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Hearing Instability in Children with Congenital Cytomegalovirus: Evidence and Neural Consequences

The Laryngoscope, 2022-09, Vol.132 (S11), p.S1-S24

2022

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Vestibular and balance function is often impaired in children with profound unilateral sensorineural hearing loss

Hearing research, 2019-02, Vol.372, p.52-61

2019

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Cranioorbital Morphology Caused by Coronal Ring Suture Synostosis

Plastic and reconstructive surgery (1963), 2019-12, Vol.144 (6), p.1403

2019

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Abusive head trauma: neuroimaging mimics and diagnostic complexities

Pediatric radiology, 2021-05, Vol.51 (6), p.947-965

2021

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Cochlear Implantation: Systematic Approach to Preoperative Radiologic Evaluation

Radiographics, 2023-04, Vol.43 (4), p.e220102-e220102

2023

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Cerebral oxygen delivery is reduced in newborns with congenital heart disease

The Journal of thoracic and cardiovascular surgery, 2016-10, Vol.152 (4), p.1095-1103

2016

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An unusually mild case of biotin-thiamine-responsive basal ganglia disease

Molecular genetics and metabolism reports, 2023-12, Vol.37, p.101004, Article 101004

2023

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Switching on the fluorescence of 2-aminopurine by site-selective microhydration

Nature chemistry, 2014-11, Vol.6 (11), p.989

2014

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Neonatal neuroimaging findings in inborn errors of metabolism

Journal of magnetic resonance imaging, 2013-02, Vol.37 (2), p.294-312

2013

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Corpus callosum abnormalities: neuroradiological and clinical correlations

Developmental medicine and child neurology, 2016-05, Vol.58 (5), p.475-484

2016

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Ectopic cervical thymus in children: Clinical and radiographic features

The Laryngoscope, 2020-06, Vol.130 (6), p.1577-1582

2020

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Efficacy of a selective imaging paradigm prior to pediatric cochlear implantation

The Laryngoscope, 2019-11, Vol.129 (11), p.2627-2633

2019

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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Genetics in medicine, 2019-04, Vol.21 (4), p.1021-1026

2019

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Skull base development and craniosynostosis

Pediatric Radiology, 2015-09, Vol.45 (Suppl 3), p.485-496

2015

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BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature

Journal of neuropathology and experimental neurology, 2018-12, Vol.77 (12), p.1071-1078

2018

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The link between inner ear malformations and the rest of the body: what we know so far about genetic, imaging and histology

Neuroradiology, 2020-05, Vol.62 (5), p.539-544

2020

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Locating Cytosine Conical Intersections by Laser Experiments and Ab Initio Calculations

The journal of physical chemistry letters, 2020-05, Vol.11 (9), p.3203-3210

2020

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Occipital lobe injury and cortical visual outcomes after neonatal hypoglycemia

Pediatrics (Evanston), 2008-09, Vol.122 (3), p.507

2008

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P272: Novel biallelic missense variants in C2orf69 cause combined oxidative phosphorylation deficiency type 53 (COXPD53), associated with early-onset neurodegeneration and autoinflammation

Genetics in Medicine Open, 2024, Vol.2, p.101168

2024

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Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.182-187

2012

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Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

EMBO molecular medicine, 2021-05, Vol.13 (5), p.e13258-n/a

2021

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Neurological complications of cardio‐facio‐cutaneous syndrome

Developmental medicine and child neurology, 2007-12, Vol.49 (12), p.894-899

2007

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Children with unilateral cochlear nerve canal stenosis have bilateral cochleovestibular anomalies

The Laryngoscope, 2019-10, Vol.129 (10), p.2403-2408

2019

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The Pediatric Cerebellum in Inherited Neurodegenerative Disorders: A Pattern-recognition Approach

Neuroimaging clinics of North America, 2016-08, Vol.26 (3), p.373

2016

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Hearing Instability in Children with Congenital Cytomegalovirus: Evidence and Neural Consequences

Vestibular and balance function is often impaired in children with profound unilateral sensorineural hearing loss

Cranioorbital Morphology Caused by Coronal Ring Suture Synostosis

Abusive head trauma: neuroimaging mimics and diagnostic complexities

Cochlear Implantation: Systematic Approach to Preoperative Radiologic Evaluation

Cerebral oxygen delivery is reduced in newborns with congenital heart disease

An unusually mild case of biotin-thiamine-responsive basal ganglia disease

Switching on the fluorescence of 2-aminopurine by site-selective microhydration

Neonatal neuroimaging findings in inborn errors of metabolism

Corpus callosum abnormalities: neuroradiological and clinical correlations

Ectopic cervical thymus in children: Clinical and radiographic features

Efficacy of a selective imaging paradigm prior to pediatric cochlear implantation

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Skull base development and craniosynostosis

BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature

The link between inner ear malformations and the rest of the body: what we know so far about genetic, imaging and histology

Locating Cytosine Conical Intersections by Laser Experiments and Ab Initio Calculations

Occipital lobe injury and cortical visual outcomes after neonatal hypoglycemia

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration

P272: Novel biallelic missense variants in C2orf69 cause combined oxidative phosphorylation deficiency type 53 (COXPD53), associated with early-onset neurodegeneration and autoinflammation

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

Neurological complications of cardio‐facio‐cutaneous syndrome

Children with unilateral cochlear nerve canal stenosis have bilateral cochleovestibular anomalies

The Pediatric Cerebellum in Inherited Neurodegenerative Disorders: A Pattern-recognition Approach

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