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Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 4, p. 404, doi. 10.1111/j.1399-0004.2009.01211.x
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- Article
Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
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- Clinical Genetics, 2008, v. 74, n. 1, p. 16, doi. 10.1111/j.1399-0004.2008.00985.x
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- Article
Susceptibility genes in breast cancer: more is less?
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- Clinical Genetics, 2007, v. 72, n. 6, p. 493, doi. 10.1111/j.1399-0004.2007.00909.x
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- Article
A de novo GLI 3 mutation in a patient with acrocallosal syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1394, doi. 10.1002/ajmg.a.35874
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- Article
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2412, doi. 10.1002/ajmg.a.35517
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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
Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome.
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- Prenatal Diagnosis, 2003, v. 23, n. 3, p. 239, doi. 10.1002/pd.551
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- Article
Prenatal exclusion of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency by direct detection of the mutation with PCR.
- Published in:
- 1992
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- Publication type:
- Case Study
Primer availability.
- Published in:
- Nature, 1989, v. 337, n. 6202, p. 10, doi. 10.1038/337010b0
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- Publication type:
- Article
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.
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- Human Genetics, 2008, v. 122, n. 6, p. 595, doi. 10.1007/s00439-007-0436-x
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- Publication type:
- Article
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 224, doi. 10.1038/ejhg.2014.61
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- Article
Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging.
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- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 526, doi. 10.1038/sj.ejhg.5200348
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- Publication type:
- Article
Spectrum of mutations in fucosidosis.
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- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 60, doi. 10.1038/sj.ejhg.5200272
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- Publication type:
- Article
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNA<sup>Ser(UCN)</sup> gene.
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- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 45, doi. 10.1038/sj.ejhg.5200247
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- Publication type:
- Article
A fragile gene.
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- BioEssays, 1995, v. 17, n. 11, p. 941, doi. 10.1002/bies.950171107
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- Publication type:
- Article
Bottlenecks in molecular testing for rare genetic diseases.
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- Human Mutation, 2008, v. 29, n. 6, p. 772, doi. 10.1002/humu.20756
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- Publication type:
- Article
A Novel Pathogenic DNA Variation in the OCRL1 Gene in Lowe Syndrome.
- Published in:
- 2011
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- Publication type:
- Case Study
Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
- Published in:
- Nature Genetics, 1998, v. 20, n. 2, p. 194, doi. 10.1038/2503
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- Publication type:
- Article
A novel frameshift mutation (1651ins5) in exon 10 of the CFTR gene can be misinterpreted as a ΔF508 mutation.
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- Human Mutation, 1999, v. 14, n. 3, p. 271, doi. 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU15>3.0.CO;2-N
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- Publication type:
- Article
Evidence for somatic and germline mosaicism in CRASH syndrome.
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- Human Mutation, 1998, v. 11, p. S284, doi. 10.1002/humu.1380110189
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- Publication type:
- Article
A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28).
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- Human Mutation, 1996, v. 8, n. 4, p. 391, doi. 10.1002/(SICI)1098-1004(1996)8:4<391::AID-HUMU19>3.0.CO;2-Y
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- Publication type:
- Article
A single-base deletion mutation in a Turkish patient with fucosidosis.
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- Human Mutation, 1994, v. 3, n. 4, p. 407, doi. 10.1002/humu.1380030416
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- Publication type:
- Article
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern Europe.
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- Human Heredity, 1993, v. 43, n. 6, p. 342, doi. 10.1159/000154157
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- Publication type:
- Article
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1321, doi. 10.1093/hmg/8.7.1321
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- Article
The spectrum of mutations in UBE3A causing Angelman syndrome.
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- Human Molecular Genetics, 1999, v. 8, n. 1, p. 129, doi. 10.1093/hmg/8.1.129
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- Publication type:
- Article
Two frequent missense mutations in Pendred syndrome.
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- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1099, doi. 10.1093/hmg/7.7.1099
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- Publication type:
- Article
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.
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- Human Molecular Genetics, 1998, v. 7, n. 6, p. 999, doi. 10.1093/hmg/7.6.999
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- Article
Localization of a gene for otosclerosis to chromosome 15q25-q26.
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 285, doi. 10.1093/hmg/7.2.285
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- Publication type:
- Article
L1-Associated Diseases: Clinical Geneticists Divide, Molecular Geneticists Unite.
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- Human Molecular Genetics, 1997, v. 6, n. 10, p. 1625, doi. 10.1093/hmg/6.10.1625
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- Publication type:
- Article
FMRP is Associated to the Ribosomes Via RNA.
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- Human Molecular Genetics, 1996, v. 5, n. 6, p. 809, doi. 10.1093/hmg/5.6.809
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- Publication type:
- Article
X-Linked Liver Glycogenosis Type II (XLg II) Is Caused by Mutations in PHKA2, the Gene Encoding the Liver α Subunit of Phosphorylase Kinase.
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- Human Molecular Genetics, 1996, v. 5, n. 5, p. 649, doi. 10.1093/hmg/5.5.649
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- Publication type:
- Article
Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.
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- Human Molecular Genetics, 1995, v. 4, n. 11, p. 2159
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- Publication type:
- Article
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
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- Human Molecular Genetics, 1994, v. 3, n. 12, p. 2255
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- Publication type:
- Article
Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 671
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- Publication type:
- Article
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.
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- Human Molecular Genetics, 1994, v. 3, n. 1, p. 167
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- Article
Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.
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- Human Molecular Genetics, 1993, v. 2, n. 8, p. 1205
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- Article
X-linked liver glycogenosis: localization and isolation of a candidate gene.
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- Human Molecular Genetics, 1993, v. 2, n. 5, p. 583
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- Publication type:
- Article
Fucosidosis: four new mutations and a new polymorphism.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 423
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- Publication type:
- Article
Alternative splicing in the fragile X gene FMR1.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 4, p. 399
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- Article
Segregation of the fragile X mutation from an affected male to his normal daughter.
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- Human Molecular Genetics, 1992, v. 1, n. 7, p. 511
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- Publication type:
- Article
Frequency of the phenylalanine deletion (ΔF.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 2, p. 89, doi. 10.1111/j.1399-0004.1991.tb02992.x
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- Article
A new family with the Townes-Brocks syndrome.
- Published in:
- Clinical Genetics, 1988, v. 34, n. 3, p. 195, doi. 10.1111/j.1399-0004.1988.tb02862.x
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- Publication type:
- Article