Found: 33
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A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant.
- Published in:
- Journal of the Endocrine Society, 2020, v. 4, n. 8, p. 1, doi. 10.1210/jendso/bvaa088
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- Publication type:
- Article
Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.
- Published in:
- Journal of Molecular Medicine, 2006, v. 84, n. 3, p. 226, doi. 10.1007/s00109-005-0015-3
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- Publication type:
- Article
Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 3, p. 367, doi. 10.3390/biom11030367
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- Publication type:
- Article
Further delineation of El-Shanti syndrome.
- Published in:
- 2004
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- Publication type:
- case study
Alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome.
- Published in:
- European Journal of Pediatrics, 2003, v. 162, n. 1, p. 36, doi. 10.1007/s00431-002-1108-4
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- Publication type:
- Article
Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.
- Published in:
- 2017
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- Publication type:
- Case Study
Type II diabetes mellitus and hyperhomocysteinemia: a complex interaction.
- Published in:
- Diabetology & Metabolic Syndrome, 2017, v. 9, p. 1, doi. 10.1186/s13098-017-0218-0
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- Publication type:
- Article
Congenital glucose‐galactose malabsorption: A case report with a novel SLC5A1 mutation.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 1, p. 51, doi. 10.1002/ccr3.1913
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- Publication type:
- Article
A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 6, p. 1013, doi. 10.1002/ccr3.945
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- Publication type:
- Article
Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder.
- Published in:
- Clinical Case Reports, 2016, v. 4, n. 12, p. 1125, doi. 10.1002/ccr3.705
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- Publication type:
- Article
Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features.
- Published in:
- Clinical Case Reports, 2014, v. 2, n. 5, p. 201, doi. 10.1002/ccr3.94
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- Publication type:
- Article
Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report.
- Published in:
- 2015
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- Publication type:
- Case Study
Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 251, doi. 10.1038/sj.ejhg.5200187
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- Publication type:
- Article
TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.
- Published in:
- 2022
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- Publication type:
- Case Study
Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 761, doi. 10.3390/genes12050761
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- Publication type:
- Article
Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005022
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- Publication type:
- Article
Induction of chromosomal aberrations by the rhodium(III) complex cis-[Rh(biq)2Cl2]Cl in cultured human lymphocytes.
- Published in:
- Mutagenesis, 2000, v. 15, n. 5, p. 375, doi. 10.1093/mutage/15.5.375
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- Publication type:
- Article
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
- Published in:
- Nature Genetics, 1999, v. 23, n. 1, p. 94, doi. 10.1038/12699
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- Publication type:
- Article
Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population.
- Published in:
- 2011
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- Publication type:
- Journal Article
Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population.
- Published in:
- Rheumatology, 2011, v. 50, n. 12, p. 2306, doi. 10.1093/rheumatology/ker328
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- Publication type:
- Article
The infevers autoinflammatory mutation online registry: update with new genes and functions.
- Published in:
- 2008
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- Publication type:
- Other
Caffeine Impact on Metabolic Syndrome Components Is Modulated by a CYP1A2 Variant.
- Published in:
- Annals of Nutrition & Metabolism, 2016, v. 68, n. 1, p. 1, doi. 10.1159/000441481
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- Publication type:
- Article
Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar.
- Published in:
- 2015
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- Publication type:
- journal article
Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome".
- Published in:
- 2002
- By:
- Publication type:
- case study
The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Familial disorder of sex determination in seven individuals from three related sibships.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Epidermal Nevus Syndrome: Subgroup With Neuronal Migration Defects.
- Published in:
- Journal of Child Neurology, 1992, v. 7, n. 1, p. 29, doi. 10.1177/088307389200700105
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- Publication type:
- Article
Overlap of Familial Mediterranean Fever and Hyper-IgD Syndrome in an Arabic Kindred.
- Published in:
- Journal of Clinical Immunology, 2015, v. 35, n. 3, p. 249, doi. 10.1007/s10875-015-0140-x
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- Publication type:
- Article
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/1750-1172-9-80
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- Publication type:
- Article
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.
- Published in:
- 2014
- By:
- Publication type:
- journal article
T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep07351
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- Publication type:
- Article