Results 241 to 250 of about 453,665 (301)

Long-read genome sequencing enhances diagnostics of pediatric neurological disorders. [PDF]

Genome Med
Ek M, Kvarnung M, Ten Berk de Boer E, La Fleur L, Ljöstad L, Lyander A, Faergeman SL, Drue SO, Thonberg H, Nordgren A, Soller MJ, Wirta V, Eisfeldt J, Lindstrand A.   +13 more
europepmc   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Fertility issues and pregnancy outcomes in females with partial X-chromosome deletions: a retrospective observational cohort study. [PDF]

BMC Pregnancy Childbirth
Li XT, Dai Y, Chen JY, Cai MJ, Yao XM, Ge YS.   +5 more
europepmc   +1 more source

Optical genome mapping of a complex structural rearrangement family line on chromosome 18. [PDF]

Hereditas
Cai L, Jiang Y, Zhang N, Chen X.
europepmc   +1 more source

22q11.2 Deletion Syndrome in Offspring Conceived via Assisted Reproductive Technology Versus Spontaneously. [PDF]

Genes (Basel)
Borowka J, Crowley TB, Mani A, Guinta V, McGinn DE, Wang B, Green A, Rockart L, Tran O, Emanuel BS, Zackai EH, Dugoff L, Valverde K, McDonald-McGinn DM.   +13 more
europepmc   +1 more source

Detection of structural DNA variants in medulloblastomas using optical genome mapping. [PDF]

Acta Neuropathol Commun
Kubon N, Bălan M, Koppstein D, Praeger S, Wolter M, Ebert P, Pauck D, Felsberg J, Beez T, Picard D, Remke M, Reifenberger G.   +11 more
europepmc   +1 more source

Atypical case of Rett syndrome with concurrent <i>MECP2</i> gene mutation and del(15)(q22qter) karyotype: A case report and review of literature. [PDF]

World J Clin Pediatr
Fadl-Elmula I, Abdel-Raheem SY, Khalid R.   +2 more
europepmc   +1 more source

[Deletion of chromosome 18].

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1973
P, Vesterhus, D, Aarskog
openaire   +1 more source