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Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7
Reddy, Ramesh, Akoury, Elie, Phuong Nguyen, Ngoc Minh, Abdul-Rahman, Omar A, Dery, Christine, Gupta, Neerja, Daley, William P, Ao, Asangla, Landolsi, Hanene, Ann Fisher, Rosemary, Touitou, Isabelle, Slim, Rima
Published in European journal of human genetics : EJHG (01.09.2013)
Published in European journal of human genetics : EJHG (01.09.2013)
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Journal Article
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation
Deveault, Catherine, Qian, Jian Hua, Chebaro, Wafaa, Ao, Asangla, Gilbert, Lucy, Mehio, Amira, Khan, Rabia, Tan, Seang Lin, Wischmeijer, Anita, Coullin, Philippe, Xie, Xing, Slim, Rima
Published in Human molecular genetics (01.03.2009)
Published in Human molecular genetics (01.03.2009)
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Journal Article
No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles
Mahadevan, Sangeetha, Wen, Shu, Balasa, Alfred, Fruhman, Gary, Mateus, Julio, Wagner, Andrew, Al-Hussaini, Tarek, Van den Veyver, Ignatia B.
Published in Prenatal diagnosis (01.12.2013)
Published in Prenatal diagnosis (01.12.2013)
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Journal Article
A Definitive Haplotype Map as Determined by Genotyping Duplicated Haploid Genomes Finds a Predominant Haplotype Preference at Copy-Number Variation Events
Kukita, Yoji, Yahara, Koji, Tahira, Tomoko, Higasa, Koichiro, Sonoda, Miki, Yamamoto, Ken, Kato, Kiyoko, Wake, Norio, Hayashi, Kenshi
Published in American journal of human genetics (11.06.2010)
Published in American journal of human genetics (11.06.2010)
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Journal Article
Genetic differentiation of complete hydatidiform moles coexisting with normal fetuses by short tandem repeat–derived deoxyribonucleic acid polymorphism analysis
Ishii, Jo, Iitsuka, Yoshinori, Takano, Hajime, Matsui, Hideo, Osada, Hisao, Sekiya, Souei
Published in American journal of obstetrics and gynecology (01.09.1998)
Published in American journal of obstetrics and gynecology (01.09.1998)
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Journal Article
Relaxation of Imprinting in Trophoblastic Disease
Ariel, I., Lustig, O., Oyer, C.E., Elkin, M., Gonik, B., Rachmilewitz, J., Biran, H., Goshen, R., de Groot, N., Hochberg, A.
Published in Gynecologic oncology (01.05.1994)
Published in Gynecologic oncology (01.05.1994)
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Journal Article