Results 131 to 140 of about 22,844 (195)

Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing. [PDF]

JCO Precis Oncol
Neumann C, Dedousis D, Hall MJ.
europepmc   +1 more source

Dupilumab treatment for Chinese Nagashima-type palmoplantar keratoderma associated with atopic dermatitis: a case report. [PDF]

Front Immunol
Hua C, Cheng H, Chen X.
europepmc   +1 more source

CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family. [PDF]

BMC Med Genomics
Liu H, Liu X, Chen X, Pu Y, Liu W, Luo Z, Chen A, Zhu H, Xiong F, Zeng L, Wang J, Nie X, Zhu S.   +12 more
europepmc   +1 more source

Case Report: Post-LASIK exacerbation of granular corneal dystrophy type 2: a familial case with <i>TGFBI</i> mutation. [PDF]

Front Med (Lausanne)
Kuang L, Zhang X, Wang Y, Zhan Q, Su J, Lin B, Guo P.   +6 more
europepmc   +1 more source

Typical presentation of autosomal recessive oculocutaneous albinism in two siblings. [PDF]

GMS Ophthalmol Cases
Nishant P, Aftab N, Saha B, Raj A.
europepmc   +1 more source

Early genetic events in the colorectal carcinogenic pathway of familial adenomatous polyposis and sporadic polyp: germline and somatic alterations in carcinogenesis. [PDF]

Front Genet
Tanabe H, Mizukami Y, Ono Y, Takei H, Tamamura N, Kobayashi Y, Takahashi K, Ando K, Ueno N, Kashima S, Tanino M, Moriichi K, Fujiya M, Okumura T.   +13 more
europepmc   +1 more source

Genomic analysis reveals genetic diversity and selection signatures of the Yantai Black pig during domestication and breeding. [PDF]

Front Genet
Qin M, Ma C, Liang M, Zhang Y, Wang Z, Wang J, Li G, Sha Y, Jin P, Ju L, Liu X, Zeng Y, Li R.   +12 more
europepmc   +1 more source

Integrative proteomics reveals mitochondrial and immune signatures of MLH1 exon 13 deletion in Lynch syndrome-associated colorectal cancer. [PDF]

Front Mol Biosci
Chang C, Cao Y, Zhang B, Chen J, Chen L, Li W, Wang G.   +6 more
europepmc   +1 more source

Case Report: A family of congenital cataract caused by a novel mutation in the CRYGC gene c.52G>A. [PDF]

Front Med (Lausanne)
Ma S, Lu Y, Shao X, Liu Q, Yin X, Xue M.
europepmc   +1 more source