Results 131 to 140 of about 7,495 (203)

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review. [PDF]

BMC Med Genomics
Ji X, Xu Q, Lu Y, Liu B, Xiao F, Ni Q, Xu S, Liu R, Li G, Wu B, Zhou S, Wang H.   +11 more
europepmc   +1 more source

Lissencephaly

, 2015
openaire   +1 more source

Lissencephaly [PDF]

, 2019
openaire   +1 more source

Rethinking fetal central nervous system anomalies: predicting central nervous system anomalies with corpus callosum to head circumference and occipitofrontal diameter ratios. [PDF]

BMC Pregnancy Childbirth
Duymuş AC, Bozbay N, Kılıç Ş, Yıldırım O, Örgül G, Pekin AT.   +5 more
europepmc   +1 more source

A Case of Neonatal Hypomelanosis of Ito With Early-Onset Refractory Seizures and Cortical Malformations. [PDF]

Cureus
Alassouli YM, Tahir S, Vrushabhendra S, Kashyape P, Thyagarajan M, O E Babiker M.   +5 more
europepmc   +1 more source

Myeloid/lymphoid neoplasm with FLT3 gene fusion: report of a case with a novel t(5;13)(q13;q12) SSBP2::FLT3 fusion. [PDF]

J Hematop
Cook JR, Astbury C, Bosler DS, Molina JC, Rogers HJ, Sobecks RM, Owczarczyk AB.   +6 more
europepmc   +1 more source

Fetal malformations of cortical development: review and clinical guidance. [PDF]

Brain
Russ JB, Agarwal S, Venkatesan C, Scelsa B, Vollmer B, Tarui T, Pardo AC, Lemmon ME, Mulkey SB, Hart AR, Nagaraj UD, Kuller JA, Whitehead MT, Cohen JL, Gebb JS, Glenn OA, Norton ME, Gano D.   +17 more
europepmc   +1 more source

Bridging the anatomical gap: evolutionary conservation of genetic mechanisms in corpus callosum disorders across human, mouse, and zebrafish. [PDF]

Front Mol Neurosci
Ayushma, Srivastava PP, Minocha S.
europepmc   +1 more source

Understanding the Molecular Basis of Miller-Dieker Syndrome. [PDF]

Int J Mol Sci
Mahendran G, Brown JA.
europepmc   +1 more source