Found: 22
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A homozygous missense variant in PTPN2 with early-onset Crohn's disease, growth failure and dysmorphic features in an infant: a case report.
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- Journal of Genetics, 2023, v. 102, n. 2, p. 1, doi. 10.1007/s12041-023-01433-x
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- Article
Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 2, p. 1, doi. 10.1002/mgg3.2058
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- Article
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
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- Nature Genetics, 2006, v. 38, n. 5, p. 521, doi. 10.1038/ng1771
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A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
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- Nature Genetics, 2000, v. 26, n. 1, p. 51, doi. 10.1038/79171
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CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1107, doi. 10.1038/ejhg.2010.82
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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.
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- European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1195, doi. 10.1038/sj.ejhg.5201688
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- Article
Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.
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- European Journal of Human Genetics, 2002, v. 10, n. 6, p. 391, doi. 10.1038/sj.ejhg.5200813
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- Article
Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 849, doi. 10.1038/sj.ejhg.5200725
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- Article
Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.
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- European Journal of Human Genetics, 2001, v. 9, n. 1, p. 51, doi. 10.1038/sj.ejhg.5200574
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- Article
X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 704
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- Article
Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness.
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- European Journal of Human Genetics, 1998, v. 6, n. 6, p. 548, doi. 10.1038/sj.ejhg.5200261
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A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36.
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- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 245, doi. 10.1038/sj.ejhg.5200177
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- Article
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
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- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0474-y
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- 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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- Article
Novel SCN9A variant associated with congenital insensitivity to pain.
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- Molecular Biology Reports, 2023, v. 50, n. 7, p. 6293, doi. 10.1007/s11033-023-08507-0
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The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
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- Human Mutation, 2009, v. 30, n. 7, p. E682, doi. 10.1002/humu.21002
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- Article
Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous lebanese family.
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- Annals of Neurology, 2001, v. 50, n. 2, p. 250, doi. 10.1002/ana.1286
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- Article
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
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- Nature Genetics, 1999, v. 21, n. 4, p. 363, doi. 10.1038/7693
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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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- Article
Mapping of DFNB12, a Gene for a Non-Syndromal Autosomal Recessive Deafness, to Chromosome 10q21–22.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1061, doi. 10.1093/hmg/5.7.1061
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A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22–23.
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- Human Molecular Genetics, 1996, v. 5, n. 1, p. 155, doi. 10.1093/hmg/5.1.155
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- Article
Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects.
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- BMC Medical Genetics, 2004, v. 5, p. 1
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- Article