Results 141 to 150 of about 8,041 (202)

Neuropathological findings of very low-density lipoprotein receptor-related cerebellar hypoplasia in a full-term fetus. [PDF]

J Neuropathol Exp Neurol
Newman JM, Vogel H.
europepmc   +1 more source

Temporal trends in the clinical presentation, management, and outcomes of children with congenital cytomegalovirus infection. [PDF]

Eur J Pediatr
Bolchová J, Gkentzi D, Tomé RP, Syridou G, Noguera-Julián A, Ríos-Barnés M, Salomé S, Raimondi F, Villaverde S, Baquero-Artigao F, Rodriguez-Molino P, Buonsenso D, Martino L, Álvarez-Vallejo B, Saavedra J, Fougere Y, Lyall H, Foulon I, Buxmann H, Zanette S, Tsiatsiou O, Wan J, Blázquez-Gamero D, Papaevangelou V, cCMVnet Registry Study Group.   +24 more
europepmc   +1 more source

Subcortical band heterotopia in a child with new-onset seizures: A case report. [PDF]

Epilepsy Behav Rep
Shukralla NA, Hunde WM, Tibebe M, Dida MK.   +3 more
europepmc   +1 more source

A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing. [PDF]

Hum Genome Var
Suga K, Sato H, Suzue M, Honma Y, Hayabuchi Y, Nakagawa R, Shinomiya K, Okamoto N, Inoue Y, Tsuchida N, Matsumoto N, Morino H, Izumi Y, Urushihara M.   +13 more
europepmc   +1 more source

Role of Ultrasound and Fetal MRI in the Prenatal Assessment of Congenital Cytomegalovirus Infection: A Systematic Review. [PDF]

J Clin Med
Stefanska K, Berbeka K, Madej D, Witkowski P, Rybak-Krzyszkowska M, Sawicki S, Illa M.   +6 more
europepmc   +1 more source

The Role of Prenatal Neurosonography in Identification of Tubulinopathy-Narrative Review. [PDF]

Life (Basel)
Berbeka K, Stefańska K, Świetlicki A, Filipecka-Tyczka D, Rybak-Krzyszkowska M, Illa M.   +5 more
europepmc   +1 more source

Bridging the gap: an emerging link between tubulinopathies and ciliopathies. [PDF]

NPJ Genom Med
Steiman S, Omer S, Pastore S, Ivakine EA.   +3 more
europepmc   +1 more source

Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features. [PDF]

Epileptic Disord
Kalampokini S, Pityrigkas E, Liouta E, Pepe G, Poulidou V, Spilioti M, Kimiskidis VK.   +6 more
europepmc   +1 more source

Chorioretinitis Scarring in a Neonate Secondary to Congenital Herpes Simplex Type 2. [PDF]

J Vitreoretin Dis
Park KE, Schroeder C, Snyder C, Levy ML, Harper CA.   +4 more
europepmc   +1 more source

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