Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Syndrome and EFNB1[original query] |
---|
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. European journal of human genetics : EJHG 2015 Jul 23 (7): 907-14. Paumard-Hernández Beatriz, Berges-Soria Julia, Barroso Eva, Rivera-Pedroza Carlos I, Pérez-Carrizosa Virginia, Benito-Sanz Sara, López-Messa Eva, Santos Fernando, García-Recuero Ignacio I, Romance Ana, Ballesta-Martínez Juliana María, López-González Vanesa, Campos-Barros Ángel, Cruz Jaime, Guillén-Navarro Encarna, Sánchez Del Pozo Jaime, Lapunzina Pablo, García-Miñaur Sixto, Heath Karen |
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. Genetics in medicine : official journal of the American College of Medical Genetics 2017 12 20 (9): 1061-1068. Lee Eric, Le Trang, Zhu Ying, Elakis George, Turner Anne, Lo William, Venselaar Hanka, Verrenkamp Carol-Ann, Snow Nicole, Mowat David, Kirk Edwin Philip, Sachdev Rani, Smith Janine, Brown Natasha Jane, Wallis Mathew, Barnett Chris, McKenzie Fiona, Freckmann Mary-Louise, Collins Felicity, Chopra Maya, Gregersen Nerine, Hayes Ian, Rajagopalan Sulekha, Tan Tiong Yang, Stark Zornitza, Savarirayan Ravi, Yeung Alison, Adès Lesley, Gattas Michael, Gibson Kate, Gabbett Michael, Amor David John, Lattanzi Wanda, Boyd Simeon, Haan Eric, Gianoutsos Mark, Cox Timothy Chilton, Buckley Michael Francis, Roscioli To |
Nonsyndromic craniosynostosis: novel coding variants. Pediatric research 2019 1 85 (4): 463-468. Sewda Anshuman, White Sierra R, Erazo Monica, Hao Ke, García-Fructuoso Gemma, Fernández-Rodriguez Ivette, Heuzé Yann, Richtsmeier Joan T, Romitti Paul A, Reva Boris, Jabs Ethylin Wang, Peter In |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 06, 2024
- Content source: