Results 151 to 160 of about 6,069 (199)

Prenatal Diagnosis of Thanatophoric Dysplasia Type I Based on Classical Ultrasound Findings During Anomaly Scan: A Case Report

Indian Journal of Radiology and Imaging
Rajat Garg, Rashmi Singh
doaj   +1 more source

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances. [PDF]

Biomedicines
Hu J, Xu X, Jiang P, Huang R, Yuan J, Lu L, Han J.   +6 more
europepmc   +1 more source

Exome Sequencing Resolving a Complex Pediatric Neurodevelopmental Disorder After Inconclusive Prenatal Testing: A Case Report. [PDF]

Children (Basel)
Panova M, Ivanov H, Sotkova-Ivanova I.
europepmc   +1 more source

Self-cleavage-dependent and -independent functions of <i>Adgrg1/Gpr56</i> in mice. [PDF]

Proc Natl Acad Sci U S A
Kwarcinski FE, Bernadyn TF, Teuber JP, Nascimento M, Bergin I, Shen T, Gandhi R, Lu X, Brody MJ, Holinstat M, Tall GG.   +10 more
europepmc   +1 more source

Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex. [PDF]

Front Genet
Zhang XF, Wang YJ, Li SX, Liu P, Hu WG.
europepmc   +1 more source

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families. [PDF]

Clin Genet
Archer J, Edwards M, Macdougall T, Baxter A, Goel H.   +4 more
europepmc   +1 more source

Multiple midline brain anomalies in a CMV-exposed fetus with successful surgical management: a case report and literature review. [PDF]

Int J Surg Case Rep
Al Tamimi MF, Abu Aram S, Abueisha M, Maraqah M, Hmedat S, Talahma I.   +5 more
europepmc   +1 more source

Complete seizure freedom following minimally invasive laser callosotomy in a patient with lissencephaly type 1: Challenging the traditional paradigm. [PDF]

Epileptic Disord
Dema A, Baskaran A, Chang J, Nordli D, Warnke P.   +4 more
europepmc   +1 more source

Novel HCFC1 variants identified in patients with ASD/ADHD and previously unreported structural brain malformations reveal the potential for phenotypic expansion. [PDF]

Mol Genet Metab Rep
Castro VL, Palomino CE, O'Shea J, Ames E, Frazier L, Pritchard A, Lesmana H, Rosas-Acosta G, Swann MJ, Quintana AM.   +9 more
europepmc   +1 more source

Epileptogenic lesions in the Australian epilepsy project: A harmonized 3-T magnetic resonance imaging protocol and its diagnostic yield. [PDF]

Epilepsia
Vaughan DN, Abbott DF, Anderson A, Fitt G, Ooi S, Pardoe H, Parker D, Perchyonok Y, Pierre E, Kokkinos C, Smith RE, Stewart M, Tahayori B, Tailby C, Jackson GD, Australian Epilepsy Project Investigators.   +15 more
europepmc   +1 more source