Found: 45
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Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene.
- Published in:
- Movement Disorders, 2009, v. 24, n. 6, p. 943, doi. 10.1002/mds.22455
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- Publication type:
- Article
Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.
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- Movement Disorders, 2006, v. 21, n. 2, p. 263, doi. 10.1002/mds.20699
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- Publication type:
- Article
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
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- Movement Disorders, 2005, v. 20, n. 10, p. 1366, doi. 10.1002/mds.20593
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- Publication type:
- Article
Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation (A videotape accompanies this article.).
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- Movement Disorders, 2004, v. 19, n. 3, p. 344, doi. 10.1002/mds.10660
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- Publication type:
- Article
Semaphorin 7A: A novel marker of disease activity in Gaucher disease.
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- American Journal of Hematology, 2020, v. 95, n. 5, p. 483, doi. 10.1002/ajh.25744
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- Article
Effect of velaglucerase alfa enzyme replacement therapy on red blood cell properties in Gaucher disease.
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- American Journal of Hematology, 2017, v. 92, n. 9, p. E561, doi. 10.1002/ajh.24816
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- Publication type:
- Article
Astrocytic Demise in the Developing Rat and Human Brain after Hypoxic-Ischemic Damage.
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- Developmental Neuroscience, 2009, v. 31, n. 5, p. 459, doi. 10.1159/000232564
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- Publication type:
- Article
Adequacy of care management of patients with polyhandicap in the French health system: A study of 782 patients.
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- PLoS ONE, 2018, p. 1, doi. 10.1371/journal.pone.0199986
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- Publication type:
- Article
Early detection of median nerve compression by Electroneurography can improve outcome in children with Mucopolysaccharidoses.
- Published in:
- 2018
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- Publication type:
- journal article
Health care management adequacy among French persons with severe profound intellectual and multiple disabilities: a longitudinal study.
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- BMC Health Services Research, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12913-024-10552-9
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- Publication type:
- Article
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
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- 2019
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- Publication type:
- journal article
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1247, doi. 10.3390/ijms21041247
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- Publication type:
- Article
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 2, p. 441, doi. 10.3390/ijms18020441
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- Publication type:
- Article
Lung disease in niemann-pick disease.
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- Pediatric Pulmonology, 2007, v. 42, n. 12, p. 1207, doi. 10.1002/ppul.20725
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- Publication type:
- Article
Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up.
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- Prenatal Diagnosis, 2024, v. 44, n. 1, p. 35, doi. 10.1002/pd.6495
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- Publication type:
- Article
Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1263, doi. 10.1002/acn3.50822
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- Publication type:
- Article
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
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- European Journal of Human Genetics, 2004, v. 12, n. 6, p. 483, doi. 10.1038/sj.ejhg.5201177
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- Publication type:
- Article
Craniofacial Phenotype in the Branchio-Oculo-Facial Syndrome: Four Case Reports.
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- Cleft Palate Craniofacial Journal, 2012, v. 49, n. 3, p. 357, doi. 10.1597/10-203
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- Publication type:
- Article
Risk of Bacterial Meningitis in Children 6 to 11 Months of Age With a First Simple Febrile Seizure: A Retrospective, Cross-sectional, Observational Study.
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- Academic Emergency Medicine, 2015, v. 22, n. 11, p. 1290, doi. 10.1111/acem.12798
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- Publication type:
- Article
Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study.
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- Health Expectations, 2024, v. 27, n. 1, p. 1, doi. 10.1111/hex.13910
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- Publication type:
- Article
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
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- 2018
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- Publication type:
- Correction Notice
Microcephaly: a radiological review.
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- Pediatric Radiology, 2009, v. 39, n. 8, p. 772, doi. 10.1007/s00247-009-1266-x
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- Publication type:
- Article
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
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- Human Genetics, 2017, v. 136, n. 4, p. 463, doi. 10.1007/s00439-017-1772-0
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- Publication type:
- Article
Predictive Performance of Population Pharmacokinetic Models of Levetiracetam in Children and Evaluation of Dosing Regimen.
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- Journal of Clinical Pharmacology, 2021, v. 61, n. 10, p. 1366, doi. 10.1002/jcph.1910
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- Publication type:
- Article
Dosing Recommendations for Lamotrigine in Children: Evaluation Based on Previous and New Population Pharmacokinetic Models.
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- Journal of Clinical Pharmacology, 2021, v. 61, n. 5, p. 677, doi. 10.1002/jcph.1791
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- Publication type:
- Article
Simulations of Valproate Doses Based on an External Evaluation of Pediatric Population Pharmacokinetic Models.
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- Journal of Clinical Pharmacology, 2019, v. 59, n. 3, p. 406, doi. 10.1002/jcph.1333
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- Publication type:
- Article
Quality of life in patients with locked-in syndrome: Evolution over a 6-year period.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0304-z
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- Publication type:
- Article
Quality of life in patients with locked-in syndrome: Evolution over a 6-year period.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 88, doi. 10.1186/s13023-015-0304-z
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- Publication type:
- Article
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 36, doi. 10.1186/1750-1172-7-36
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- Publication type:
- Article
Evaluation of Quality of Life in Complete Locked-In Syndrome Patients.
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- Journal of Palliative Medicine, 2013, v. 16, n. 11, p. 1455, doi. 10.1089/jpm.2013.0120
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- Publication type:
- Article
Oculomotor and Vestibular Findings in gaucher Disease Type 3 and Their correlation with neurological Findings.
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- Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2017.00711
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- Publication type:
- Article
Healthcare of Persons With Complex Developmental Disabilities From Three European Experiences: France, Italy, and Norway.
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- Journal of Policy & Practice in Intellectual Disabilities, 2021, v. 18, n. 4, p. 273, doi. 10.1111/jppi.12384
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- Publication type:
- Article
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
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- Human Mutation, 2007, v. 28, n. 11, p. 1098, doi. 10.1002/humu.20568
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- Publication type:
- Article
Impact of severe polyhandicap on parents’ quality of life: A large French cross-sectional study.
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- PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0211640
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- Publication type:
- Article
MFN2, a new gene responsible for mitochondrial DNA depletion.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e223, doi. 10.1093/brain/aws111
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- Publication type:
- Article
Impact of caring for patients with severe and complex disabilities on health care workers' quality of life: determinants and specificities.
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- 2017
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- Publication type:
- journal article
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007386
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- Publication type:
- Article
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function.
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- Human Mutation, 2020, v. 41, n. 4, p. 837, doi. 10.1002/humu.23975
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- Publication type:
- Article
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
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- Human Mutation, 2020, v. 41, n. 1, p. 69, doi. 10.1002/humu.23915
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- Publication type:
- Article
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
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- Human Mutation, 2018, v. 39, n. 1, p. 23, doi. 10.1002/humu.23361
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- Publication type:
- Article
Cover Image, Volume 39, Issue 1.
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- Human Mutation, 2018, v. 39, n. 1, p. i, doi. 10.1002/humu.23372
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- Publication type:
- Article
A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease.
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- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2343, doi. 10.3390/jcm9082343
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- Publication type:
- Article
The French EVAL-PLH cohort of persons with polyhandicap.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-16596-3
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- Publication type:
- Article
Improved Fluorescent PCR-Based Assay for Sizing CGG Repeats at the FRAXA Locus.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 1999, v. 37, n. 4, p. 397
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- Publication type:
- Article
Effects of sphingolipids overload on red blood cell properties in Gaucher disease.
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- Journal of Cellular & Molecular Medicine, 2020, v. 24, n. 17, p. 9726, doi. 10.1111/jcmm.15534
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- Publication type:
- Article