Risultati della ricerca - Bonsu Ku
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Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3) Autoría: Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf, Bonsu Ku, Syeda Iqra Hussain, Solveig Schulz, Oliver Puk, Saskia Biskup, Jonathan D. J. Labonne, Dilan Wellalage Don, Vijay Gupta, Tae-Ik Choi, Saadullah Khan, Naveed Wasif, Yves Lacassie, Lawrence C. Layman, Sibel Aylin Ugur Iseri, Cheol-Hee Kim, Hyung-Goo Kim
Pubblicazione 2024Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
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SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X‐Linked Intellectual Disability Autoría: Arkaprava Roychaudhury, Yu‐Ri Lee, Tae‐Ik Choi, Mervyn G. Thomas, Tahir N. Khan, Hammad Yousaf, Cindy Skinner, Gail Maconachie, Moira Crosier, Holli Horak, Cris S. Constantinescu, Tae‐Yoon Kim, Kang‐Han Lee, Jae‐Jun Kyung, Tao Wang, Bonsu Ku, Bernard N. Chodirker, Michael F. Hammer, Irene Gottlob, William H. J. Norton, Robert Gerlai, Hyung‐Goo Kim, Claudio Graziano, Tommaso Pippucci, Emanuela Iovino, Francesca Montanari, Giulia Severi, Camilo Toro, Cornelius F. Boerkoel, Hyo Sun Cha, Cheol Yong Choi, Sungjin Kim, Je‐Hyun Yoon, Kelly Gilmore, Neeta L. Vora, Erica E. Davis, Albert E. Chudley, Charles E. Schwartz, Cheol‐Hee Kim
Pubblicazione 2024Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso