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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 20, 2025. (Total: 235500Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Syndrome and MLL2[original query]
A mutation screen in patients with Kabuki syndrome.
Human genetics 2011 Dec 130 (6): 715-24.
Li Yun, Bögershausen Nina, Alanay Yasemin, Simsek Kiper Pelin Ozlem, Plume Nadine, Keupp Katharina, Pohl Esther, Pawlik Barbara, Rachwalski Martin, Milz Esther, Thoenes Michaela, Albrecht Beate, Prott Eva-Christina, Lehmkühler Margret, Demuth Stephanie, Utine Gülen Eda, Boduroglu Koray, Frankenbusch Katja, Borck Guntram, Gillessen-Kaesbach Gabriele, Yigit Gökhan, Wieczorek Dagmar, Wollnik Ber
Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
The Journal of pediatrics 2013 Sep 163 (3): 742-6.
Courcet Jean-Benoît, Faivre Laurence, Michot Caroline, Burguet Antoine, Perez-Martin Stéphanie, Alix Eudeline, Amiel Jeanne, Baumann Clarisse, Cordier Marie-Pierre, Cormier-Daire Valérie, Delrue Marie Ange, Gilbert-Dussardier Brigitte, Goldenberg Alice, Jacquemont Marie-Line, Jaquette Aurélia, Kayirangwa Honorine, Lacombe Didier, Le Merrer Martine, Toutain Annick, Odent Sylvie, Moncla Anne, Pelet Anna, Philip Nicole, Pinson Lucille, Poisson Sylvain, Kim-Han Le Quan Sang, Roume Joelle, Sanchez Elodie, Willems Marjolaine, Till Marianne, Vincent-Delorme Catherine, Mousson Christiane, Vinault Sandrine, Binquet Christine, Huet Frédéric, Sarda Pierre, Salomon Rémi, Lyonnet Stanislas, Sanlaville Damien, Geneviève Dav
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
Clinical genetics 2016 09 90 (3): 230-7.
Paderová J, Holubová A, Simandlová M, Puchmajerová A, Vlcková M, Malíková M, Pourová R, Vejvalková S, Havlovicová M, Šenkeríková M, Ptáková N, Drábová J, Geryk J, Maver A, Krepelová A, Macek
Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.
Oncotarget 2018 1 8 (64): 108020-108030.
Porkka Noora, Valo Satu, Nieminen Taina T, Olkinuora Alisa, Mäki-Nevala Satu, Eldfors Samuli, Peltomäki Päi
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