Results 261 to 270 of about 1,506,824 (383)

Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family [PDF]

, 1998
Kaoru Akimoto, Michiko Furutani, Shinichiro Imamura, Yoshiyuki Furutani, Hiroshi Kasanuki, Atsuyoshi Takao, Kazuo Momma, Rumiko Matsuoka   +7 more
openalex   +1 more source

Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report. [PDF]

Front Med (Lausanne)
Zhang J, Guo M, Yuan D, Wei J, Cui H.
europepmc   +1 more source

Identification and characterization of two missense mutations causing factor XIIIA deficiency [PDF]

, 1999
Sasichai Kangsadalampai, Gareth Chelvanayagam, Rohan T. Baker, Karin Tiedemann, Ponnudurai Kuperan, Philip G. Board   +5 more
openalex   +1 more source

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria. [PDF]

Front Genet
Jia N, Yimin Y, Li M, Jiang L, Liu Y.
europepmc   +1 more source

A missense mutation in RRM1 contributes to animal tameness. [PDF]

Sci Adv, 2023
Dou M, Li M, Zheng Z, Chen Q, Wu Y, Wang J, Shan H, Wang F, Dai X, Li Y, Yang Z, Tan G, Luo F, Chen L, Shi YS, Wu JW, Luo XJ, Asadollahpour Nanaei H, Niyazbekova Z, Zhang G, Wang W, Zhao S, Zheng W, Wang X, Jiang Y.   +24 more
europepmc   +1 more source

Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization [PDF]

, 1998
Katsumi Goji, Eüi Nishijima, Chikara Tsugawa, Hisahide Nishio, Rohit Kumar Pokharel, Masafumi Matsuo   +5 more
openalex   +1 more source

A novel α-synuclein missense mutation in Parkinson disease

Neurology, 2013
C. Proukakis, Christopher G. Dudzik, T. Brier, D. Mackay, J. Cooper, G. Millhauser, H. Houlden, A. Schapira   +7 more
semanticscholar   +1 more source

A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy. [PDF]

J Med Life
Capisizu A, Sandu C, Caragea RM, Capisizu AS.   +3 more
europepmc   +1 more source

A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility. [PDF]

Front Cell Dev Biol, 2023
Meindl K, Issler N, Afonso S, Cebrian-Serrano A, Müller K, Sterner C, Othmen H, Tegtmeier I, Witzgall R, Klootwijk E, Davies B, Kleta R, Warth R.   +12 more
europepmc   +1 more source

Novel missense mutation (P131R) in the HMG box of SRY in XY sex reversal [PDF]

, 1998
Yvonne Lundberg, Martin Ritzén, Jonas Harlin, Anna Wedell   +3 more
openalex   +1 more source