Results 201 to 210 of about 13,805 (257)

A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features. [PDF]

Genes (Basel)
Saidin A, Papazovska Cherepnalkovski A, Shaukat Z, Arsov T, Hussain R, Roberts BJ, Bucat M, Cogelja K, Ricos MG, Dibbens LM.   +9 more
europepmc   +1 more source

Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods. [PDF]

Am J Med Genet A
Kim SY, Wohler E, Gutierrez MJ, Sadreameli C, Kossoff E, Sobreira NL.   +5 more
europepmc   +1 more source

Prenatally and postnatally sequential genetic etiology detection in corpus callosum abnormalities. [PDF]

Sci Rep
Xue H, Yu A, Zheng L, Ye X, Zhang L, Guo Q, Chen L, Shen Q, Lin N, Huang H, Xu L.   +10 more
europepmc   +1 more source

Ultrasound features of congenital cytomegalovirus infection in the first trimester: A case report.

World J Clin Cases
Chen XL, Zhang LQ, Bai LL.
europepmc   +1 more source

Radial glia progenitor polarity in health and disease. [PDF]

Front Cell Dev Biol
Viola V, Chinnappa K, Francis F.
europepmc   +1 more source

Lissencephaly type II

Arlene Campos, Iman Mohammad
openalex   +1 more source

Excess Wnt in neurological disease. [PDF]

Biochem J
Pascual DM, Jebreili Rizi D, Kaur H, Marcogliese PC.   +3 more
europepmc   +1 more source

Lissencephaly - type 1

Ammar Haouimi
openalex   +1 more source

Case Report: A case of complex cortical dysplasia with central precocious puberty onset. [PDF]

Front Pediatr
Guo C, Chen C, Wang X, Lin K, Guo J, Ge P.   +5 more
europepmc   +1 more source