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Neuroradiology|October 5, 2022
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort studyAna Filipa Geraldo, Cesar Augusto P F Alves, Aysha Luis, et al.
European Journal of Medical Genetics|March 25, 2026
Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypesMohammad Sadegh Shams Nosrati, Ferruccio Romano, Alireza Dostmohammadi, et al.
Cancer Letters|June 10, 2011
Loss of 10q26.1-q26.3 in association with 7q34-q36.3 gain or 17q24.3-q25.3 gain predict poor outcome in pediatric medulloblastomaAnnalisa Pezzolo, Simona Coco, Alessandro Raso, et al.
Oncotarget|July 5, 2016
TP53 codon 72 polymorphism may predict early tumour progression in paediatric pilocytic astrocytomaSamantha Mascelli, Paolo Nozza, David T W Jones, et al.
Birth Defects Research|June 18, 2022
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature reviewFerruccio Romano, Mariateresa Falco, Gerarda Cappuccio, et al.
American Journal of Medical Genetics. Part A|April 20, 2017
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experienceClaudia Santoro, Federico Di Rocco, Manoelle Kossorotoff, et al.
Human Mutation|December 31, 2025
The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital MyopathyNami Altin, Kamel Mamchaoui, Jessica Ohana, et al.
AJNR. American Journal of Neuroradiology|February 15, 2024
International Consensus Statement on the Radiological Evaluation of Dysraphic Malformations of the Spine and Spinal CordAnkit Balani, Jai Sidpra, Sniya Sudhakar, et al.
European Journal of Human Genetics : EJHG|March 26, 2025
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcificationsMarcello Scala, Nancy C P Leong, Thanh Nha Uyen Le, et al.
Communications Biology|July 6, 2026
KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse modelYeonsoo Oh, Youngha Lee, Hoyong Jin, et al.
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