Found: 14
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Kufor‐Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese‐American Brothers.
- Published in:
- Movement Disorders Clinical Practice, 2018, v. 5, n. 1, p. 92, doi. 10.1002/mdc3.12567
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- Publication type:
- Article
CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63722
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- Publication type:
- Article
An additional case of Hennekam lymphangiectasia–lymphedema syndrome caused by loss‐of‐function mutation in ADAMTS3.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2858, doi. 10.1002/ajmg.a.40633
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- Publication type:
- Article
Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2505, doi. 10.1002/ajmg.a.38339
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- Publication type:
- Article
Three cases of Troyer syndrome in two families of Filipino descent.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1780, doi. 10.1002/ajmg.a.37658
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- Publication type:
- Article
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1330, doi. 10.1002/ajmg.a.37580
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- Publication type:
- Article
Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
- Published in:
- British Journal of Haematology, 2023, v. 200, n. 2, p. 222, doi. 10.1111/bjh.18491
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- Article
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
- Published in:
- Human Genetics, 2016, v. 135, n. 12, p. 1399, doi. 10.1007/s00439-016-1731-1
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- Publication type:
- Article
Strain-Dependent Modifier Genes Determine Survival in Zfp423 Mice.
- Published in:
- G3: Genes | Genomes | Genetics, 2020, v. 10, n. 11, p. 4241, doi. 10.1534/g3.120.401720
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- Article
Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
- Published in:
- Clinical Case Reports, 2018, v. 6, n. 7, p. 1208, doi. 10.1002/ccr3.1575
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- Publication type:
- Article
MAGEL2‐related disorders: A study and case series.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 6, p. 493, doi. 10.1111/cge.13620
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- Article
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
- Published in:
- 2016
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- Publication type:
- journal article
Modifier genes and non-genetic factors reshape anatomical deficits in Zfp423-deficient mice.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 19, p. 3822, doi. 10.1093/hmg/ddr300
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- Publication type:
- Article
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. 772, doi. 10.1002/humu.24342
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- Publication type:
- Article