Results 241 to 250 of about 237,429 (310)

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review. [PDF]

Front Pediatr
Zhang Y, Shi X, Xiao X, Yuan S, Tang J.
europepmc   +1 more source

The human X chromosome in sexual differentiation and reproduction: is the X still “sexy”?

Ancelin K, Somasundaram P, Galupa R.
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline. [PDF]

Am J Med Genet A
Helle K, Bengtsson JD, Gandhi M, Grochowski CM, Lun MY, Sudhir N, Jhangiani SN, Sedlazeck FJ, Lalani SR, Hanchard NA, Carvalho CMB.   +10 more
europepmc   +1 more source