Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Syndrome and DVL1[original query] |
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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. American journal of medical genetics. Part A 2020 Oct . Zhang Chaofan, Mazzeu Juliana F, Eisfeldt Jesper, Grochowski Christopher M, White Janson, Akdemir Zeynep C, Jhangiani Shalini N, Muzny Donna M, Gibbs Richard A, Lindstrand Anna, Lupski James R, Sutton V Reid, Carvalho Claudia M |
Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies. Human genetics 2021 2 140 (11): 1535-1545. Niskanen Julia E, Reunanen Vilma, Salonen Milla, Bannasch Danika, Lappalainen Anu K, Lohi Hannes, Hytönen Marjo |
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG advances 2022 1 3 (1): 100074. Zhang Chaofan, Jolly Angad, Shayota Brian J, Mazzeu Juliana F, Du Haowei, Dawood Moez, Soper Patricia Celestino, Ramalho de Lima Ariadne, Ferreira Bárbara Merfort, Coban-Akdemir Zeynep, White Janson, Shears Deborah, Thomson Fraser Robert, Douglas Sarah Louise, Wainwright Andrew, Bailey Kathryn, Wordsworth Paul, Oldridge Mike, Lester Tracy, Calder Alistair D, Dumic Katja, Banka Siddharth, Donnai Dian, Jhangiani Shalini N, Potocki Lorraine, Chung Wendy K, Mora Sara, Northrup Hope, Ashfaq Myla, Rosenfeld Jill A, Mason Kati, Pollack Lynda C, McConkie-Rosell Allyn, Kelly Wei, McDonald Marie, Hauser Natalie S, Leahy Peter, Powell Cynthia M, Boy Raquel, Honjo Rachel Sayuri, Kok Fernando, Martelli Lucia R, Filho Vicente Odone, Genomics England Research Consortium , Muzny Donna M, Gibbs Richard A, Posey Jennifer E, Liu Pengfei, Lupski James R, Sutton V Reid, Carvalho Claudia M |
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