Results 131 to 140 of about 151,372 (221)

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene [PDF]

, 1995
Hannie Kremer, Robert Kraaij, S. P. A. Toledo, M Post, J Fridman, C Y Hayashida, Margo van Reen, Edwin Milgröm, H.-H. Ropers, Edwin C.M. Mariman, Axel P. N. Themmen, Han G. Brunner   +11 more
openalex   +1 more source

Glanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation. [PDF]

Cureus
Faraz S, Nikhat F, Hayel Suleiman Beshtawi H, Malik SA, Yahya Hashim K.   +4 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

The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis

, 1997
Magitha M. Maheshwar, Jeremy P. Cheadle, Adriane C. Jones, J Myring, Alan Fryer, Peter C. Harris, Julian R. Sampson   +6 more
openalex   +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

High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population [PDF]

, 1996
P. J. Saker, Andrew T. Hattersley, B. Barrow, M S Hammersley, J. McLellan, Y. M. Dennis Lo, R.J. Olds, M. D. G. Gillmer, R R Holman, R. C. Turner   +9 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 novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia [PDF]

, 1998
Naoya Sugimoto, Sadahiko Iwamoto, Yuichi Hoshino, Eiji Kajii   +3 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

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