Found: 35
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Significance of surface epithelial cells in canine cerebrospinal fluid and relationship to central nervous system disease.
- Published in:
- Veterinary Clinical Pathology, 2010, v. 39, n. 3, p. 358, doi. 10.1111/j.1939-165X.2010.00248.x
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- Publication type:
- Article
Plasticity of GABA[subB] Receptor-Mediated Heterosynaptic Interactions at Mossy Fibers after Status Epilepticus.
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- Journal of Neuroscience, 2003, v. 23, n. 36, p. 11382, doi. 10.1523/JNEUROSCI.23-36-11382.2003
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- Publication type:
- Article
Inhibition of long-term potentiation by valproic acid through modulation of cyclic AMP.
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- Epilepsia (Series 4), 2010, v. 51, n. 8, p. 1533, doi. 10.1111/j.1528-1167.2009.02412.x
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- Publication type:
- Article
EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 588, doi. 10.1002/ajmg.a.61066
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- Publication type:
- Article
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3003, doi. 10.1002/ajmg.a.38492
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- Publication type:
- Article
Temple Syndrome as a Result of Isolated Hypomethylation of the 14q32 Imprinted DLK1/MEG3 Region.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 170, doi. 10.1002/ajmg.a.37400
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- Article
CRTAP mutation in a patient with Cole-Carpenter syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 587, doi. 10.1002/ajmg.a.36916
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- Article
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1713, doi. 10.1002/ajmg.a.36552
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- Publication type:
- Article
Use of Ketamine for the Management of Refractory Status Epilepticus in a Dog.
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- Journal of Veterinary Internal Medicine, 2006, v. 20, n. 1, p. 194, doi. 10.1111/j.1939-1676.2006.tb02841.x
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- Article
Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention.
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- British Journal of Haematology, 2014, v. 166, n. 6, p. 807, doi. 10.1111/bjh.12996
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- Publication type:
- Article
Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention.
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- British Journal of Haematology, 2014, v. 166, n. 1, p. 1, doi. 10.1111/bjh.12996
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- Publication type:
- Article
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
- Published in:
- Nature Genetics, 2006, v. 38, n. 8, p. 910, doi. 10.1038/ng1842
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- Publication type:
- Article
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
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- BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-018-0520-1
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- Publication type:
- Article
Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.
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- Cleft Palate Craniofacial Journal, 2020, v. 57, n. 5, p. 606, doi. 10.1177/1055665620902880
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- Publication type:
- Article
Treatment and monitoring of epilepsy in dogs.
- Published in:
- In Practice (0263841X), 2011, v. 33, n. 3, p. 98, doi. 10.1136/inp.d1193
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- Publication type:
- Article
Seizures: intracranial or extracranial disease?
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- In Practice (0263841X), 2008, v. 30, n. 7, p. 366, doi. 10.1136/inpract.30.7.366
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- Publication type:
- Article
A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping.
- Published in:
- PLoS ONE, 2010, v. 5, n. 1, p. 1, doi. 10.1371/journal.pone.0008647
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- Publication type:
- Article
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.
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- British Journal of Dermatology, 2023, v. 188, n. 1, p. 75, doi. 10.1093/bjd/ljac026
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- Article
Contribution of retrotransposition to developmental disorders.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12520-y
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- Publication type:
- Article
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
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- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 381, doi. 10.1038/ejhg.2011.220
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- Article
Syringomyelia in cavalier King Charles spaniels.
- Published in:
- 2008
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- Publication type:
- Letter
Molecular basis of canine epilepsies.
- Published in:
- 2005
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- Publication type:
- Letter
Communication lessons learned from the 2017 measles–rubella campaign in India: perspectives from vaccine decision-makers.
- Published in:
- Health Promotion International, 2022, v. 37, n. 5, p. 1, doi. 10.1093/heapro/daac116
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- Publication type:
- Article
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
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- Cellular & Molecular Life Sciences, 2023, v. 80, n. 11, p. 1, doi. 10.1007/s00018-023-04991-6
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- Publication type:
- Article
Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 208, doi. 10.1111/cge.14083
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- Publication type:
- Article
Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 4, p. 366, doi. 10.1111/cge.13605
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- Publication type:
- Article
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
- Published in:
- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad222
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- Publication type:
- Article
Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 9, p. 1547, doi. 10.1007/s00467-018-3952-0
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- Publication type:
- Article
Clinical and genetic findings in TRPM1‐related congenital stationary night blindness.
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- Acta Ophthalmologica (1755375X), 2022, v. 100, n. 6, p. e1332, doi. 10.1111/aos.15186
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- Publication type:
- Article
My year as a Fulbrighter.
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- Veterinary Record: Journal of the British Veterinary Association, 2016, v. 179, n. 2, p. i, doi. 10.1136/vr.i3747
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- Publication type:
- Article
A Fulbright Scholar in New York.
- Published in:
- Veterinary Record: Journal of the British Veterinary Association, 2015, v. 177, n. 9, p. i, doi. 10.1136/vr.h4688
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- Publication type:
- Article
Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma.
- Published in:
- Familial Cancer, 2012, v. 11, n. 4, p. 661, doi. 10.1007/s10689-012-9553-3
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- Publication type:
- Article
Oranges and Sunshine: Exposing a Shameful Past.
- Published in:
- 2011
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- Publication type:
- Arts/Entertainment Review
SECRETS AND LIES IN FOUR OFA KIND.
- Published in:
- 2011
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- Publication type:
- Arts/Entertainment Review
The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience.
- Published in:
- Clinical Otolaryngology, 2021, v. 46, n. 6, p. 1257, doi. 10.1111/coa.13826
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- Article