Works matching DE "CHARGE syndrome"
Results: 121
EP09.10: Prenatal diagnosis of Charge syndrome associated with intestinal malrotation.
- Published in:
- 2016
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- Publication type:
- journal article
Ultrasound evaluation of development of olfactory sulci in normal fetuses: a possible role in diagnosis of CHARGE syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
P11.05: Unilateral microphtalmia, a common finding in three cases of CHARGE syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 243, doi. 10.1002/uog.14196
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- Article
CHARGE syndrome in a fetus with a large paraesophageal hernia presenting prenatally as esophageal atresia.
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- Ultrasound in Obstetrics & Gynecology, 2014, v. 43, n. 6, p. 713, doi. 10.1002/uog.13239
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- Publication type:
- Article
The education of learners with CHARGE syndrome.
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- British Journal of Special Education, 2017, v. 44, n. 4, p. 376, doi. 10.1111/1467-8578.12183
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- Article
Issue Information ‐ TOC.
- Published in:
- 2017
- Publication type:
- Table of Contents
Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes.
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- Transcription (2154-1264), 2019, v. 10, n. 1, p. 21, doi. 10.1080/21541264.2018.1521213
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- Publication type:
- Article
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.
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- Human Genetics, 2014, v. 133, n. 8, p. 997, doi. 10.1007/s00439-014-1444-2
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- Article
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
The choanal atresia: 13- year experience and a review of the literature: brief report.
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- Tehran University Medical Journal, 2011, v. 69, n. 7, p. 451
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- Publication type:
- Article
A case of Gross E esophageal atresia discovered following a unique clinical course.
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- Journal of Medical Investigation, 2022, v. 69, n. 1/2, p. 141, doi. 10.2152/jmi.69.141
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- Publication type:
- Article
Behavior Phenotype: A Synthesis of Research to Understand Age-Related Change in Behavior in Several Syndromes.
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- Journal of Policy & Practice in Intellectual Disabilities, 2014, v. 11, n. 1, p. 43, doi. 10.1111/jppi.12066
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- Publication type:
- Article
Inappropriate p53 activation during development induces features of CHARGE syndrome.
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- Nature, 2014, v. 514, n. 7521, p. 228, doi. 10.1038/nature13585
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- Article
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.
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- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00007
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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.
- Published in:
- 2017
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- Publication type:
- Case Study
Successful intubation using video laryngoscope in a child with CHARGE syndrome - A case report -.
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- Anesthesia & Pain Medicine, 2019, v. 14, n. 1, p. 40, doi. 10.17085/apm.2019.14.1.40
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- Publication type:
- Article
Secondary Glioblastoma Multiform in a Patient with CHARGE Syndrome and Prior Radiation Therapy for Medulloblastoma.
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- Pediatric Hematology & Oncology, 2014, v. 31, n. 4, p. 366, doi. 10.3109/08880018.2014.883002
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- Publication type:
- Article
A neonate with marked prolonged mixed apneas and CHARGE syndrome: a case report.
- Published in:
- 2018
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- Publication type:
- journal article
50<sup>th</sup> Genetics Corner: A Patient with CHARGE Syndrome Illustrates the Parable of the Six Blind Men and the Elephant.
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- Neonatology Today, 2022, v. 17, n. 6, p. 142, doi. 10.51362/neonatology.today/2022176142145
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- Publication type:
- Article
Bowen-Conradi Syndrome: A Trisomy 18-like Autosomal Recessive Disorder Common in Hutterites.
- Published in:
- 2015
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- Publication type:
- Case Study
Helmet modification for soft-band bone-anchored hearing aid use during cranial orthosis.
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- Laryngoscope, 2014, v. 124, n. 2, p. 558, doi. 10.1002/lary.24234
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- Publication type:
- Article
Repair of long type IV posterior laryngeal cleft through a cervical approach using cricotracheal separation.
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- Laryngoscope, 2013, v. 123, n. 3, p. 801, doi. 10.1002/lary.23660
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- Publication type:
- Article
Cochlear nerve deficiency in children with CHARGE syndrome.
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- Laryngoscope, 2013, v. 123, n. 3, p. 793, doi. 10.1002/lary.23682
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- Publication type:
- Article
Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.
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- BMC Endocrine Disorders, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12902-023-01373-8
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- Publication type:
- Article
Choanal Atresia: Birth Without Breath.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2018, v. 70, n. 1, p. 53, doi. 10.1007/s12070-017-1220-4
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- Publication type:
- Article
Strategies and Activities to Increase Balance in Children with CHARGE Syndrome.
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- Journal of Visual Impairment & Blindness, 2021, v. 115, n. 1, p. 63, doi. 10.1177/0145482X20987321
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- Publication type:
- Article
Relationship Between Motor Skills, Balance, and Physical Activity in Children with CHARGE Syndrome.
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- Journal of Visual Impairment & Blindness, 2020, v. 114, n. 4, p. 315, doi. 10.1177/0145482X20939469
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- Publication type:
- Article
Positive Behavior Supports for Individuals Who Are Deafblind with CHARGE Syndrome.
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- Journal of Visual Impairment & Blindness, 2018, v. 112, n. 5, p. 497, doi. 10.1177/0145482X1811200507
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- Publication type:
- Article
Positive Behavior Supports for a Young Adult with CHARGE Syndrome.
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- Journal of Visual Impairment & Blindness, 2017, v. 111, n. 2, p. 175, doi. 10.1177/0145482X1711100210
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- Publication type:
- Article
Socialization and Self-Determination in Different-Age Dyads of Students Who Are Deafblind.
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- Journal of Visual Impairment & Blindness, 2016, v. 110, n. 3, p. 149, doi. 10.1177/0145482X1611000302
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- Publication type:
- Article
Balance and Self-efficacy of Balance in Children with CHARGE Syndrome.
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- Journal of Visual Impairment & Blindness, 2013, v. 107, n. 4, p. 297, doi. 10.1177/0145482X1310700406
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- Publication type:
- Article
Physical Education and Children with CHARGE Syndrome: Research to Practice.
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- Journal of Visual Impairment & Blindness, 2012, v. 106, n. 2, p. 106, doi. 10.1177/0145482X1210600205
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- Publication type:
- Article
Experiences and Training Needs of Teachers Related to Physical Education for Children with Visual Impairments and Additional Disabilities.
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- Palaestra, 2023, v. 37, n. 2, p. 40
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- Publication type:
- Article
Gross Motor Assessment Results and Placement in Physical Education of Five Students with CHARGE Syndrome.
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- Palaestra, 2020, v. 34, n. 3, p. 27
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- Article
Participation in and Barriers to Recreation Participation in CHARGE Syndrome.
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- Palaestra, 2020, v. 34, n. 1, p. 38
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- Article
Constraints Model for Improving Motor Skills in Children with CHARGE Syndrome.
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- Palaestra, 2019, v. 33, n. 2, p. 39
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- Article
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.
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- Turkish Journal of Medical Sciences, 2018, v. 48, n. 5, p. 911, doi. 10.3906/sag-1611-107
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- Article
CHARGE syndrome: an overview on dental and maxillofacial features.
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- European Review for Medical & Pharmacological Sciences, 2014, v. 18, n. 15, p. 2089
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- Article
Branchio-oto-renal syndrome: Comprehensive review based on nationwide surveillance in Japan.
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- Pediatrics International, 2014, v. 56, n. 3, p. 309, doi. 10.1111/ped.12357
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- Publication type:
- Article
Trisomy 14 With Diaphragmatic Hernia: A Case Report.
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- Journal of Clinical Neonatology, 2016, v. 5, n. 4, p. 277, doi. 10.4103/2249-4847.194172
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- Publication type:
- Article
Psychomotor and cognitive impairments of children with CHARGE syndrome: Common and variable features.
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- Child Neuropsychology, 2013, v. 19, n. 5, p. 449, doi. 10.1080/09297049.2012.690372
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- Article
Obstructive Sleep Apnea in a Patient with CHARGE Syndrome.
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- Case Reports in Otolaryngology, 2012, p. 1, doi. 10.1155/2012/907032
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- Publication type:
- Article
Persistent left superior vena cava: an overlooked feature of CHARGE syndrome?
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- Cardiogenetics, 2015, v. 5, n. 1, p. 21, doi. 10.4081/cardiogenetics.2015.5511
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- Publication type:
- Article
The Incidence and Outcomes for Children with Cleft Palate and/or Lip and CHARGE Syndrome.
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- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 4, p. 620, doi. 10.1177/10556656221134558
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- Publication type:
- Article
Craniofacial Orthodontic Experience in CODA-Accredited Orthodontic Residency Programs.
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- Cleft Palate Craniofacial Journal, 2023, v. 60, n. 3, p. 313, doi. 10.1177/10556656211059363
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- Publication type:
- Article
Cleft Lip and Palate in CHARGE Syndrome.
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- Cleft Palate Craniofacial Journal, 2018, v. 55, n. 3, p. 342, doi. 10.1177/1055665617738994
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- Publication type:
- Article
The experience of siblings of individuals with CHARGE syndrome.
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- Journal of Intellectual & Developmental Disability, 2017, v. 42, n. 3, p. 240, doi. 10.3109/13668250.2016.1234594
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- Publication type:
- Article
Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.
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- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0142350
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- Publication type:
- Article
A 2-month-old baby with CHARGE syndrome.
- Published in:
- 2013
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- Publication type:
- Case Study
An Adlerian Looks at Challenging Behavior in Severe Disability.
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- Journal of Individual Psychology, 2017, v. 73, n. 3, p. 225, doi. 10.1353/jip.2017.0018
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- Publication type:
- Article