Results 211 to 220 of about 241,061 (333)

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

A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and Myopathy

, 1999
Shamima Rahman, Jan‐Willem Taanman, Jonathan M. Cooper, Isabelle Nelson, I. Hargreaves, Brigitte Meunier, Michael G. Hanna, Joaquín J. García, Roderick Capaldi, Brian Lake, James V. Leonard, Anthony H.V. Schapira   +11 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 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

Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor Subunit Gene: Identification and Functional Characterization of Six New Mutations [PDF]

, 1997
Kinji Ohno, Polly A. Quiram, Margherita Milone, Hai-Long Wang, Marion C. Harper, J. Ned Pruitt, Joan M. Brengman, Lily Pao, Kenneth H. Fischbeck, Thomas O. Crawford, Steven M. Sine, Andrew G. Engel   +11 more
openalex   +1 more source

Development of functional assays for BRCA1 missense mutations [PDF]

Breast Cancer Research, 2008
Sturdy, A, Finch, D, Naseem, R, Trump, D, Evens, G, Webb, M   +5 more
openaire   +3 more sources

Studying the Impact of the DDB2 T338M Missense Mutation on the Development of Equine Squamous Cell Carcinoma and Sarcoid. [PDF]

Animals (Basel)
Quatember H, Nell B, Richter B, Rigler D, Dolezal M, Sykora S, Wallner B.   +6 more
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

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

Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1 [PDF]

, 1999
Daniela T. Pilz, J. Kuć, Naomichi Matsumoto, Joann Bodurtha, B. Bernadi, C. A. Tassinari, William B. Dobyns, David H. Ledbetter   +7 more
openalex   +1 more source