Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Ellis-van Creveld Syndrome[original query] |
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EVC gene polymorphisms and risks of isolated hypospadias - a preliminary study. Central European journal of urology 2015 68 (2): 257-62. Kowal Andrzej, Mostowska Adrianna, Mydlak Dariusz, Eberdt-Go??bek Bo?ena, Misztal Matthew, Jagodzi?ski Pawe? P, Hozyasz Kamil |
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. Clinical genetics 2017 9 93 (3): 632-639. Niceta M, Margiotti K, Digilio M C, Guida V, Bruselles A, Pizzi S, Ferraris A, Memo L, Laforgia N, Dentici M L, Consoli F, Torrente I, Ruiz-Perez V L, Dallapiccola B, Marino B, De Luca A, Tartaglia |
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals. Journal of medical genetics 2022 8 . Aubert-Mucca Marion, Huber Céline, Baujat Genevieve, Michot Caroline, Zarhrate Mohammed, Bras Marc, Boutaud Lucile, Malan Valérie, Attie-Bitach Tania, , Cormier-Daire Valer |
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