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Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Computed diffusion-weighted imaging for acute pediatric encephalitis/encephalopathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Rasmussen encephalitis associated with SCN1A mutation.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 3, p. 521, doi. 10.1111/j.1528-1167.2007.01411.x
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- Publication type:
- Article
An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Potentiality of Evaluating Flash Electroretinography with a Montage of Skin Electrodes Connecting the Inner Canthus to the Ear in Younger Children: A Pilot Study.
- Published in:
- Yonago Acta Medica, 2024, v. 67, n. 3, p. 280, doi. 10.33160/yam.2024.08.013
- By:
- Publication type:
- Article
Microduplication of SCN2A Gene in a Child with Drug-Resistant Epilepsy and Developmental/Epileptic Encephalopathy with Spike Wave Activation During Sleep.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
The Impact of Simulation-Based Training on Self-Efficacy in Sedation for Pediatric Magnetic Resonance Imaging.
- Published in:
- Yonago Acta Medica, 2024, v. 67, n. 2, p. 108, doi. 10.33160/yam.2024.05.002
- By:
- Publication type:
- Article
Restricted Diffusion in the Bilateral Subcortical Motor Areas Associated with Status Epilepticus in an Infant with Kawasaki Disease.
- Published in:
- Yonago Acta Medica, 2023, v. 66, n. 4, p. 471, doi. 10.33160/yam.2023.11.011
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- Publication type:
- Article
Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant.
- Published in:
- Yonago Acta Medica, 2023, v. 66, n. 4, p. 463, doi. 10.33160/yam.2023.11.005
- By:
- Publication type:
- Article
Phase Lag Analysis Scalp Electroencephalography May Predict Seizure Frequencies in Patients with Childhood Epilepsy with Centrotemporal Spikes.
- Published in:
- Yonago Acta Medica, 2023, v. 66, n. 1, p. 48, doi. 10.33160/yam.2023.02.006
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- Publication type:
- Article
Predicting Mathematical Learning Difficulties Using Fundamental Calculative Ability Test (FCAT).
- Published in:
- Yonago Acta Medica, 2022, v. 65, n. 3, p. 238, doi. 10.33160/yam.2022.08.010
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- Publication type:
- Article
Psychological Preparations Affecting the Emotions of Children with Developmental Disorders Toward Hospitals.
- Published in:
- Yonago Acta Medica, 2021, v. 64, n. 1, p. 92, doi. 10.33160/yam.2021.02.012
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- Publication type:
- Article
Clinical Characteristics of Fragile X Syndrome Patients in Japan.
- Published in:
- Yonago Acta Medica, 2021, v. 64, n. 1, p. 30, doi. 10.33160/yam.2021.02.005
- By:
- Publication type:
- Article
Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation.
- Published in:
- Yonago Acta Medica, 2019, v. 62, n. 1, p. 159, doi. 10.33160/yam.2019.03.022
- By:
- Publication type:
- Article
Decreased Wave V Amplitude in Auditory Brainstem Responses of Children with Cerebellar Lesions.
- Published in:
- Yonago Acta Medica, 2018, v. 61, n. 4, p. 220, doi. 10.33160/yam.2018.12.005
- By:
- Publication type:
- Article
Risk factors for acute pancreatitis in patients with severe motor and intellectual disabilities.
- Published in:
- Pediatrics International, 2014, v. 56, n. 2, p. 240, doi. 10.1111/ped.12231
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- Publication type:
- Article
Late-onset, unusual neurological symptoms in children with mycoplasma infection.
- Published in:
- Pediatrics International, 2009, v. 51, n. 4, p. 579, doi. 10.1111/j.1442-200X.2009.02871.x
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- Publication type:
- Article
Reappearance of visual and somatosensory evoked potentials in a patient with childhood adrenoleukodystrophy after bone marrow transplantation and dietary erucic acid therapy.
- Published in:
- Pediatrics International, 1995, v. 37, n. 1, p. 125, doi. 10.1111/j.1442-200X.1995.tb03705.x
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- Publication type:
- Article
An early-onset case of multiple sclerosis with thalamic lesions on MRI.
- Published in:
- Pediatrics International, 1994, v. 36, n. 4, p. 431, doi. 10.1111/j.1442-200X.1994.tb03217.x
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- Publication type:
- Article
A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 3, p. 155, doi. 10.1038/jhg.2010.1
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- Publication type:
- Article
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 415, doi. 10.1002/ajmg.a.36304
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- Publication type:
- Article
Predicting the Onset of Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion by Using Early Laboratory Data.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.730535
- By:
- Publication type:
- Article
Long-term prognosis of epilepsy in patients with cerebral palsy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Congenital mirror movement: a study of functional MRI and transcranial magnetic stimulation.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Symmetry of ictal slow waves may predict the outcomes of corpus callosotomy for epileptic spasms.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-56303-3
- By:
- Publication type:
- Article
Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.
- Published in:
- BMC Research Notes, 2014, v. 7, n. 1, p. 465, doi. 10.1186/1756-0500-7-465
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- Publication type:
- Article
The process by which mothers of children with special healthcare needs evolve their connections with the community.
- Published in:
- Nursing & Health Sciences, 2021, v. 23, n. 4, p. 957, doi. 10.1111/nhs.12887
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- Publication type:
- Article
A novel neurological disorder with progressive CNS calcification, deafness/ renal tubular acidosis, and microcytic anemia.
- Published in:
- Developmental Medicine & Child Neurology, 1997, v. 39, n. 3, p. 198, doi. 10.1111/j.1469-8749.1997.tb07410.x
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- Publication type:
- Article
Early phase 2 trial of TAS‐205 in patients with Duchenne muscular dystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 2, p. 181, doi. 10.1002/acn3.50978
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- Publication type:
- Article
Prediction model for long-term seizure and developmental outcomes among children with infantile epileptic spasms syndrome.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1195252
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- Publication type:
- Article
Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2.
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- Frontiers in Neuroscience, 2023, v. 17, p. 1, doi. 10.3389/fnins.2023.1085082
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- Publication type:
- Article
Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00194-w
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- Publication type:
- Article
Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0099-x
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- Publication type:
- Article
Diagnosing Autism Spectrum Disorder Without Expertise: A Pilot Study of 5- to 17-Year-Old Individuals Using Gazefinder.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.603085
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- Publication type:
- Article
Phase Lag Analyses on Ictal Scalp Electroencephalography May Predict Outcomes of Corpus Callosotomy for Epileptic Spasms.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.576087
- By:
- Publication type:
- Article
Insufficient Efficacy of Corpus Callosotomy for Epileptic Spasms With Biphasic Muscular Contractions.
- Published in:
- Frontiers in Neurology, 2020, p. N.PAG, doi. 10.3389/fneur.2020.00232
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- Publication type:
- Article
c-jun is differentially expressed in embryonic and adult neural precursor cells.
- Published in:
- Histochemistry & Cell Biology, 2017, v. 147, n. 6, p. 721, doi. 10.1007/s00418-016-1536-2
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- Publication type:
- Article
Blink Reflex in Cerebral Palsy: Evaluation of Late Components in Patients With Normal Auditory Brainstem Responses.
- Published in:
- Journal of Child Neurology, 1996, v. 11, n. 3, p. 205, doi. 10.1177/088307389601100308
- By:
- Publication type:
- Article
Developing a mouse model of acute encephalopathy using low-dose lipopolysaccharide injection and hyperthermia treatment.
- Published in:
- Experimental Biology & Medicine, 2019, v. 244, n. 9, p. 743, doi. 10.1177/1535370219846497
- By:
- Publication type:
- Article
Influence of gender on diaphragm thickness using a method for determining intima media thickness in healthy young adults.
- Published in:
- BMC Medical Imaging, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12880-022-00748-y
- By:
- Publication type:
- Article
De Novo Mutations in SLC35 A2 Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy.
- Published in:
- Human Mutation, 2013, v. 34, n. 12, p. 1708, doi. 10.1002/humu.22446
- By:
- Publication type:
- Article
Developmental changes in attention to social information from childhood to adolescence in autism spectrum disorders: a comparative study.
- Published in:
- Molecular Autism, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13229-020-00321-w
- By:
- Publication type:
- Article
Impact of clinical clerkship integrated with clinical ladder on attending physicians' teaching self-efficacy.
- Published in:
- BMC Medical Education, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12909-024-05396-0
- By:
- Publication type:
- Article
Successful perioperative preparation of a child with autism spectrum disorder in collaboration with his school for special needs education: a case report.
- Published in:
- Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2023.1162833
- By:
- Publication type:
- Article