Results 211 to 216 of about 362,871 (216)

How a gene fuels ear infections. [PDF]

Elife
Delmaghani S, El-Amraoui A.
europepmc   +1 more source

Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling. [PDF]

Sci Rep
Yin K, Li M, Zhang H, Chang J, Qi Q, Zhou X, Guo J, Wang Y, Mao X, Hao N, Jiang Y.   +10 more
europepmc   +1 more source

Prenatal diagnosis of imprinted associated chromosome abnormalities identified by noninvasive prenatal testing (NIPT). [PDF]

Sci Rep
Peng H, Wang D, Guo F, Hou Y, Hu T, Du Q, Yang J.   +6 more
europepmc   +1 more source

Unveiling the Genetic Complexity: A Case of 46 XY Disorder of Sex Development Linked to Chromosome 9 Inversion and Its Multidisciplinary Management. [PDF]

Cureus
Jain R P, Aravind S, Palaniyandi V, Sekar H, Krishnamoorthy S.   +4 more
europepmc   +1 more source

Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons. [PDF]

Genes (Basel)
Martinez-Sanchez M, Skarnes W, Jain A, Vemula S, Sun L, Rockowitz S, Whitman MC.   +6 more
europepmc   +1 more source

Hearing Loss and Turner Syndrome: A Scoping Review. [PDF]

J Int Adv Otol
Migliorelli A, Ciorba A, Manuelli M, Corazzi V, Stomeo F, Bianchini C, Pelucchi S, Monzani D, Genovese E, Palma S.   +9 more
europepmc   +1 more source