il-Keun Kong, Suneeta Madan-Khetarpal, Cheol-Hee Kim

    Diterbitkan 2019-10-01
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  14. 14
    A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

    A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders oleh Afif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, Pinang Shastri, Alberto de la Fuente, Yongsoo Park, Kyung Chul Shin, Chong Ae Kim, Aparecido Divino da Cruz, Aparecido Divino da Cruz, Irene Plaza Pinto, Irene Plaza Pinto, Lysa Bernardes Minasi, Lysa Bernardes Minasi, Alex Silva da Cruz, Alex Silva da Cruz, Laurence Faivre, Laurence Faivre, Patrick Callier, Caroline Racine, Lawrence C. Layman, Lawrence C. Layman, Il-Keun Kong, Cheol-Hee Kim, Woo-Yang Kim, Hyung-Goo Kim

    Diterbitkan 2022-10-01
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