Found: 97
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Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Nocturnal apnea in Chiari type I malformation.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.
- Published in:
- 2019
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- Publication type:
- journal article
A post hoc study on gene panel analysis for the diagnosis of dystonia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Early onset dystonia and parkinsonism with abnormal globus pallidal signal in MRI: A diagnostic challenge.
- Published in:
- Movement Disorders, 2013, v. 28, n. 14, p. 2035, doi. 10.1002/mds.25622
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- Publication type:
- Article
Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.
- Published in:
- Movement Disorders, 2013, v. 28, n. 10, p. 1439, doi. 10.1002/mds.25515
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- Publication type:
- Article
Longitudinal Course of Long Finger Flexor Shortening in Males with Duchenne Muscular Dystrophy: A Retrospective Review<sup>1</sup>.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 17, doi. 10.3233/JND-221653
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- Publication type:
- Article
Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 641, doi. 10.3233/JND-220803
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- Publication type:
- Article
Neuropathology in classical and variant ataxia-telangiectasia.
- Published in:
- Neuropathology, 2012, v. 32, n. 3, p. 234, doi. 10.1111/j.1440-1789.2011.01263.x
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- Publication type:
- Article
Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Answers.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 7, p. 1171, doi. 10.1007/s00467-016-3515-1
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- Publication type:
- Article
Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Questions.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 7, p. 1169, doi. 10.1007/s00467-016-3494-2
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- Publication type:
- Article
Comparing the evidence for botulinum neurotoxin injections in paediatric anterior drooling: a scoping review.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 1, p. 83, doi. 10.1007/s00431-023-05309-1
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- Publication type:
- Article
Lactate infusion as therapeutical intervention: a scoping review.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 6, p. 2227, doi. 10.1007/s00431-022-04446-3
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- Publication type:
- Article
Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.
- Published in:
- Neurogenetics, 2013, v. 14, n. 1, p. 43, doi. 10.1007/s10048-012-0351-8
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- Publication type:
- Article
Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional <sup>1</sup>H and two-dimensional <sup>1</sup>H-<sup>13</sup>C NMR.
- Published in:
- NMR in Biomedicine, 2005, v. 18, n. 5, p. 331, doi. 10.1002/nbm.966
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- Publication type:
- Article
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
- Published in:
- Journal of Magnetic Resonance Imaging, 2013, v. 37, n. 4, p. 974, doi. 10.1002/jmri.23852
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- Publication type:
- Article
Multisensory Stimulation and Priming (MuSSAP) in 4-10 Months Old Infants with a Unilateral Brain Lesion: A Pilot Randomised Clinical Trial.
- Published in:
- Occupational Therapy International, 2023, p. 1, doi. 10.1155/2023/8128407
- By:
- Publication type:
- Article
De novo SPAST mutations may cause a complex SPG4 phenotype.
- Published in:
- 2019
- By:
- Publication type:
- letter
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 5, p. 895, doi. 10.1002/ana.26477
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- Publication type:
- Article
Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Pulmonary function tests in patients with ataxia-telangiectasia: Obstructive or restrictive lung dysfunction?
- Published in:
- Pediatric Pulmonology, 2010, v. 45, n. 10, p. 1043, doi. 10.1002/ppul.21276
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- Publication type:
- Article
Letter to the editor: Ataxia-Telangiectasia and mechanical ventilation: A word of caution.
- Published in:
- Pediatric Pulmonology, 2009, v. 44, n. 2, p. 202, doi. 10.1002/ppul.20999
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- Publication type:
- Article
Ataxia-Telangiectasia and mechanical ventilation: A word of caution.
- Published in:
- Pediatric Pulmonology, 2009, v. 44, n. 1, p. 101, doi. 10.1002/ppul.20957
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- Publication type:
- Article
Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Experimental treatment of NRAS-mutated neurocutaneous melanocytosis with MEK162, a MEK-inhibitor.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/2051-5960-2-41
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- Publication type:
- Article
Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
- Published in:
- Genes, 2021, v. 12, n. 12, p. 1930, doi. 10.3390/genes12121930
- By:
- Publication type:
- Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
- Published in:
- Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01069-z
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- Publication type:
- Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01069-z
- By:
- Publication type:
- Article
Homozygosity mapping in outbred families with mental retardation.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 597, doi. 10.1038/ejhg.2010.167
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- Publication type:
- Article
Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren-Larsson syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2016, v. 94, n. 7, p. e663, doi. 10.1111/aos.13042
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- Publication type:
- Article
Multimodal imaging of the macula in hereditary and acquired lack of macular pigment.
- Published in:
- Acta Ophthalmologica (1755375X), 2014, v. 92, n. 2, p. 138, doi. 10.1111/aos.12092
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- Publication type:
- Article
A Novel 4 bp Deletion Mutation in the FALDH Gene Segregating in a Turkish Family with Sjögren–Larsson Syndrome.
- Published in:
- Journal of Investigative Dermatology, 1999, v. 112, n. 5, p. 827, doi. 10.1046/j.1523-1747.1999.00574.x
- By:
- Publication type:
- Article
Small Biparietal Diameter and Head Circumference Are Part of the Phenotype instead of Independent Prognostic Markers in Fetuses with Spinal Dysraphism.
- Published in:
- Fetal Diagnosis & Therapy, 2015, v. 37, n. 2, p. 135, doi. 10.1159/000366157
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- Publication type:
- Article
Mongolian Spots in Sjögren-Larsson Syndrome.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Unexplained hypothermia and bradycardia in two pediatric patients with Wegener's granulomatosis.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Growth hormone producing prolactinoma in juvenile cystinosis: a simple coincidence?
- Published in:
- 2008
- By:
- Publication type:
- Report
Classic ataxia-telangiectasia: the phenotype of long-term survivors.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 3, p. 830, doi. 10.1007/s00415-019-09641-1
- By:
- Publication type:
- Article
Exploring the Value of an Assessment for the Professional Coaching of Residents.
- Published in:
- Journal of Graduate Medical Education, 2024, v. 16, n. 4, p. 436, doi. 10.4300/JGME-D-23-00876.1
- By:
- Publication type:
- Article
Cerebrospinal Fluid Glucose and Lactate: Age-Specific Reference Values and Implications for Clinical Practice.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042745
- By:
- Publication type:
- Article
The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02818-y
- By:
- Publication type:
- Article
Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.
- Published in:
- Journal of Perinatal Medicine, 2018, v. 46, n. 5, p. 523, doi. 10.1515/jpm-2017-0187
- By:
- Publication type:
- Article
Oculoectodermal Syndrome -- Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation.
- Published in:
- Acta Dermato-Venereologica, 2020, v. 100, n. 4, p. 1, doi. 10.2340/00015555-3358
- By:
- Publication type:
- Article
Zileuton for Pruritus in Sjögren-Larsson Syndrome: A Randomized Double-blind Placebo-controlled Crossover Trial.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 2, p. 255, doi. 10.2340/00015555-2195
- By:
- Publication type:
- Article
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 6, p. 1, doi. 10.1007/s00018-022-04343-w
- By:
- Publication type:
- Article
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
- Published in:
- 2011
- By:
- Publication type:
- journal article