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Journal of Human Genetics, ISSN 1434-5161, 03/2013, Volume 58, Issue 3, pp. 117 - 117
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 376 - 378
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2002, Volume 30, Issue 4, pp. 365 - 366
Journal Article
Stroke, ISSN 0039-2499, 05/2014, Volume 45, Issue 5, pp. 1415 - 1421
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2011, Volume 155, Issue 7, pp. 1511 - 1516
Journal Article
Journal Article
Human genome variation, ISSN 2054-345X, 2019, Volume 6, Issue 1, pp. 23 - 5
Cornelia de Lange syndrome (CdLS) is a cohesinopathy caused by genetic variations. We present a female with -associated CdLS with a novel truncation mutation... 
Mutation
Journal Article
by Abdulla, Mahmood Ameen and Ahmed, Ikhlak and Assawamakin, Anunchai and Bhak, Jong and Brahmachari, Samir K and Calacal, Gayvelline C and Chaurasia, Amit and Chen, Chien-Hsiun and Chen, Jieming and Chen, Yuan-Tsong and Chu, Jiayou and Cutiongco-de La Paz, Eva Maria C and De Ungria, Maria Corazon A and Delfin, Frederick C and Edo, Juli and Fuchareon, Suthat and Ghang, Ho and Gojobori, Takashi and Han, Junsong and Ho, Sheng-Feng and Hoh, Boon Peng and Huang, Wei and Inoko, Hidetoshi and Jha, Pankaj and Jinam, Timothy A and Jin, Li and Jung, Jongsun and Kangwanpong, Daoroong and Kampuansai, Jatupol and Kennedy, Giulia C and Khurana, Preeti and Kim, Hyung-Lae and Kim, Kwangjoong and Kim, Sangsoo and Kim, Woo-Yeon and Kimm, Kuchan and Kimura, Ryosuke and Koike, Tomohiro and Kulawonganunchai, Supasak and Kumar, Vikrant and Lai, Poh San and Lee, Jong-Young and Lee, Sunghoon and Liu, Edison T and Majumder, Partha P and Mandapati, Kiran Kumar and Marzuki, Sangkot and Mitchell, Wayne and Mukerji, Mitali and Naritomi, Kenji and Ngamphiw, Chumpol and Niikawa, Norio and Nishida, Nao and Oh, Bermseok and Oh, Sangho and Ohashi, Jun and Oka, Akira and Ong, Rick and Padilla, Carmencita D and Palittapongarnpim, Prasit and Perdigon, Henry B and Phipps, Maude Elvira and Png, Eileen and Sakaki, Yoshiyuki and Salvador, Jazelyn M and Sandraling, Yuliana and Scaria, Vinod and Seielstad, Mark and Sidek, Mohd Ros and Sinha, Amit and Srikummool, Metawee and Sudoyo, Herawati and Sugano, Sumio and Suryadi, Helena and Suzuki, Yoshiyuki and Tabbada, Kristina A and Tan, Adrian and Tokunaga, Katsushi and Tongsima, Sissades and Villamor, Lilian P and Wang, Eric and Wang, Ying and Wang, Haifeng and Wu, Jer-Yuarn and Xiao, Huasheng and Xu, Shuhua and Yang, Jin Ok and Shugart, Yin Yao and Yoo, Hyang-Sook and Yuan, Wentao and Zhao, Guoping and Zilfalil, Bin Alwi and HUGO Pan Asian SNP Consortium and Indian Genome Variation Consortium and HUGO Pan-Asian SNP Consortium and The HUGO Pan-Asian SNP Consortium
Science, ISSN 0036-8075, 12/2009, Volume 326, Issue 5959, pp. 1541 - 1545
Journal Article
Clinical Case Reports, ISSN 2050-0904, 02/2018, Volume 6, Issue 2, pp. 330 - 336
A Japanese boy aged 7 years with Bainbridge‐Ropers syndrome ( BRPS ) had a prominent domed forehead without metric ridge, mild prominence of the Sylvian... 
ASXL | Bainbridge‐Ropers syndrome | Sylvian fissure
Journal Article
Journal Article