Works matching DE "RUBINSTEIN-Taybi syndrome"
Results: 85
Management of Anesthesia for Rubinstein-Taybi syndrome.
- Published in:
- 2012
- By:
- Publication type:
- Letter
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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- Publication type:
- Article
Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.
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- Clinical Case Reports, 2016, v. 4, n. 7, p. 696, doi. 10.1002/ccr3.598
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- Publication type:
- 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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- Publication type:
- Article
Rare genetic diseases, signalling pathways, and keloid scar formation.
- Published in:
- British Journal of Dermatology, 2014, v. 171, n. 3, p. 452, doi. 10.1111/bjd.13257
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- Publication type:
- 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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- Publication type:
- Article
Rubinstein-Taybi Syndrome: A Case Report.
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- Case Reports in Dentistry, 2012, p. 1, doi. 10.1155/2012/483867
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- Publication type:
- Article
Evaluation of Ayres Sensory Integration ® Intervention on Sensory Processing and Motor Function in a Child with Rubinstein-Taybi Syndrome: A Case Report.
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- Clinical Medicine Insights: Case Reports, 2023, p. 1, doi. 10.1177/11795476221148866
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- Publication type:
- Article
Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome.
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- Clinical Ophthalmology, 2012, v. 6, p. 1369, doi. 10.2147/OPTH.S31023
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- Publication type:
- Article
A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.
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- Journal of Autism & Developmental Disorders, 2020, v. 50, n. 1, p. 127, doi. 10.1007/s10803-019-04232-5
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- Publication type:
- Article
Rubinstein-Taybi Syndrome; A Case Report.
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- Iranian Journal of Child Neurology, 2011, v. 5, n. 2, p. 39
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- Publication type:
- Article
Psychiatric Profile in Rubinstein-Taybi Syndrome.
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- Psychopathology, 2009, v. 43, n. 1, p. 63
- Publication type:
- Article
Anesthetic Management for Patient with Rubinstein-Taybi Syndrome.
- Published in:
- International Student Journal of Nurse Anesthesia, 2016, v. 15, n. 3, p. 52
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- Publication type:
- Article
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
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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- Publication type:
- Article
Rubinstein-Taybi syndrome:A report of two siblings with unreported cutaneous stigmata.
- Published in:
- 2013
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- Publication type:
- Case Study
Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein--Taybi syndromes: potential role of H3K27 modifications.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 4, p. 1, doi. 10.1101/mcs.a005058
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- Publication type:
- 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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- Publication type:
- Article
A novel EP300 mutation associated with Rubinstein‐Taybi syndrome type 2 presenting as combined immunodeficiency.
- Published in:
- 2018
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- Publication type:
- Case Study
Bilateral Talon Cusp-An unusual presentation and its management.
- Published in:
- Indian Journal of Public Health Research & Development, 2012, v. 3, n. 2, p. 113
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- Publication type:
- Article
Multiple keloids in a 16-year-old boy with Rubinstein- Taybi syndrome.
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Rubinstein-taybi syndrome: A case report and Review.
- Published in:
- 2014
- By:
- Publication type:
- Abstract
Infantile glaucoma in Rubinstein-Taybi syndrome.
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- Eye, 2012, v. 26, n. 9, p. 1270, doi. 10.1038/eye.2012.123
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- Publication type:
- Article
RUBINSTEIN TAYBI SYNDROME; A VERY RARE CONDITION.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Childhood Glaucoma Associated With Broad Fingers and Toes.
- Published in:
- 2014
- By:
- Publication type:
- Test/Instrument
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
- Published in:
- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 28, doi. 10.1186/s13052-015-0110-1
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- Publication type:
- 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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- Publication type:
- Article
Septate Uterus in a Girl with Rubinstein–Taybi Syndrome.
- Published in:
- Case Reports in Pediatrics, 2018, p. 1, doi. 10.1155/2018/7878156
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- Publication type:
- Article
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 420, doi. 10.1111/cge.13493
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- Publication type:
- Article
Antibody deficiency in Rubinstein-Taybi syndrome.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 3, p. 355, doi. 10.1111/cge.12671
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- Publication type:
- Article
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
- Published in:
- Clinical Genetics, 2015, v. 87, n. 2, p. 148, doi. 10.1111/cge.12348
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- Publication type:
- 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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- Publication type:
- Article
Genetics Corner: A New Case of Rubinstein-Taybi Syndrome with a Novel Variant in the CREBBP Gene Detected through Whole Exome Sequencing.
- Published in:
- Neonatology Today, 2023, v. 18, n. 12, p. 165
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- Publication type:
- Article
The Genetics Corner: A Genetics Consultation for Agenesis of the Corpus Callosum and Poor Feeding.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
RUBINSTEIN-TAYBI SYNDROME (RTS).
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Corrigendum.
- Published in:
- 2012
- Publication type:
- Correction Notice
Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome--like skeletal defects induced by Pdk1 or Cbp mutations in mice.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 1, p. 91, doi. 10.1172/JCI59466
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- Publication type:
- Article
Menke–Hennekam Syndrome: A Literature Review and a New Case Report.
- Published in:
- Children, 2022, v. 9, n. 5, p. 759, doi. 10.3390/children9050759
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- Publication type:
- Article
Odontoma.
- Published in:
- ENT: Ear, Nose & Throat Journal, 2021, v. 100, p. 536S, doi. 10.1177/0145561319890175
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- Publication type:
- Article
Rubinstein-Taybi syndrome with agenesis of corpus callosum.
- Published in:
- Journal of Pediatric Neurosciences, 2015, v. 10, n. 2, p. 175, doi. 10.4103/1817-1745.159207
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- Publication type:
- Article
Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
- Published in:
- Human Genetics, 2019, v. 138, n. 3, p. 257, doi. 10.1007/s00439-019-01985-y
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- Publication type:
- Article
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
- Published in:
- Human Genetics, 2015, v. 134, n. 6, p. 613, doi. 10.1007/s00439-015-1542-9
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- Publication type:
- Article
Genetic syndromes caused by mutations in epigenetic genes.
- Published in:
- Human Genetics, 2013, v. 132, n. 4, p. 359, doi. 10.1007/s00439-013-1271-x
- By:
- Publication type:
- Article
Circumscribed Storiform Collagenoma Associated with Rubinstein-Taybi Syndrome in a Young Adolescent.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Air-Q blocker: A novel supraglottic airway device for patients with difficult airway and risk of aspiration.
- Published in:
- 2014
- By:
- Publication type:
- Case Study