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1.
The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability.
Am J Med Genet A
; 191(12): 2890-2897, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37654102
2.
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.
Am J Med Genet A
; 185(11): 3502-3506, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34405953
3.
Soft Tissue Lesions With High Vascular Density on Sonography in Pediatric Patients: Beyond Hemangiomas [Formula: see text].
Can Assoc Radiol J
; 71(4): 505-513, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-32054306
4.
Whole-Body Diffusion-Weighted MRI Compared to 18 FFDG PET/CT in Initial Staging and Therapy Response Assessment of Hodgkin Lymphoma in Pediatric Patients.
Can Assoc Radiol J
; 71(2): 217-225, 2020 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-32062992
5.
Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.
Clin Genet
; 95(5): 601-606, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30790272
6.
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
Am J Med Genet A
; 194(4): e63485, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38050708
7.
Biodegradation patterns of the endocrine disrupting pollutant di(2-ethyl hexyl) phthalate by Fusarium culmorum.
Ecotoxicol Environ Saf
; 170: 293-299, 2019 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30530181
8.
Current concepts in radiologic assessment of pediatric brain tumors during treatment, part 1.
Pediatr Radiol
; 48(13): 1833-1843, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29980859
9.
A novel biodegradation pathway of the endocrine-disruptor di(2-ethyl hexyl) phthalate by Pleurotus ostreatus based on quantum chemical investigation.
Ecotoxicol Environ Saf
; 147: 494-499, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-28915396
10.
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 101-109, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-29152901
11.
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
Hum Mol Genet
; 24(22): 6293-300, 2015 Nov 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-26307080
12.
Prevalence and risk factors for non-alcoholic fatty liver in children and youth with obesity.
BMC Pediatr
; 17(1): 113, 2017 04 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-28446162
13.
Thrombolysis in a Child with Acute Arterial Ischemic Stroke without Large Vessel Occlusion.
Can J Neurol Sci
; 47(2): 275-277, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31915080
14.
MR Enterography Scores Correlate with Degree of Mucosal Healing in Pediatric Crohn's Disease: A Pilot Study.
J Can Assoc Gastroenterol
; 6(3): 125-130, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37273972
15.
Brain Point of Care Ultrasound in Young Children Receiving Computed Tomography in the Emergency Department: A Proof of Concept Study.
POCUS J
; 8(2): 165-169, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38099165
16.
Strength and Microstructure Assessment of Partially Replaced Ordinary Portland Cement and Calcium Sulfoaluminate Cement with Pozzolans and Spent Coffee Grounds.
Materials (Basel)
; 16(14)2023 Jul 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-37512280
17.
Is horseshoe lung a component of VACTERL spectrum? Case report and review of literature.
Radiol Case Rep
; 17(5): 1558-1562, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35282320
18.
A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria.
Genes (Basel)
; 14(1)2022 12 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-36672848
19.
White Button Mushroom (Agaricus bisporus) Supplementation Ameliorates Spatial Memory Deficits and Plaque Formation in an Amyloid Precursor Protein Mouse Model of Alzheimer's Disease.
Brain Sci
; 12(10)2022 Oct 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36291298
20.
Development and Validation of a Pediatric MRI-Based Perianal Crohn Disease (PEMPAC) Index-A Report from the ImageKids Study.
Inflamm Bowel Dis
; 28(5): 700-709, 2022 05 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34151950