Works matching DE "TRICHOHEPATOENTERIC syndrome"
Results: 17
Diarrea crónica intratable asociada con diarrea fenotípica de la infancia (síndrome tricohepatoentérico).
- Published in:
- Acta Pediatrica de Mexico, 2014, v. 35, n. 6, p. 483, doi. 10.18233/APM35No6pp483-489
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- Publication type:
- Article
Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.
- Published in:
- 2016
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- Publication type:
- Case Study
Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes.
- Published in:
- BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0395-1
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- Publication type:
- Article
The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.
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- Iranian Journal of Basic Medical Sciences, 2018, v. 21, n. 3, p. 333
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- Publication type:
- Article
Genetics of patella hypoplasia/agenesis.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 1, p. 43, doi. 10.1111/cge.13209
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- Publication type:
- Article
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 5, p. 708, doi. 10.1111/cge.12884
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- Publication type:
- Article
Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome.
- Published in:
- Clinical Genetics, 2015, v. 87, n. 6, p. 602, doi. 10.1111/cge.12494
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- Publication type:
- Article
A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome.
- Published in:
- Veterinary Dermatology, 2017, v. 28, n. 6, p. 616, doi. 10.1111/vde.12462
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- Publication type:
- Article
Moyamoya Disease in Children: Results From the International Pediatric Stroke Study.
- Published in:
- Journal of Child Neurology, 2017, v. 32, p. 924, doi. 10.1177/0883073817718730
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- Publication type:
- Article
Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea.
- Published in:
- 2018
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- Publication type:
- Letter
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0388-5
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- Publication type:
- Article
Late Developing Supernumeraries in a Case of Nonsyndromic Multiple Supernumerary Teeth.
- Published in:
- 2015
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- Publication type:
- Case Study
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.
- Published in:
- Application of Clinical Genetics, 2018, v. 11, p. 93, doi. 10.2147/TACG.S165799
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- Publication type:
- Article
Alternations in genes expression of pathway signaling in esophageal tissue with atresia: results of expression microarray profiling.
- Published in:
- Diseases of the Esophagus, 2015, v. 28, n. 3, p. 229, doi. 10.1111/dote.12173
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- Publication type:
- Article
Trichohepatoenteric Syndrome or Syndromic Diarrhea—Report of Three Members in a Family, First Report from Iran.
- Published in:
- 2016
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- Publication type:
- Case Study
Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Ein Erreger von vielen?
- Published in:
- Trillium-Diagnostik, 2023, v. 21, n. 2, p. 112
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- Publication type:
- Article