Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 5 (of 5 Records) |
Query Trace: Kleefstra Syndrome[original query] |
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Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects. Molecular autism 2014 5 (1): 49. Balan Shabeesh, Iwayama Yoshimi, Maekawa Motoko, Toyota Tomoko, Ohnishi Tetsuo, Toyoshima Manabu, Shimamoto Chie, Esaki Kayoko, Yamada Kazuo, Iwata Yasuhide, Suzuki Katsuaki, Ide Masayuki, Ota Motonori, Fukuchi Satoshi, Tsujii Masatsugu, Mori Norio, Shinkai Yoichi, Yoshikawa Tak |
[Kleefstra syndrome 1 and ring chromosome 9 in a case]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 8 36 (8): 837-840. Lyu Nan, Li Dongxiao, Li Jingjie, Shang Qing, Ma Caiy |
[Genetic analysis of three patients with Kleefstra syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 4 38 (4): 347-350. Gong Yuhong, Zhu Xiaoming, Li Wen, Dong Guizhen, Xu Biao, Zhao Hongli |
MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV. Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2021 Mar . Stefekova Andrea, Capkova Pavlina, Capkova Zuzana, Curtisova Vaclava, Srovnal Josef, Mracka Enkhjargalan, Klaskova Eva, Prochazka Mart |
The role of the gut microbiota in patients with Kleefstra syndrome. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2023 1 . Bloemendaal Mirjam, Vlaming Priscilla, de Boer Anneke, Vermeulen-Kalk Karlijn, Bouman Arianne, Kleefstra Tjitske, Arias Vasquez Alejand |
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- Page last updated:May 20, 2024
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