Found: 27
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Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 18, p. 5009, doi. 10.1093/hmg/ddu218
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- Publication type:
- Article
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 12, p. 2257, doi. 10.1093/hmg/ddp161
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- Publication type:
- Article
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 16, p. 2509, doi. 10.1093/hmg/ddl172
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- Publication type:
- Article
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 11, p. 1503, doi. 10.1093/hmg/ddi159
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- Publication type:
- Article
Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings.
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- Molecular Syndromology, 2014, v. 5, n. 6, p. 299, doi. 10.1159/000366074
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- Publication type:
- Article
Application of the Dutch, Finnish and British Screening Guidelines in a Cohort of Children with Growth Failure.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 84, n. 6, p. 376, doi. 10.1159/000440652
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- Publication type:
- Article
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
- Published in:
- Nature Genetics, 1998, v. 20, n. 2, p. 180, doi. 10.1038/2484
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- Publication type:
- Article
Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.
- Published in:
- 2012
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- Publication type:
- Other
Rett syndrome: A study of the face.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1563, doi. 10.1002/ajmg.a.34027
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- Publication type:
- Article
The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1066, doi. 10.1002/ajmg.a.33991
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- Publication type:
- Article
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 228, doi. 10.1002/ajmg.a.33768
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- Publication type:
- Article
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
- Published in:
- Human Mutation, 1998, v. 11, p. S62, doi. 10.1002/humu.1380110122
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- Publication type:
- Article
Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall- Smith Syndrome.
- Published in:
- Human Mutation, 2014, v. 35, n. 9, p. 1092, doi. 10.1002/humu.22603
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- Publication type:
- Article
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. 1142, doi. 10.1002/humu.21328
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- Publication type:
- Article
Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 49, doi. 10.1111/j.1399-0004.1996.tb04325.x
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- Publication type:
- Article
Severe Cenani-Lenz syndrome caused by loss of LRP4 function.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1475, doi. 10.1002/ajmg.a.35920
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- Publication type:
- Article
Elements of morphology: Standard terminology for the external genitalia.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1238, doi. 10.1002/ajmg.a.35934
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- Publication type:
- Article
Intellectual Disability and Hemizygous GPD 2 Mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1044, doi. 10.1002/ajmg.a.35873
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- Publication type:
- Article
Singleton-Merten syndrome: An autosomal dominant disorder with variable expression.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 360, doi. 10.1002/ajmg.a.35732
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- Publication type:
- Article
Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability.
- Published in:
- 2012
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- Publication type:
- Other
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1719, doi. 10.1002/ajmg.a.35406
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- Publication type:
- Article
Editorial comment: New diagnostic criteria for Marfan syndrome.
- Published in:
- 2012
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- Publication type:
- Editorial
The idic(15) syndrome: Expanding the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1505, doi. 10.1002/ajmg.a.35366
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- Publication type:
- Article
Prevalence of Symptomatic Intracranial Aneurysm and Ischaemic Stroke in Pseudoxanthoma Elasticum.
- Published in:
- Cerebrovascular Diseases, 2000, v. 10, n. 4, p. 315, doi. 10.1159/000016076
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- Publication type:
- Article
Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14.
- Published in:
- Clinical Endocrinology, 2015, v. 83, n. 5, p. 671, doi. 10.1111/cen.12841
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- Publication type:
- Article
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein–Taybi syndrome.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 4, p. 441, doi. 10.1093/hmg/ddg039
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- Publication type:
- Article
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 5, p. 467, doi. 10.1093/hmg/10.5.467
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- Publication type:
- Article