Results 171 to 180 of about 151,372 (221)

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

Surgical outcomes of a congenital nystagmus family with a missense mutation in the FRMD7 gene. [PDF]

Heliyon
Liu J, Wang M, Pang H, Liu F, Bu J.
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

46 XX Ovotesticular Disorder of Sex Development with Gonadotropin-Releasing Hormone Receptor, Autosomal Recessive Heterozygous Missense Mutation and Autosomal Dominant Heterozygous Missense Mutation of the PROKR2 Gene: A Case Report. [PDF]

Glob Med Genet
Peranzoni F, De Castro R, Merlini E, Nguyen YL.   +3 more
europepmc   +1 more source

Absence of alpha‐sarcoglycan and novel missense mutations in the alpha‐sarcoglycan gene in a young British girl with muscular dystrophy [PDF]

, 1997
Rosaline C. M. Quinlivan, S. Robb, Caroline A. Sewry, Victor Dubowitz, F. Piccolo, Kaplan Jc   +5 more
openalex   +1 more source

Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma. [PDF]

Front Oncol
Hao Y, Wu R, Chen X, Shen Y, Chou M, Yang J.   +5 more
europepmc   +1 more source

VHL missense mutation delineate aggressive clear cell renal cell carcinoma subtype with favorable immunotherapeutic response. [PDF]

J Immunother Cancer
Xu Z, Liu L, Jiang W, Qiu Y, Zhang B, Cheng J, Luo J, Guo J, Xu J.   +8 more
europepmc   +1 more source

A Critical Functional Missense Mutation (T117M) in Sheep MC4R Gene Significantly Leads to Gain-of-Function. [PDF]

Animals (Basel)
Zhao Z, Yang Y, Liu P, Yan T, Li R, Pan C, Li Y, Lan X.   +7 more
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

Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH. [PDF]

Front Genet
Liu Y, Fan X, Qian K, Wu C, Zhang L, Yuan L, Man Z, Wu S, Li P, Wang X, Li W, Zhang Y, Sun S, Yu C.   +13 more
europepmc   +1 more source