Results 91 to 100 of about 15,235 (121)

A Rare Nonsense Mutation in the ABCB4 Gene Associated with Progressive Familial Intrahepatic Cholestasis Type 3: A Case Report. [PDF]

J Clin Med
Cai B, Lv D, Luo X, Zhou L.
europepmc   +1 more source

Gut microbiota metabolites and key target molecules in allergic rhinitis: a multi-omics study of gut-nose axis regulation via the inflammation-metabolism network. [PDF]

Front Microbiol
Zhang J, Zhao M, Yu Y, Zeng Y, Sun M, Wu C, Guo T, Lin L, Liu Z, Xie H.   +9 more
europepmc   +1 more source

A Novel Variant of the <i>ACTRT1</i> Gene Is Potentially Associated with Oligoasthenoteratozoospermia, Acrosome Detachment, and Fertilization Failure. [PDF]

Genes (Basel)
Solovova O, Khayat S, Bogolyubov S, Bragina E, Cherevatova T, Chernykh V.   +5 more
europepmc   +1 more source

Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families. [PDF]

NPJ Genom Med
Lee S, Seo GH, Kim SY, Jang SS, Jang S, Choi S, Chin H, Lee SJ, Oh DE, Ryu SW, Kim J, Moon D, Jang S, Lim BC, Moon J, Han H, Lee H, Chae JH.   +17 more
europepmc   +1 more source

A novel and complex chromosomal variation in a child with developmental delay: A case report. [PDF]

Medicine (Baltimore)
Chang H, Hu X, Chen X, Chen B.
europepmc   +1 more source

Online Mendelian Inheritance in Animals (OMIA): a genetic resource for vertebrate animals. [PDF]

Mamm Genome
Tammen I, Mather M, Leeb T, Nicholas FW.
europepmc   +1 more source

Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes. [PDF]

HGG Adv
Fischer MC, Reis LM, Lenberg J, Friedman J, Seese SE, Muheisen S, Writzl K, Golob B, Peterlin B, Semina EV.   +9 more
europepmc   +1 more source

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective. [PDF]

NAR Genom Bioinform
Rashid I, S P, Moharir SC, Mishra RK.
europepmc   +1 more source