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Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0126-2
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- Publication type:
- Article
Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0120-8
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- Publication type:
- Article
Novel genetic risk variants for pediatric celiac disease.
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- Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0091-1
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- Publication type:
- Article
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features.
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- Molecular Syndromology, 2022, v. 13, n. 1, p. 23, doi. 10.1159/000517848
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- Publication type:
- Article
Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON.
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- Molecular Syndromology, 2019, v. 10, n. 3, p. 171, doi. 10.1159/000497337
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- Publication type:
- Article
DNA methylation and repressive H3K9 and H3K27 trimethylation in the promoter regions of PD-1, CTLA-4, TIM-3, LAG-3, TIGIT, and PD-L1 genes in human primary breast cancer.
- Published in:
- Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0512-1
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- Publication type:
- Article
Associations of angiotensinogen gene mutations with hypertension and myocardial infarction in a gulf population.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 4, p. 285, doi. 10.1034/j.1399-0004.1998.5440405.x
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- Publication type:
- Article
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0526-8
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- Publication type:
- Article
A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder.
- Published in:
- Child Neurology Open, 2019, v. 6, p. N.PAG, doi. 10.1177/2329048X19880647
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- Publication type:
- Article
A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder.
- Published in:
- Child Neurology Open, 2019, v. 6, n. 7, p. N.PAG, doi. 10.1177/2329048X19880647
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- Publication type:
- Article
High tuberculosis and HIV coinfection rate, Johannesburg.
- Published in:
- 2007
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- Publication type:
- Letter
Evaluation of Visual Outcomes of Cataract Surgery in Diabetic Patients and Assessment of Post-operative Complications as Compared to Non-diabetics.
- Published in:
- Journal of Clinical & Diagnostic Research, 2019, v. 13, n. 3, p. 10, doi. 10.7860/JCDR/2019/37529.12711
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- Publication type:
- Article
Clinical Profile of Congenital and Developmental Cataract in a Tertiary Care Centre of Southern India.
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- Journal of Clinical & Diagnostic Research, 2018, v. 12, n. 9, p. 1, doi. 10.7860/JCDR/2018/36080.11986
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- Publication type:
- Article
A recessive truncating variant in thrombospondin‐1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1996, doi. 10.1002/ajmg.a.40424
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- Publication type:
- Article
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1257, doi. 10.1002/ajmg.a.38153
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- Publication type:
- Article
Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 540, doi. 10.1002/ajmg.a.37421
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- Publication type:
- Article
Gonadal Mosaicism in ARID1B Gene Causes Intellectual Disability and Dysmorphic Features in Three Siblings.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 156, doi. 10.1002/ajmg.a.37405
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- Publication type:
- Article
Further Reduction in Mother-To-Child Transmission of HIV in Barbados following intervention with HAART.
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- Journal of Eastern Caribbean Studies, 2011, v. 36, n. 4, p. 28
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- Publication type:
- Article
Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0540-x
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- Publication type:
- Article
Captopril as a Potential Inhibitor of Lung Tumor Growth and Metastasis.
- Published in:
- Annals of the New York Academy of Sciences, 2008, v. 1138, p. 65, doi. 10.1196/annals.1414.011
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- Publication type:
- Article
A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy.
- Published in:
- Journal of Molecular Neuroscience, 2015, v. 56, n. 1, p. 17, doi. 10.1007/s12031-014-0463-8
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- Publication type:
- Article
Shaping the future-ready doctor: a first-aid kit to address a gap in medical education.
- Published in:
- International Journal of Medical Education, 2020, v. 11, p. 248, doi. 10.5116/ijme.5fad.2d3a
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- Publication type:
- Article
Endoplasmic Reticulum Quality Control Is Involved in the Mechanism of Endoglin-Mediated Hereditary Haemorrhagic Telangiectasia.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026206
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- Publication type:
- Article
Efavirenz challenge in patients with nevirapine induced Stevens-Johnson Syndrome.
- Published in:
- Southern African Journal of Infectious Diseases, 2016, v. 31, n. 4, p. 119, doi. 10.1080/23120053.2016.1156874
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- Publication type:
- Article
The stability of the boundary layer on a compliant rotating disc.
- Published in:
- IMA Journal of Applied Mathematics, 2007, v. 72, n. 6, p. 761, doi. 10.1093/imamat/hxm038
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- Publication type:
- Article
GRP78/BiP alleviates oxLDL-induced hepatotoxicity in familial hypercholesterolemia caused by missense variants of LDLR in a HepG2 cellular model.
- Published in:
- Lipids in Health & Disease, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12944-023-01835-x
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- Publication type:
- Article
Control of human immunodeficiency virus replication by cytotoxic T lymphocytes targeting subdominant epitopes.
- Published in:
- Nature Immunology, 2006, v. 7, n. 2, p. 173, doi. 10.1038/ni1281
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- Publication type:
- Article
Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization.
- Published in:
- Frontiers in Cell & Developmental Biology, 2024, p. 1, doi. 10.3389/fcell.2024.1412236
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- Publication type:
- Article
Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature.
- Published in:
- Frontiers in Cell & Developmental Biology, 2023, p. 1, doi. 10.3389/fcell.2023.1294748
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- Publication type:
- Article
Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 4, p. 403, doi. 10.1111/cge.14107
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- Publication type:
- Article
Studies on N-Acetyltransferase (NAT2) Genotype Relationships in Emiratis: Confirmation of the Existence of Phenotype Variation among Slow Acetylators.
- Published in:
- Annals of Human Genetics, 2017, v. 81, n. 5, p. 190, doi. 10.1111/ahg.12198
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- Publication type:
- Article
Characterization of ACE2 naturally occurring missense variants: impact on subcellular localization and trafficking.
- Published in:
- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00411-1
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- Publication type:
- Article
Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.
- Published in:
- Molecular & Cellular Biochemistry, 2013, v. 373, n. 1/2, p. 247, doi. 10.1007/s11010-012-1496-3
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- Publication type:
- Article
Maximizing experiential co-curricular programs through Stakeholders' Theory: An explanatory mixed methods study.
- Published in:
- Journal of Experiential Education, 2022, v. 45, n. 4, p. 432, doi. 10.1177/10538259211073279
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- Publication type:
- Article
Leveraging the Added Value of Experiential Co-Curricular Programs to Humanize Medical Education.
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- Journal of Experiential Education, 2022, v. 45, n. 2, p. 172, doi. 10.1177/10538259211021444
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- Publication type:
- Article
Spectrum of genetic variants in bilateral sensorineural hearing loss.
- Published in:
- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1314535
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- Publication type:
- Article
Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1219514
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- Publication type:
- Article
Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia.
- Published in:
- FEBS Open Bio, 2019, v. 9, n. 11, p. 1994, doi. 10.1002/2211-5463.12740
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- Publication type:
- Article
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2239, doi. 10.1093/hmg/ddq103
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- Publication type:
- Article
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 2, p. 267
- By:
- Publication type:
- Article
Novel Pathogenic Variants Leading to Sporadic Amyotrophic Lateral Sclerosis in Greek Patients.
- Published in:
- Genes, 2024, v. 15, n. 3, p. 309, doi. 10.3390/genes15030309
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- Publication type:
- Article
Hepatitis B immune reconstitution syndrome in a patient with HIV infection.
- Published in:
- International Journal of STD & AIDS, 2016, v. 27, n. 12, p. 1126, doi. 10.1177/0956462416628320
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- Publication type:
- Article
Hepatitis B immune reconstitution syndrome in a patient with HIV infection.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Emtricitabine-induced pure red cell aplasia.
- Published in:
- Southern African Journal of HIV Medicine, 2019, v. 20, n. 1, p. 1, doi. 10.4102/sajhivmed.v20i1.983
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- Publication type:
- Article
Unilateral pulmonary vein atresia presenting with recurrent haemoptysis in a child: a case report.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Genetic polymorphisms of cytochrome P450-1A2 (CYP1A2) among Emiratis.
- Published in:
- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0183424
- By:
- Publication type:
- Article
A novel mutation in DDR2 causing spondylo-metaepiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intracellular trafficking.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-42
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- Publication type:
- Article