Found: 22
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Genetic profile of borderline ovarian tumors in the Lebanese population by whole‐exome sequencing.
- Published in:
- International Journal of Gynecology & Obstetrics, 2023, v. 162, n. 3, p. 1027, doi. 10.1002/ijgo.14805
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- Article
Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy?
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1185, doi. 10.1002/ajmg.a.35279
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- Article
Genetic Polymorphisms Involved in Bladder Cancer: A Global Review.
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- Oncology Reviews, 2023, p. 1, doi. 10.3389/or.2023.10603
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- Article
Genetic susceptibility of bladder cancer in the Lebanese population.
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- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01372-z
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- Article
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1323, doi. 10.1007/s00439-019-02076-8
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- Article
Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1364, doi. 10.1038/ejhg.2014.246
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- Article
Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.
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- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1434, doi. 10.1038/ejhg.2015.17
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- Article
Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1195, doi. 10.1038/sj.ejhg.5201688
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- Article
Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient.
- Published in:
- European Journal of Endocrinology, 2005, v. 152, n. 6, p. 813, doi. 10.1530/eje.1.01915
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- Publication type:
- Article
Actionable Exomic Secondary Findings in 280 Lebanese Participants.
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- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00208
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- Article
Familial Mediterranean Fever In Lebanon: Founder Effects For Different MEFV Mutations.
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- Annals of Human Genetics, 2008, v. 72, n. 1, p. 41, doi. 10.1111/j.1469-1809.2007.00386.x
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- Publication type:
- Article
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0474-y
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- Publication type:
- Article
Next-generation sequencing in familial breast cancer patients from Lebanon.
- Published in:
- BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0244-7
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- Publication type:
- Article
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
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- BMC Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12863-017-0471-0
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- Publication type:
- Article
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.
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- Clinical Genetics, 2020, v. 98, n. 3, p. 288, doi. 10.1111/cge.13799
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- Publication type:
- Article
Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0130-y
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- Publication type:
- Article
Molecular profiling of basal cell carcinomas in young patients.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01030-w
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- Article
A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome.
- Published in:
- 2020
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- Publication type:
- Letter
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1147, doi. 10.1002/ajmg.a.33938
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- Publication type:
- Article
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 880, doi. 10.1002/ajmg.a.33879
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- Publication type:
- Article
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.
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- Neurogenetics, 2011, v. 12, n. 1, p. 73, doi. 10.1007/s10048-010-0256-3
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- Publication type:
- Article
1 Novel MEFV transcripts in Familial Mediterranean fever patients and controls.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 87, doi. 10.1186/1471-2350-11-87
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- Publication type:
- Article