Found: 40
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Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights.
- Published in:
- Degenerative Neurological & Neuromuscular Disease, 2016, v. 6, p. 73, doi. 10.2147/DNND.S111967
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- Publication type:
- Article
Pain coping and catastrophizing in youth with and without cerebral palsy.
- Published in:
- Scandinavian Journal of Pain, 2024, v. 24, n. 1, p. 1, doi. 10.1515/sjpain-2023-0062
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- Publication type:
- Article
Gamma-Aminobutyric Acid Concentration in Lumbar Cerebrospinal Fluid from Patients with Febrile Convulsions and Controls.
- Published in:
- Acta Paediatrica, 1990, v. 79, n. 11, p. 1092, doi. 10.1111/j.1651-2227.1990.tb11389.x
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- Publication type:
- Article
Prevalence, incidence, and age at diagnosis in Marfan Syndrome.
- Published in:
- 2015
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- Publication type:
- journal article
Perspective having a Centre of Expertise that covers more than one rare disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. O2, doi. 10.1186/1750-1172-9-S1-O2
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- Publication type:
- Article
Collagen type III deficiency in patients with rupture of intracranial saccular aneurysms.
- Published in:
- Journal of Neurosurgery, 1987, v. 67, n. 5, p. 690, doi. 10.3171/jns.1987.67.5.0690
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- Publication type:
- Article
Diagnostic practice of psychogenic nonepileptic seizures ( PNES) in the pediatric setting.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 1, p. 58, doi. 10.1111/epi.12881
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- Publication type:
- Article
Letter.
- Published in:
- 2022
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- Publication type:
- Letter
Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register‐based cohort study.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3706, doi. 10.1002/ajmg.a.62436
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- Publication type:
- Article
Do individuals with Angelman syndrome have a maladaptive behavior?
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2317, doi. 10.1002/ajmg.a.61346
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- Publication type:
- Article
Nance-Horan syndrome-The oral perspective on a rare disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 88, doi. 10.1002/ajmg.a.37963
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- Publication type:
- Article
Phenotype of a child with Angelman syndrome born to a woman with Prader-Willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2138, doi. 10.1002/ajmg.a.37080
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- Publication type:
- Article
Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2197, doi. 10.1002/ajmg.a.36058
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- Publication type:
- Article
Normal Cortisol Response to High-Dose Synacthen and Insulin Tolerance Test in Children and Adults with Prader-Willi Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 1, p. E173, doi. 10.1210/jc.2010-0782
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- Publication type:
- Article
Epilepsy and pregnancy: effect of antiepileptic drugs and lifestyle on birthweight.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2000, v. 107, n. 7, p. 896, doi. 10.1111/j.1471-0528.2000.tb11089.x
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- Publication type:
- Article
Pacemaker Implantation in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)–A Long-Term Follow-Up Study.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.846240
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- Publication type:
- Article
Isolated CHDs and neurodevelopmental follow-up using the Bayley Scales of Infant and Toddler Development and the Ages and Stages Questionnaire at 18 and 36 months.
- Published in:
- Cardiology in the Young, 2022, v. 32, n. 3, p. 390, doi. 10.1017/S1047951121002195
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- Publication type:
- Article
Prenatal Exposure to Antiepileptic Drugs and Dental Agenesis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084420
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- Publication type:
- Article
Developmental Enamel Defects in Children Prenatally Exposed to Anti-Epileptic Drugs.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058213
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- Publication type:
- Article
Constipation in adults with neurofibromatosis type 1.
- Published in:
- 2017
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- Publication type:
- journal article
Impact of child and family characteristics on cerebral palsy treatment.
- Published in:
- Developmental Medicine & Child Neurology, 2015, v. 57, n. 10, p. 948, doi. 10.1111/dmcn.12791
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- Publication type:
- Article
Employment, occupation, and income in adults with neurofibromatosis 1 in Denmark: a population- and register-based cohort study.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02965-2
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- Publication type:
- Article
Endocrine morbidity in neurofibromatosis 1: a nationwide, register-based cohort study.
- Published in:
- European Journal of Endocrinology, 2023, v. 189, n. 2, p. 190, doi. 10.1093/ejendo/lvad101
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- Publication type:
- Article
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. 2506, doi. 10.1093/brain/aws172
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- Publication type:
- Article
In vivo Diagnosis of Hollervorden-Spatz Disease.
- Published in:
- Developmental Medicine & Child Neurology, 1995, v. 37, n. 9, p. 827, doi. 10.1111/j.1469-8749.1995.tb12066.x
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- Publication type:
- Article
Treatment of non-epileptic episodes of anxious, fearful behavior in adolescent juvenile neuronal ceroid lipofuscinosis (CLN3 disease).
- Published in:
- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1216861
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- Publication type:
- Article
Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1061363
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- Publication type:
- Article
Limited Clinical Application and Concerns of Bias in Long-term Risk of Epilepsy, Psychiatric Disorders, and Mortality Following Febrile Seizures.
- Published in:
- 2020
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- Publication type:
- Letter
Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-87686-x
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- Publication type:
- Article
Developmental enamel defects in children born preterm: a systematic review.
- Published in:
- European Journal of Oral Sciences, 2014, v. 122, n. 1, p. 7, doi. 10.1111/eos.12094
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- Publication type:
- Article
Moyamoya Angiopathy with Dolichoectatic Internal Carotid Arteries, Patent Ductus arteriosus and Pupillary Dysfunction: A New Genetic Syndrome?
- Published in:
- European Neurology, 2004, v. 51, n. 2, p. 72, doi. 10.1159/000076248
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- Publication type:
- Article
Gastrointestinal Symptoms in Children and Adolescents With Neurofibromatosis Type 1.
- Published in:
- 2018
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- Publication type:
- journal article
Autism in Angelman syndrome.
- Published in:
- Autism: The International Journal of Research & Practice, 2004, v. 8, n. 2, p. 163, doi. 10.1177/1362361304042720
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- Publication type:
- Article
Hospital-Diagnosed Pertussis Infection in Children and Long-term Risk of Epilepsy.
- Published in:
- 2015
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- Publication type:
- journal article
Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement.
- Published in:
- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206932
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- Publication type:
- Article
Teenagers and young adults with neurofibromatosis type 1 are more likely to experience loneliness than siblings without the illness.
- Published in:
- Acta Paediatrica, 2015, v. 104, n. 6, p. 604, doi. 10.1111/apa.12946
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- Publication type:
- Article
Early childhood-onset restless legs syndrome: symptoms and effect of oral iron treatment.
- Published in:
- Acta Paediatrica, 2013, v. 102, n. 5, p. e221, doi. 10.1111/apa.12173
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- Publication type:
- Article
Febrile seizures.
- Published in:
- Acta Paediatrica, 2009, v. 98, n. 5, p. 771, doi. 10.1111/j.1651-2227.2009.01200.x
- By:
- Publication type:
- Article
Bone Geometry, Density, and Microarchitecture in the Distal Radius and Tibia in Adults With Marfan Syndrome Assessed by HR‐pQCT.
- Published in:
- Journal of Bone & Mineral Research, 2020, v. 35, n. 12, p. 2335, doi. 10.1002/jbmr.4138
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- Publication type:
- Article
Altered PLP1 splicing causes hypomyelination of early myelinating structures.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 6, p. 648, doi. 10.1002/acn3.203
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- Publication type:
- Article