Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Loading…
Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome
Jang, Mi-Ae, Kim, Eun Kyoung, Now, Hesung, Nguyen, Nhung T.H., Kim, Woo-Jong, Yoo, Joo-Yeon, Lee, Jinhyuk, Jeong, Yun-Mi, Kim, Cheol-Hee, Kim, Ok-Hwa, Sohn, Seongsoo, Nam, Seong-Hyeuk, Hong, Yoojin, Lee, Yong Seok, Chang, Sung-A, Jang, Shin Yi, Kim, Jong-Won, Lee, Myung-Shik, Lim, So Young, Sung, Ki-Sun, Park, Ki-Tae, Kim, Byoung Joon, Lee, Joo-Heung, Kim, Duk-Kyung, Kee, Changwon, Ki, Chang-Seok
Published in American journal of human genetics (05.02.2015)
Published in American journal of human genetics (05.02.2015)
Get full text
Journal Article
Loading…
Frequency of sternal variations and anomalies in living individuals evaluated by MDCT
Vatzia, Konstantina, Fanariotis, Michail, Makridis, Konstantinos G., Vlychou, Marianna, Fezoulidis, Ioannis V., Vassiou, Katerina
Published in European journal of radiology (01.09.2021)
Published in European journal of radiology (01.09.2021)
Get full text
Journal Article
Loading…
Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity
Serey‐Gaut, Margaux, Scala, Marcello, Reversade, Bruno, Ruaud, Lyse, Cabrol, Christelle, Musacchia, Francesco, Torella, Annalaura, Accogli, Andrea, Escande‐Beillard, Nathalie, Langlais, Jean, Piatelli, Gianluca, Consales, Alessandro, Nigro, Vincenzo, Capra, Valeria, Van Maldergem, Lionel
Published in American Journal of Medical Genetics Part A (01.06.2020)
Published in American Journal of Medical Genetics Part A (01.06.2020)
Get full text
Journal Article
Loading…
Sternal foramina: incidence in Greek population, anatomy and clinical considerations
Paraskevas, George, Tzika, Maria, Anastasopoulos, Nikolaos, Kitsoulis, Panagiotis, Sofidis, George, Natsis, Konstantinos
Published in Surgical and radiologic anatomy (English ed.) (01.09.2015)
Published in Surgical and radiologic anatomy (English ed.) (01.09.2015)
Get full text
Journal Article
Loading…
"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome
Crow, Y J, Zuberi, S M, McWilliam, R, Tolmie, J L, Hollman, A, Pohl, K, Stephenson, J B
Published in Journal of medical genetics (01.02.1998)
Published in Journal of medical genetics (01.02.1998)
Get full text
Journal Article