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收藏Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
Altunoglu, Umut; Palencia-Campos, Adrian; Gunes, Nilay; Turgut, Gozde Tutku; Nevado, Julian; Lapunzina, Pablo; Valencia, Maria; Iturrate, Asier; Otaify, Ghada; Elhossini, Rasha; Ashour, Adel; K. Amin, Asmaa; Elnahas, Rania F.; Fernandez-Nunez, Elisa; Flores, Carmen-Lisset; Arias, Pedro; Tenorio, Jair; Chamorro Fernandez, Carlos Israel; Guven, Yeliz; Ozsu, Elif; Eklioglu, Beray Selver; Ibarra-Ramirez, Marisol; Diness, Birgitte Rode; Burnyte, Birute; Ajmi, Houda; Yuksel, Zafer; Yildirim, Ruken; Unal, Edip; Abdalla, Ebtesam; Aglan, Mona; Kayserili, Hulya; Tuysuz, Beyhan; Ruiz-Perez, Victor
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收藏Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4
Kantaputra, Piranit; Guven, Yeliz; Aksu, Bagdagul; Kalayci, Tugba; Dogan, Cezmi; Intachai, Worrachet; Olsen, Bjorn; Tongsima, Sissades; Ngamphiw, Chumpol; Noppakun, Kajohnsak
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收藏Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
Du, Renqian; Dinckan, Nuriye; Song, Xiaofei; Coban-Akdemir, Zeynep; Jhangiani, Shalini N.; Guven, Yeliz; Aktoren, Oya; Kayserili, Hulya; Petty, Lauren E.; Muzny, Donna M.; Below, Jennifer E.; Boerwinkle, Eric; Wu, Nan; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R.; Letra, Ariadne; Uyguner, Z. Oya
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收藏C5orf42 is the major gene responsible for OFD syndrome type VI
Lopez, Estelle; Thauvin-Robinet, Christel; Reversade, Bruno; El Khartoufi, Nadia; Devisme, Louise; Holder, Muriel; Ansart-Franquet, Helene; Avila, Magali; Lacombe, Didier; Kleinfinger, Pascale; Kaori, Irahara; Takanashi, Jun-Ichi; Le Merrer, Martine; Martinovic, Jelena; Noel, Catherine; Shboul, Mohammad; Ho, Lena; Guven, Yeliz; Razavi, Ferechte; Burglen, Lydie; Gigot, Nadege; Darmency-Stamboul, Veronique; Thevenon, Julien; Aral, Bernard; Kayserili, Huelya; Huet, Frederic; Lyonnet, Stanislas; Le Caignec, Cedric; Franco, Brunella; Riviere, Jean-Baptiste; Faivre, Laurence; Attie-Bitach, Tania
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