Found: 15
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Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.
- Published in:
- Frontiers in Oncology, 2023, p. 01, doi. 10.3389/fonc.2023.1195814
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- Publication type:
- Article
Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.
- Published in:
- 2015
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- Publication type:
- corrected article
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.
- Published in:
- 2015
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- Publication type:
- journal article
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1081, doi. 10.1002/ajmg.a.62065
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- Publication type:
- Article
Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.
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- Journal of Molecular Neuroscience, 2020, v. 70, n. 7, p. 1100, doi. 10.1007/s12031-020-01516-9
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- Publication type:
- Article
Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation.
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- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01189-w
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- Article
Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.
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- Thyroid, 2018, v. 28, n. 7, p. 941, doi. 10.1089/thy.2017.0502
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- Publication type:
- Article
First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.
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- Molecular Biology Reports, 2016, v. 43, n. 3, p. 165, doi. 10.1007/s11033-016-3951-9
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- Publication type:
- Article
Annexin A1 and its receptor gene polymorphisms in systemic lupus erythematosus in the Tunisian population.
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- Clinical Rheumatology, 2022, v. 41, n. 5, p. 1359, doi. 10.1007/s10067-022-06057-7
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- Publication type:
- Article
High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.
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- Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.545339
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- Article
Chromosomal defects in infertile men with poor semen quality.
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- Journal of Assisted Reproduction & Genetics, 2012, v. 29, n. 5, p. 451, doi. 10.1007/s10815-012-9737-7
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- Publication type:
- Article
Novel Mutations in the C-Terminal Region of the MECP2 Gene in Tunisian Rett Syndrome Patients.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 5, p. 564, doi. 10.1177/0883073811420496
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- Publication type:
- Article
Mutational Analysis of the MECP2 Gene in Tunisian Patients With Rett Syndrome: A Novel Double Mutation.
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- Journal of Child Neurology, 2010, v. 25, n. 8, p. 1042, doi. 10.1177/0883073809356353
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- Publication type:
- Article
Detection of a novel mutation in a Tunisian child with polycystic kidney disease.
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- IUBMB Life, 2020, v. 72, n. 8, p. 1799, doi. 10.1002/iub.2309
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- Publication type:
- Article
A novel de novo splicing mutation c.1444‐2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.
- Published in:
- IUBMB Life, 2019, v. 71, n. 12, p. 1937, doi. 10.1002/iub.2134
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- Publication type:
- Article