Found: 34
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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Reply on Recommendations for postpartum hemorrhage in women who decline blood transfusion.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2015, v. 94, n. 7, p. 787, doi. 10.1111/aogs.12641
- By:
- Publication type:
- Article
Emergency surgery for PPH in women declining blood transfusion or when allogeneic blood is not available.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2015, v. 94, n. 5, p. 554, doi. 10.1111/aogs.12584
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- Publication type:
- Article
Luminal Antigliadin Antibodies in Small Intestinal Bacterial Overgrowth.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1997, v. 92, n. 8, p. 1335
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- Publication type:
- Article
Small Intestinal Bacterial Overgrowth in the Symptomatic Elderly.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1997, v. 92, n. 1, p. 47
- By:
- Publication type:
- Article
Bacteriological Method for Detecting Small Intestinal Hypomotility.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1996, v. 91, n. 11, p. 2399
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- Publication type:
- Article
The Lactulose Breath Hydrogen Test and Small Intestinal Bacterial Overgrowth.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1996, v. 91, n. 9, p. 1795
- By:
- Publication type:
- Article
Factors Influencing the 1--g <sup>14</sup>C--D--Xylose Breath Test for Bacterial Overgrowth.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1995, v. 90, n. 9, p. 1455
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- Publication type:
- Article
Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2575, doi. 10.3390/ijms22052575
- By:
- Publication type:
- Article
The Role of FRMD7 in Idiopathic Infantile Nystagmus.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
The Role of FRMD7 in Idiopathic Infantile Nystagmus.
- Published in:
- Journal of Ophthalmology, 2012, p. 1, doi. 10.1155/2012/460956
- By:
- Publication type:
- Article
The treatment of obstetric haemorrhage in women who refuse blood transfusion.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1998, v. 105, n. 1, p. 127, doi. 10.1111/j.1471-0528.1998.tb09370.x
- By:
- Publication type:
- Article
Texture-based classification of liver fibrosis using MRI.
- Published in:
- Journal of Magnetic Resonance Imaging, 2015, v. 41, n. 2, p. 322, doi. 10.1002/jmri.24536
- By:
- Publication type:
- Article
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 344, doi. 10.1038/ejhg.2013.162
- By:
- Publication type:
- Article
Development and validation of a novel molecular biomarker diagnostic test for the early detection of sepsis.
- Published in:
- 2011
- By:
- Publication type:
- journal article
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 3, p. 892, doi. 10.1093/brain/awq373
- By:
- Publication type:
- Article
DYNC2H1 variants cause Leber congenital amaurosis without syndromic features.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 1, p. 111, doi. 10.1111/cge.13958
- By:
- Publication type:
- Article
Discordant phenotypes in twins with infantile nystagmus.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82368-0
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- Publication type:
- Article
Zebrafish Optokinetic Reflex: Minimal Reporting Guidelines and Recommendations.
- Published in:
- Biology (2079-7737), 2024, v. 13, n. 1, p. 4, doi. 10.3390/biology13010004
- By:
- Publication type:
- Article
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 18, p. 2989, doi. 10.1093/hmg/ddaa166
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- Publication type:
- Article
Abnormal retinal development associated with FRMD7 mutations.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4086, doi. 10.1093/hmg/ddu122
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- Publication type:
- Article
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 10, p. 2105, doi. 10.1093/hmg/ddt060
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- Publication type:
- Article
A gene signature identified using a mouse model of androgen receptor-dependent prostate cancer predicts biochemical relapse in human disease.
- Published in:
- International Journal of Cancer, 2012, v. 131, n. 3, p. 662, doi. 10.1002/ijc.26414
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- Publication type:
- Article
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X‐Linked Intellectual Disability.
- Published in:
- Annals of Neurology, 2024, v. 96, n. 5, p. 914, doi. 10.1002/ana.27037
- By:
- Publication type:
- Article
Survey on the impact of COVID19 in patients on immunosuppression for ocular and orbital inflammatory disorders.
- Published in:
- European Journal of Ophthalmology, 2022, v. 32, n. 1, p. NP280, doi. 10.1177/11206721211008039
- By:
- Publication type:
- Article
Response to spectral-domain optical coherence tomography foveal morphology as a prognostic factor for vision performance in congenital aniridia.
- Published in:
- European Journal of Ophthalmology, 2022, v. 32, n. 1, p. NP265, doi. 10.1177/1120672120912658
- By:
- Publication type:
- Article
Impact of COVID-19 pandemic and lockdown on eye emergencies.
- Published in:
- European Journal of Ophthalmology, 2021, v. 31, n. 6, p. 2894, doi. 10.1177/1120672120974944
- By:
- Publication type:
- Article
Analysis of human leukaemias and lymphomas using extensive immunophenotypes from an antibody microarray.
- Published in:
- British Journal of Haematology, 2006, v. 135, n. 2, p. 184, doi. 10.1111/j.1365-2141.2006.06266.x
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- Publication type:
- Article
Single cell dual-omic atlas of the human developing retina.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-50853-5
- By:
- Publication type:
- Article
Vinyl chloride related hepatic angiosarcoma in a polyvinyl chloride autoclave cleaner in Australia.
- Published in:
- 1991
- By:
- Publication type:
- journal article
A case of marked ascites and peripheral oedema.
- Published in:
- Medical Journal of Australia, 1987, v. 147, n. 58, p. 72, doi. 10.5694/j.1326-5377.1987.tb133263.x
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- Publication type:
- Article
A Molecular Host Response Assay to Discriminate Between Sepsis and Infection-Negative Systemic Inflammation in Critically Ill Patients: Discovery and Validation in Independent Cohorts.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Small Intestinal Mucosal Immunity and Morphometry in Luminal Overgrowth of Indigenous Gut Flora.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2001, v. 96, n. 2, p. 494, doi. 10.1111/j.1572-0241.2001.03533.x
- By:
- Publication type:
- Article
Evaluation of the Rice Breath Hydrogen Test for Small Intestinal Bacterial Overgrowth.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2000, v. 95, n. 10, p. 2858, doi. 10.1111/j.1572-0241.2000.02317.x
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- Publication type:
- Article