Works matching DE "OPITZ-Frias syndrome"
Results: 25
Orbital box osteotomy in frontonasal dysplasia with severe hypertelorism: Our first experience.
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- Journal of Cleft Lip Palate & Craniofacial Anomalies, 2023, v. 10, n. 2, p. 103, doi. 10.4103/jclpca.jclpca_4_23
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- Article
Emerging Roles of the TRIM E3 Ubiquitin Ligases MID1 and MID2 in Cytokinesis.
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- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00274
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- Article
11 Fatal Pulmonary Hemorrhage in a Patient With Loeys Dietz Syndrome: A Novel Case Report.
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- American Journal of Clinical Pathology, 2018, v. 149, p. S4, doi. 10.1093/ajcp/aqx114.010
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- Article
Dental treatment of a patient with Opitz G/BBB syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
A surgical approach to the craniofacial defects of Opitz G/BBB syndrome.
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- Journal of Surgical Case Reports, 2017, v. 2017, n. 2, p. 1, doi. 10.1093/jscr/rjx032
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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
Hidden danger of button batteries.
- Published in:
- 2015
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- Publication type:
- Other
Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.
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- Clinical Genetics, 2015, v. 87, n. 6, p. 570, doi. 10.1111/cge.12425
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- Article
Hypertelorism.
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- Indian Journal of Plastic Surgery, 2014, v. 47, n. 3, p. 284, doi. 10.4103/0970-0358.146572
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- Article
INTERMITTENT EXOTROPIA COURSE IN FRONTONASAL DYSPLASIA AND SEVERE ORBITAL HYPERTELORISM: CASE REPORT.
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- 2016
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- Publication type:
- Case Study
Successful use of ultrasound-guided caudal catheter in a child with a very low termination of dural sac and Opitz- GBBB syndrome: a case report.
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- Pediatric Anesthesia, 2015, v. 25, n. 10, p. 1060, doi. 10.1111/pan.12728
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- Article
XLOS-Observed Mutations of MID1 Bbox1 Domain Cause Domain Unfolding.
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- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107537
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- Article
Oro-facial digital syndrome (type II) with lingual lipomas.
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- Indian Journal of Medical Research, 2016, v. 144, n. 4, p. 636, doi. 10.4103/0971-5916.200889
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- Article
Thanatophoric dysplasia: Antenatal to postmortem.
- Published in:
- 2015
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- Publication type:
- Case Study
A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.
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- Maedica - a Journal of Clinical Medicine, 2017, v. 12, n. 1, p. 62
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- Article
Title of presented paper: Ethical challenges in a case with mosaicism.
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- European Journal of Clinical & Experimental Medicine, 2023, p. 88
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- Article
Association of abnormal metopic suture causing hypertelorism, interfrontal encephalocele with craniofacial cosmetic deformity associated with myelomeningocele: management literature review.
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- Romanian Neurosurgery, 2017, v. 31, n. 2, p. 182, doi. 10.1515/romneu-2017-0028
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- Article
Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 1, p. 95, doi. 10.1002/mgg3.183
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- Article
A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations.
- Published in:
- 2018
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- Publication type:
- Case Study
A Newborn with Arhinia: Suspected BAM Syndrome.
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- Journal of Behcet Uz Children's Hospital, 2023, v. 13, n. 1, p. 70, doi. 10.4274/buchd.galenos.2022.18942
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- Article
Wolf-Hirschhorn syndrome - a case report.
- Published in:
- 2017
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- Publication type:
- Case Study
Successful management of a case of Tessier's cleft number 0 and 14 with associated encephalocoele.
- Published in:
- 2016
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- Publication type:
- Case Study
Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound.
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- Clinical Case Reports, 2017, v. 5, n. 7, p. 1072, doi. 10.1002/ccr3.784
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- Article
Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.
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- Clinical Case Reports, 2017, v. 5, n. 1, p. 5, doi. 10.1002/ccr3.738
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- Publication type:
- Article
Bilateral cleft lip and palate, hypertelorism with agenesis of corpus callosum.
- Published in:
- 2016
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- Publication type:
- journal article