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Hyung-Goo Kim
Hyung-Goo Kim
Hamad Bin Khalifa University
Bestätigte E-Mail-Adresse bei hbku.edu.qa - Startseite
Titel
Zitiert von
Zitiert von
Jahr
Disruption of neurexin 1 associated with autism spectrum disorder
HG Kim, S Kishikawa, AW Higgins, IS Seong, DJ Donovan, Y Shen, ...
The American Journal of Human Genetics 82 (1), 199-207, 2008
6562008
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
ME Talkowski, JA Rosenfeld, I Blumenthal, V Pillalamarri, C Chiang, ...
Cell 149 (3), 525-537, 2012
5772012
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
LM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ...
Nature genetics 40 (6), 776-781, 2008
4122008
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
HG Kim, I Kurth, F Lan, I Meliciani, W Wenzel, SH Eom, GB Kang, ...
The American Journal of Human Genetics 83 (4), 511-519, 2008
3482008
Human chromosome 7: DNA sequence and biology
SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ...
Science 300 (5620), 767-772, 2003
2512003
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux
W Lu, AM Van Eerde, X Fan, F Quintero-Rivera, S Kulkarni, H Ferguson, ...
The American Journal of Human Genetics 80 (4), 616-632, 2007
2222007
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
HG Kim, JW Ahn, I Kurth, R Ullmann, HT Kim, A Kulharya, KS Ha, ...
The American Journal of Human Genetics 87 (4), 465-479, 2010
2042010
Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant
SD Quaynor, EW Stradtman Jr, HG Kim, Y Shen, LP Chorich, ...
New England Journal of Medicine 369 (2), 164-171, 2013
1362013
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project
AW Higgins, FS Alkuraya, AF Bosco, KK Brown, GAP Bruns, DJ Donovan, ...
The American Journal of Human Genetics 82 (3), 712-722, 2008
1222008
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
LS Nguyen, HG Kim, JA Rosenfeld, Y Shen, JF Gusella, Y Lacassie, ...
Human molecular genetics 22 (9), 1816-1825, 2013
1112013
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
SD Quaynor, HG Kim, EM Cappello, T Williams, LP Chorich, DP Bick, ...
Fertility and sterility 96 (6), 1424-1430. e6, 2011
1082011
The molecular basis of impaired follicle-stimulating hormone action: evidence from human mutations and mouse models
ET Siegel, HG Kim, HK Nishimoto, LC Layman
Reproductive Sciences 20 (3), 211-233, 2013
862013
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
N Xu, HG Kim, B Bhagavath, SG Cho, JH Lee, K Ha, I Meliciani, W Wenzel, ...
Fertility and sterility 95 (5), 1613-1620. e7, 2011
742011
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome
SD Quaynor, ME Bosley, CG Duckworth, KR Porter, SH Kim, HG Kim, ...
Molecular and cellular endocrinology 437, 86-96, 2016
702016
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1
HG Kim, SR Herrick, E Lemyre, S Kishikawa, JA Salisz, S Seminara, ...
Journal of medical genetics 42 (8), 666-672, 2005
672005
Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism
OH Kim, HJ Cho, E Han, TI Hong, K Ariyasiri, JH Choi, KS Hwang, ...
Molecular autism 8 (1), 1-14, 2017
632017
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3–CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain
HG Nothwang, HG Kim, J Aoki, M Geisterfer, S Kübart, RD Wegner, ...
Human molecular genetics 10 (8), 797-806, 2001
612001
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
HG Kim, HT Kim, NT Leach, F Lan, R Ullmann, A Silahtaroglu, I Kurth, ...
The American Journal of Human Genetics 91 (1), 56-72, 2012
602012
Clinical manifestations of impaired GnRH neuron development and function
HG Kim, B Bhagavath, LC Layman
Neurosignals 16 (2-3), 165-182, 2008
572008
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
HG Kim, LC Layman
Molecular and cellular endocrinology 346 (1-2), 74-83, 2011
492011
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