Results 151 to 160 of about 174,703 (205)

Severe Congenital Neutropenia With Negative Whole-Exome Sequencing Managed With Hematopoietic Stem Cell Transplantation: A Case Report. [PDF]

Cureus
Albar RF, Abdulaziz AA, Merdad AH, Felemban BS.   +3 more
europepmc   +1 more source

Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases. [PDF]

Front Med (Lausanne)
Ge Y, Yuan H, Yu Y, Xiao J, Liu D, Peng Y, Liu Y, Huang S, Yang B, Zou Y, Liu Y.   +10 more
europepmc   +1 more source

Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis. [PDF]

Ann Med
Wang L, Zhang Y, Zheng F, Dong H, Zhu X, Jia C, Zhang B.   +6 more
europepmc   +1 more source

Whole-exome sequencing analysis identifies risk genes for schizophrenia. [PDF]

Nat Commun
Chick SL, Holmans P, Cameron D, Grozeva D, Sims R, Williams J, Bray NJ, Owen MJ, O'Donovan MC, Walters JTR, Rees E.   +10 more
europepmc   +1 more source

Expanding the Genetic Spectrum of Non-Syndromic Cleft Lip and Palate Through Whole-Exome Sequencing. [PDF]

Int J Mol Sci
Biedziak B, Dąbrowska J, Bogdanowicz A, Karbowska K, Mostowska A.   +4 more
europepmc   +1 more source

Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases. [PDF]

BMC Pregnancy Childbirth
Liu J, He J, Tang W, Chen J, Luo Y, Li H, Li Z, Wu L.   +7 more
europepmc   +1 more source

Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants. [PDF]

J Hum Genet
Watanabe T, Kume K, Inoue K, Nakamura M, Yamamoto S, Kurashige T, Ohshita T, Tazuma T, Kaido M, Maetani Y, Maruyama H, Kawakami H.   +11 more
europepmc   +1 more source

Whole Exome Sequencing in Prenatal Diagnostics [PDF]

, 2018
Becher, Naja, Miltoft, Caroline Borregaard, Pedersen, Lars Henning, Vogel, Ida, Petersen, Olav Bjørn   +4 more
openaire   +1 more source