Found: 24
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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
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- Publication type:
- journal article
A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype.
- Published in:
- Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/8872294
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- Publication type:
- Article
Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome.
- Published in:
- 2016
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- Publication type:
- Case Study
Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 764, doi. 10.1002/ajmg.a.36329
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- Article
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 4, p. 452, doi. 10.1038/ng1764
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- Article
Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome.
- Published in:
- Nature Genetics, 2002, v. 32, n. 3, p. 448
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- Publication type:
- Article
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 261, doi. 10.1038/90100
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- Publication type:
- Article
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
- Published in:
- 2016
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- Publication type:
- Case Study
A Novel Missense Norrie Disease Mutation Associated With a Severe Ocular Phenotype.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2004, v. 41, n. 6, p. 361, doi. 10.3928/01913913-20041101-10
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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.
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- 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
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 1, p. 26, doi. 10.1002/acn3.372
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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
Absence of GPR54 and TACR3 Mutations in Sporadic Cases of Idiopathic Central Precocious Puberty.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 3, p. 177, doi. 10.1159/000356913
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- Publication type:
- Article
Comparison of the antiplatelet effect of clopidogrel hydrogenosulfate and clopidogrel besylate in patients with stable coronary artery disease.
- Published in:
- Journal of Thrombosis & Thrombolysis, 2015, v. 40, n. 3, p. 288, doi. 10.1007/s11239-015-1173-y
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- Publication type:
- Article
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
- Published in:
- Human Mutation, 2019, v. 40, n. 3, p. 267, doi. 10.1002/humu.23694
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- Publication type:
- Article
Cover Image, Volume 40, Issue 3.
- Published in:
- Human Mutation, 2019, v. 40, n. 3, p. i, doi. 10.1002/humu.22892
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- Publication type:
- Article
Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1369, doi. 10.3390/genes13081369
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- Publication type:
- Article
Lack of Association of Lipoprotein Lipase Gene Polymorphisms With Coronary Artery Disease in the Saudi Arab Population.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2003, v. 127, n. 5, p. 597, doi. 10.5858/2003-127-0597-loaoll
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- Publication type:
- Article
Neurodegenerative Huntington-like disorder.
- Published in:
- 2001
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- Publication type:
- journal article
Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 64, doi. 10.1002/(SICI)1098-1004(1996)8:1<64::AID-HUMU9>3.0.CO;2-P
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- Publication type:
- Article
The genetic landscape of autism spectrum disorder in the Middle Eastern population.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1363849
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- Publication type:
- Article
Mutation of p16, p21 or cyclin dependent kinase 4 is rare in acute lymphoblastic leukaemia.
- Published in:
- British Journal of Haematology, 1998, v. 103, n. 2, p. 467, doi. 10.1046/j.1365-2141.1998.00974.x
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- Publication type:
- Article