Results 131 to 140 of about 73,831 (171)

Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome. [PDF]

CEN Case Rep
Nagano C, Aoyama S, Kimura Y, Inoki Y, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Nozu K.   +8 more
europepmc   +1 more source

Contribution of rare variation to degenerative orthopedic diseases. [PDF]

Osteoarthr Cartil Open
Anker-Hansen C, Manderstedt E, Lind-Halldén C, Halldén C, Zöller B.   +4 more
europepmc   +1 more source

Genetic variations associated with immediate hypersensitivity reactions to iodinated contrast media: A whole exome sequencing study. [PDF]

PLoS One
Kang N, Kwon H, Seo ME, Min BJ, Lee BJ, Kim JH, Lee HY.   +6 more
europepmc   +1 more source

neomerDB: a comprehensive database of neomer biomarkers in cancer. [PDF]

Database (Oxford)
Provatas K, Chan CSY, Kerasiotis I, Bochalis E, Nayak A, Zacharia BE, Pavlopoulos GA, Li W, Georgakopoulos-Soares I.   +8 more
europepmc   +1 more source

Novel Compound Heterozygous CFAP53 Variants in a Fetus With Situs Inversus Totalis: A Case Report. [PDF]

Cureus
Lagios S, Spathi AE, Papanikolaou V, Leoutsakou T, Eleni T, Kavvadia M, Stauroulaki T, Xefteris A, Malamidou A, Rouvali A, Pegou AP, Souka AP, Chatziioannoy M, Destouni A, Antsaklis P, Pampanos A.   +15 more
europepmc   +1 more source

Neonatal Diabetes Mellitus Due to Homozygous ZNF808 Mutation Associated With Skeletal Anomalies: A Novel Presentation of Pancreatic Agenesis-3. [PDF]

Cureus
Alquraishi AS, Saad MM, Rayees S.
europepmc   +1 more source

Submicroscopic 16q24.2-q24.3 deletion in a family with nonsyndromic short stature. [PDF]

Hum Genome Var
Narita C, Utsunomiya H, Hamada J, Kageyama I, Fukami M, Nakamura A.   +5 more
europepmc   +1 more source

Whole exome sequencing: a new era in prenatal diagnostics. [PDF]

J Transl Med
Shi P, Wang C, Xia Y, Li Z, Gao Z, Kong X.   +5 more
europepmc   +1 more source