Works matching DE "RUBINSTEIN-Taybi syndrome"
Results: 85
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
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- Human Genetics, 2019, v. 138, n. 3, p. 257, doi. 10.1007/s00439-019-01985-y
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- Article
Rare neurodevelopmental disorders: your guide: How families can be key in boosting learning disability nurses' understanding of rare neurodevelopmental disorders.
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- Learning Disability Practice, 2024, v. 27, n. 1, p. 10, doi. 10.7748/ldp.27.1.10.s5
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- Article
Bilateral Talon Cusp-An unusual presentation and its management.
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- Indian Journal of Public Health Research & Development, 2012, v. 3, n. 2, p. 113
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- Article
RUBINSTEIN TAYBI SYNDROME; A VERY RARE CONDITION.
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- 2016
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- Publication type:
- Case Study
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
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- Human Genetics, 2015, v. 134, n. 6, p. 613, doi. 10.1007/s00439-015-1542-9
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- Article
Genetic syndromes caused by mutations in epigenetic genes.
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- Human Genetics, 2013, v. 132, n. 4, p. 359, doi. 10.1007/s00439-013-1271-x
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- Article
Oro-Facio-Dental Findings of Rubinstein-Taybi Syndrome as a Useful Diagnostic Feature.
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- 2014
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- Case Study
RUBINSTEIN-TAYBI SYNDROME (RTS).
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- 2014
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- Publication type:
- Case Study
Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein--Taybi syndromes: potential role of H3K27 modifications.
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- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005058
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- Article
Genetics Corner: A New Case of Rubinstein-Taybi Syndrome with a Novel Variant in the CREBBP Gene Detected through Whole Exome Sequencing.
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- Neonatology Today, 2023, v. 18, n. 12, p. 165
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- Article
The Genetics Corner: A Genetics Consultation for Agenesis of the Corpus Callosum and Poor Feeding.
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- 2019
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- Case Study
Rubinstein-Taybi syndrome: Dental manifestations and management.
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- South African Journal of Child Health, 2014, v. 8, n. 1, p. 28, doi. 10.7196/SAJCH.569
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- Article
Keloids: An Unwanted Spontaneity in Rubinstein-Taybi Syndrome.
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- Indian Journal of Dermatology, 2015, v. 60, n. 2, p. 1, doi. 10.4103/0019-5154.152594
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- Article
Rubinstein‐Taybi syndrome with ileocecal volvulus: A case report.
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- Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15762
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- Article
Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability.
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- Journal of Intellectual & Developmental Disability, 2021, v. 46, n. 1, p. 80, doi. 10.3109/13668250.2020.1776455
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- Article
Multiple supernumerary teeth in a child with Rubinstein-Taybi syndrome: a rare feature.
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- Archives of Orofacial Science, 2014, v. 9, n. 1, p. 47
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- Article
Rubinstein-Taybi Syndrome with Psychosis.
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- Indian Journal of Psychological Medicine, 2012, v. 34, n. 2, p. 184, doi. 10.4103/0253-7176.101796
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- Article
Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome.
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- Annals of Pediatric Cardiology, 2015, v. 8, n. 2, p. 157, doi. 10.4103/0974-2069.154151
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- Article
Rubinstein-Taybi syndrome with agenesis of corpus callosum.
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- Journal of Pediatric Neurosciences, 2015, v. 10, n. 2, p. 175, doi. 10.4103/1817-1745.159207
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- Article
Rubinstein-Taybi syndrome:A report of two siblings with unreported cutaneous stigmata.
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- 2013
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- Publication type:
- Case Study
Erratum.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 367, doi. 10.1002/mgg3.218
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- Article
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein- Taybi syndrome.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 1, p. 39, doi. 10.1002/mgg3.177
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- Article
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95133-0
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- Article
Management of Anesthesia for Rubinstein-Taybi syndrome.
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- 2012
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- Publication type:
- Letter
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations.
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- Clinical Genetics, 2019, v. 95, n. 3, p. 420, doi. 10.1111/cge.13493
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- Article
Antibody deficiency in Rubinstein-Taybi syndrome.
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- Clinical Genetics, 2016, v. 89, n. 3, p. 355, doi. 10.1111/cge.12671
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- Article
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
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- Clinical Genetics, 2015, v. 87, n. 2, p. 148, doi. 10.1111/cge.12348
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- Article
New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome.
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- Clinical Genetics, 2013, v. 83, n. 3, p. 291, doi. 10.1111/j.1399-0004.2012.01894.x
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- Article
Air-Q blocker: A novel supraglottic airway device for patients with difficult airway and risk of aspiration.
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- 2014
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- Publication type:
- Case Study
Perioperative management of a patient of Rubinstein-Taybi syndrome with ovarian cyst for laparotomy.
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- Journal of Anaesthesiology Clinical Pharmacology, 2014, v. 30, n. 3, p. 422, doi. 10.4103/0970-9185.137285
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- Article
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
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- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 28, doi. 10.1186/s13052-015-0110-1
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- Article
The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome.
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- Child's Nervous System, 2012, v. 28, n. 12, p. 2163, doi. 10.1007/s00381-012-1893-7
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- Article
Correction of thumb angulations after physiolysis of delta phalanges in a child with Rubinstein-Taybi syndrome: a case report.
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- Case Reports in Plastic Surgery & Hand Surgery, 2015, v. 2, n. 1, p. 12, doi. 10.3109/23320885.2014.997236
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- Article
Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry.
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- Scientific Reports, 2015, p. 16256, doi. 10.1038/srep16256
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- Article
Keloids in Rubinstein-Taybi syndrome: a clinical study.
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- British Journal of Dermatology, 2014, v. 171, n. 3, p. 615, doi. 10.1111/bjd.13124
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- Article
Rare genetic diseases, signalling pathways, and keloid scar formation.
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- British Journal of Dermatology, 2014, v. 171, n. 3, p. 452, doi. 10.1111/bjd.13257
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- Article
A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood.
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- Clinical Endocrinology, 2015, v. 83, n. 3, p. 437, doi. 10.1111/cen.12748
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- Article
THE QUALITY OF LIFE OF THE PARENTS OF A CHILD WITH RUBINSTEIN-TAYBI SYNDROME.
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- Acta Neuropsychologica, 2013, v. 11, n. 1, p. 53
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- Article
Does Electrical Conductivity of Linear Polyelectrolytes in Aqueous Solutions Follow the Dynamic Scaling Laws? A Critical Review and a Summary of the Key Relations.
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- Polymers (20734360), 2014, v. 6, n. 4, p. 1207, doi. 10.3390/polym6041207
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- Article
Anesthetic Management for Patient with Rubinstein-Taybi Syndrome.
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- International Student Journal of Nurse Anesthesia, 2016, v. 15, n. 3, p. 52
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- Article
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome.
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- 2020
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- Publication type:
- journal article
Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation.
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- International Journal of Molecular Sciences, 2015, v. 16, n. 3, p. 5697, doi. 10.3390/ijms16035697
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- Article
Successful use of air-Q intubating laryngeal airway after failed rapid sequence intubation in a child with Rubinstein-Taybi syndrome.
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- 2013
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- Publication type:
- Case Study
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0747-5
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- Article
Rubinstein-Taybi 2 associated to novel <italic>EP300</italic> mutations: deepening the clinical and genetic spectrum.
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- BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-018-0548-2
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- Article
Rubinstein–Taybi syndrome – a window into follicular lymphoma biology.
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- Leukemia & Lymphoma, 2016, v. 57, n. 12, p. 2908, doi. 10.3109/10428194.2016.1165816
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- Publication type:
- Article
Achados audiológicos na síndrome de Rubinstein-Taybi: revisão sistemática.
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- Fisioterapia Brasil, 2023, v. 24, n. 1, p. 113, doi. 10.33233/fb.v24i1.5298
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- Article
Childhood Glaucoma Associated With Broad Fingers and Toes.
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- 2014
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- Publication type:
- Test/Instrument
Multiple keloids in a 16-year-old boy with Rubinstein- Taybi syndrome.
- Published in:
- 2015
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- Publication type:
- Letter to the Editor
Patellofemoral Ligament Reconstruction in a Patient with Rubinstein--Taybi Syndrome.
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- Acta Medica Iranica, 2014, v. 52, n. 3, p. 228
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- Publication type:
- Article