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1.
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Am J Hum Genet
; 110(1): 146-160, 2023 01 05.
Article
in English
| MEDLINE | ID: mdl-36608681
2.
Amide proton transfer weighted imaging in pediatric neuro-oncology: initial experience.
NMR Biomed
; 37(6): e5122, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38369653
3.
Improving advanced intraoperative MRI methods during pediatric neurosurgery.
NMR Biomed
; 37(6): e5124, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38403798
4.
Additional Value of 3-Month Cranial Magnetic Resonance Imaging in Infants with Neonatal Encephalopathy following Perinatal Asphyxia.
J Pediatr
; 258: 113402, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37019329
5.
Mammillary body abnormalities and cognitive outcomes in children cooled for neonatal encephalopathy.
Dev Med Child Neurol
; 65(6): 792-802, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36335569
6.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Article
in English
| MEDLINE | ID: mdl-31735293
7.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Article
in English
| MEDLINE | ID: mdl-31495489
8.
Hypoglycemia in Infants with Hypoxic-Ischemic Encephalopathy Is Associated with Additional Brain Injury and Worse Neurodevelopmental Outcome.
J Pediatr
; 245: 30-38.e1, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35120986
9.
MRI Characteristics of Pediatric Renal Tumors: A SIOP-RTSG Radiology Panel Delphi Study.
J Magn Reson Imaging
; 55(2): 543-552, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34363274
10.
Mammillary body injury in neonatal encephalopathy: a multicentre, retrospective study.
Pediatr Res
; 92(1): 174-179, 2022 07.
Article
in English
| MEDLINE | ID: mdl-33654286
11.
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
J Pathol
; 255(2): 202-211, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34231212
12.
Refractory Stage M Ganglioneuroblastoma With Bone Metastases and a Favorable, Chronic Course of Disease: Description of a Patient Cohort.
J Pediatr Hematol Oncol
; 44(1): e5-e13, 2022 01 01.
Article
in English
| MEDLINE | ID: mdl-33885033
13.
Imaging features of hepatic sinusoidal obstruction syndrome or veno-occlusive disease in children.
Pediatr Radiol
; 52(1): 122-133, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34729635
14.
Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?
J Inherit Metab Dis
; 44(3): 751-762, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33330992
15.
Body composition of patients with neuroblastoma using computed tomography.
Pediatr Blood Cancer
; 68(12): e29337, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34606163
16.
Definitions and classification of malformations of cortical development: practical guidelines.
Brain
; 143(10): 2874-2894, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32779696
17.
Atypical neuroimaging characteristics of hemophagocytic lymphohistiocytosis in infants: a case series of hemorrhagic brain lesions in the deep grey matter.
Neuroradiology
; 63(2): 285-288, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-33156371
18.
Modelling growth curves of the normal infant's mandible: 3D measurements using computed tomography.
Clin Oral Investig
; 25(11): 6365-6375, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-33864148
19.
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
PLoS Genet
; 13(5): e1006809, 2017 May.
Article
in English
| MEDLINE | ID: mdl-28542170
20.
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
PLoS Genet
; 13(8): e1006923, 2017 Aug.
Article
in English
| MEDLINE | ID: mdl-28763441