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Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.
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- JAMA Network Open, 2024, v. 7, n. 3, p. e242609, doi. 10.1001/jamanetworkopen.2024.2609
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- Article
Attention challenges in Kabuki syndrome.
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- Journal of Intellectual Disability Research, 2024, v. 68, n. 2, p. 173, doi. 10.1111/jir.13100
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- Article
General Anaesthesia Management in a Patient Diagnosed with Kabuki Syndrome and Review of the Literature.
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- Türkiye Klinikleri Journal of Case Reports, 2024, v. 32, n. 1, p. 1, doi. 10.5336/caserep.2023-99773
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- Article
c.4168G>A(p.Ala 1390Thr) Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature Review.
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- Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2023, v. 60, n. 4, p. 380, doi. 10.29399/npa.28417
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- Article
Hyperinsulinemic Hypoglycemia in Childhood.
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- European Journal of Therapeutics, 2023, v. 29, n. 4, p. 918, doi. 10.58600/eurjther1758
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- Article
Unlocking the Genetic Link between Kabuki Syndrome and Schizophrenia: Implications for Diagnosis and Treatment.
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- International Journal of High School Research, 2023, v. 5, n. 5, p. 82, doi. 10.36838/v5i5.15
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- Article
Genetic examination for fetuses with increased nuchal translucency by exome sequencing.
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- Journal of Obstetrics & Gynaecology Research, 2023, v. 49, n. 2, p. 530, doi. 10.1111/jog.15482
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- Article
C.E. Credit. Kabuki Syndrome and Its Oral Manifestations: A Case Report.
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- Journal of the California Dental Association, 2023, v. 51, n. 1, p. 1, doi. 10.1080/19424396.2023.2249028
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- Article
Anesthetic care of a child with Kabuki syndrome.
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- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2023, v. 11, n. 1, p. 16, doi. 10.14587/paccj.2023.3
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- Article
Genomic analysis of Kabuki syndrome with multiple abnormalities in infancy.
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- 2023
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- Publication type:
- Case Study
Correction to "Coarctation of the aorta and left ventricular diverticulum in Kabuki syndrome".
- Published in:
- 2023
- Publication type:
- Correction Notice
Clinical, demographic and genetic features of patients with congenital heart disease : A single center experience.
- Published in:
- Marmara Medical Journal, 2022, v. 35, n. 2, p. 159, doi. 10.5472/marumj.1120570
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- Article
A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome.
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- Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 4, p. 452, doi. 10.4274/jcrpe.galenos.2020.2020.0065
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- Article
Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.
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- Pediatric Nephrology, 2021, v. 36, n. 12, p. 4009, doi. 10.1007/s00467-021-05216-3
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- Article
Emerging Role of the Ketogenic Dietary Therapies beyond Epilepsy in Child Neurology.
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- Annals of Indian Academy of Neurology, 2021, v. 24, n. 4, p. 470, doi. 10.4103/aian.AIAN_20_21
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- Article
Make up your knowledge: Kabuki make-up syndrome and pes planovalgus.
- Published in:
- 2021
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- Publication type:
- Case Study
Kabuki syndrome: A rare clinical presentation.
- Published in:
- Annals of Indian Academy of Neurology, 2020, v. 23, n. 6, p. 828, doi. 10.4103/aian.AIAN_541_19
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- Article
Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00902-8
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- Article
Kabuki Syndrome in a Newborn with a Complex Left-Sided Cardiac Lesion and Persistent Hypoglycemia due to Hyperinsulinism.
- Published in:
- 2020
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- Case Study
Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis.
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- Developmental Dynamics, 2019, v. 248, n. 6, p. 465, doi. 10.1002/dvdy.39
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- Article
Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome.
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- 2019
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- Letter to the Editor
Exploring the cognitive phenotype of Kabuki (Niikawa–Kuroki) syndrome.
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- Journal of Intellectual Disability Research, 2019, v. 63, n. 6, p. 498, doi. 10.1111/jir.12597
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- Article
Coarctation of the aorta and left ventricular diverticulum in Kabuki syndrome.
- Published in:
- 2019
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- Publication type:
- Case Study
Systematic review of Kabuki Syndrome's phenotype with KMT2D gene mutation.
- Published in:
- RevInter, 2019, v. 12, n. 1, p. 60, doi. 10.22280/revintervol12ed1.426
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- Publication type:
- Article
Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report.
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- 2018
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- Publication type:
- Case Study
Unraveling molecular pathways shared by Kabuki and Kabuki‐like syndromes.
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- Clinical Genetics, 2018, v. 94, n. 3/4, p. 283, doi. 10.1111/cge.12983
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- Article
Orthodontic Treatment of a Kabuki Syndrome Patient.
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- Cleft Palate Craniofacial Journal, 2018, v. 55, n. 8, p. 1175, doi. 10.1177/1055665618765775
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- Article
THE ROLE OF THE NURSING TEAM IN THE CARE OF PATIENTS WITH KABUKI SYNDROME.
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- Medical Science Pulse, 2018, v. 12, n. 3, p. 36, doi. 10.5604/01.3001.0012.5180
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- Article
A de novo <italic>KMT2D</italic> mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.
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- 2018
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- Publication type:
- Case Study
Sirolimus as an alternative treatment in patients with granulomatous‐lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells.
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- 2018
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- Publication type:
- Case Study
Cerebral Lymphoproliferation in a Patient with Kabuki Syndrome.
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- 2018
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- Publication type:
- Letter to the Editor
Neurobehavioral features in individuals with Kabuki syndrome.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 322, doi. 10.1002/mgg3.348
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- Article
Identification of novel <italic>KMT2D</italic> mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
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- 2018
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- Publication type:
- Case Study
Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency.
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- Clinical Genetics, 2018, v. 93, n. 2, p. 401, doi. 10.1111/cge.13029
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- Article
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 1, p. 82, doi. 10.3390/ijms19010082
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- Article
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.
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- 2017
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- Case Study
A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.
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- Clinical Genetics, 2017, v. 92, n. 5, p. 554, doi. 10.1111/cge.13023
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- Publication type:
- Article
Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results.
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- Hormone Research in Paediatrics, 2017, v. 88, n. 3/4, p. 258, doi. 10.1159/000479368
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- Article
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
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- Clinical Genetics, 2017, v. 92, n. 3, p. 298, doi. 10.1111/cge.13010
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- Article
The Histone H3K27 Demethylase UTX Regulates Synaptic Plasticity and Cognitive Behaviors in Mice.
- Published in:
- Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00267
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- Article
Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child.
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- Egyptian Journal of Medical Human Genetics, 2017, v. 18, n. 1, p. 87, doi. 10.1016/j.ejmhg.2015.12.001
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- Article
Pilomatricoma Associated with Kabuki Syndrome.
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- Pediatric Dermatology, 2017, v. 34, n. 1, p. e26, doi. 10.1111/pde.13014
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- Article
Growth Hormone Stimulation Tests in Children with Kabuki Syndrome.
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- Hormone Research in Paediatrics, 2016, v. 86, n. 5, p. 319, doi. 10.1159/000449221
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- Article
A novel KMT2D mutation resulting in Kabuki syndrome: A case report.
- Published in:
- 2016
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- Publication type:
- Case Study
A Child with Kabuki Syndrome and Autism Spectrum Disorder.
- Published in:
- Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2016, v. 53, n. 3, p. 280, doi. 10.5152/npa.2015.10099
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- Article
Kabuki Syndrome with Cleft Palate.
- Published in:
- 2016
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- Publication type:
- Case Study
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 230, doi. 10.1111/cge.12754
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- Article
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 258, doi. 10.1111/cge.12773
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- Article
Persistent hyperinsulinism in Kabuki syndrome 2: case report and literature review.
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- Clinics & Practice, 2016, v. 6, n. 3, p. 68, doi. 10.4081/cp.2016.848
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- Article
Cochlear Implantation in a Patient with Kabuki Syndrome.
- Published in:
- Journal of International Advanced Otology, 2016, v. 12, n. 1, p. 129, doi. 10.5152/iao.2016.2004
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- Publication type:
- Article