Results 191 to 200 of about 362,871 (216)

3A or not 3A: Cytidine deaminases in the etiology of the CAG-repeat expansion diseases. [PDF]

Proc Natl Acad Sci U S A
Usdin K.
europepmc   +1 more source

Small Supernumerary Marker Chromosome (sSMC) 15 in Male Primary Infertility: A Case Study. [PDF]

Case Rep Med
Mottola F, Finelli R, Feola V, Leisegang K, Rocco L.   +4 more
europepmc   +1 more source

A genome-wide association study identifies novel genetic variants associated with neck or shoulder pain in the UK biobank (N = 430,193). [PDF]

Pain Rep
Tao Y, Pan Q, Cai T, Lu ZH, Haque M, Dottorini T, Colvin LA, Smith BH, Meng W.   +8 more
europepmc   +1 more source

Screening and prenatal diagnosis of fetal cytomegalovirus infection: experience in a western Chinese city. [PDF]

BMC Infect Dis
Kang H, Wang L, Chen Y, Dong T, Pan Y, Liu Q.   +5 more
europepmc   +1 more source

Paediatric Congenital Enteropathies: Clinical and Histological Review. [PDF]

Diagnostics (Basel)
Arienzo F, Giovannoni I, Diamanti A, Trovato CM, De Angelis P, Imondi C, Alaggio R, Francalanci P.   +7 more
europepmc   +1 more source

Generation of Dual-Color FISH probes targeting 9p21, Xp21, and 17p13.1 loci as diagnostic markers for some genetic disorders and cancer in Egypt. [PDF]

J Genet Eng Biotechnol
Mohamed AM, Eid M, Eid O, Hussein SH, Mahmoud W, Mahrous R, Refaat K, Farid M.   +7 more
europepmc   +1 more source

Investigation of 22q11.2 Deletion Syndrome in the first Moroccan Pediatric Patients series. [PDF]

Tunis Med
Gaadi A, Bousfiha AA, Trhanint S, Bouguenouch L, Lehlimi M.   +4 more
europepmc   +1 more source

Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases. [PDF]

Front Genet
Ouyang X, Zhang Y, Yu T, Zhang Q, Xu L, Zhang VW, Wang B.   +6 more
europepmc   +1 more source

Association between imprinting disorders and assisted reproductive technologies. [PDF]

Epigenomics
Kagami M, Hara-Isono K, Sasaki A, Amita M.   +3 more
europepmc   +1 more source