Found: 21
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The Smith-Lemli-Opitz Syndrome.
- Published in:
- Clinical Pediatrics, 1977, v. 16, n. 7, p. 665, doi. 10.1177/000992287701600717
- By:
- Publication type:
- Article
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 5, p. 372, doi. 10.1038/sj.ejhg.5200471
- By:
- Publication type:
- Article
XERODERMA PIGMENTOSUM.
- Published in:
- British Journal of Dermatology, 1973, v. 88, n. 5, p. 513, doi. 10.1111/j.1365-2133.1973.tb15461.x
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- Publication type:
- Article
Connexin Mutation Testing of Children with Nonsyndromic, Autosomal Recessive Sensorineural Hearing Loss.
- Published in:
- Journal of Otolaryngology, 2004, v. 33, n. 3, p. 189, doi. 10.2310/7070.2004.00189
- By:
- Publication type:
- Article
BILATERAL TIBIAL APLASIA WITH LOBSTER-CLAW HANDS A Rare Genetic Entity.
- Published in:
- Acta Paediatrica, 1973, v. 62, n. 1, p. 77, doi. 10.1111/j.1651-2227.1973.tb08070.x
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- Publication type:
- Article
THE GENETIC DEFECT IN THE DE SANCTIS-CACCHIONE SYNDROME.
- Published in:
- Journal of Investigative Dermatology, 1974, v. 63, n. 5, p. 392, doi. 10.1111/1523-1747.ep12676556
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- Publication type:
- Article
Positional cloning of the gene for Nijmegen breakage syndrome.
- Published in:
- Nature Genetics, 1998, v. 19, n. 2, p. 179, doi. 10.1038/549
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- Publication type:
- Article
Prolidase Deficiency.
- Published in:
- 1986
- By:
- Publication type:
- Editorial
A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2538, doi. 10.1002/ajmg.a.34198
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- Publication type:
- Article
In memoriam: Ahmad S. Teebi, 1949-2010.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1507, doi. 10.1002/ajmg.a.34069
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- Publication type:
- Article
Acrodermatitis Enteropathica.
- Published in:
- Clinical Pediatrics, 1973, v. 12, n. 7, p. 393
- By:
- Publication type:
- Article
Differential impact of the FMR1 gene on visual processing in fragile X syndrome.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Differential impact of the FMR1 gene on visual processing in fragile X syndrome.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 3, p. 591
- By:
- Publication type:
- Article
Hereditary Hearing Loss and Its Syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 852, doi. 10.1002/ajmg.a.36311
- By:
- Publication type:
- Article
A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 4, p. 572, doi. 10.1002/ana.20237
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- Publication type:
- Article
Localization of the Usher Syndrome Type ID Gene (Ush1D) to Chromosome 10.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1689, doi. 10.1093/hmg/5.10.1689
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- Publication type:
- Article
The Gene Responsible for Clouston Hidrotic Ectodermal Dysplasia Maps to the Pericentromeric Region of Chromosome 13q.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 543, doi. 10.1093/hmg/5.4.543
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- Publication type:
- Article
No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 6, p. 927
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- Publication type:
- Article
Genital anomaly and cardiomyopathy: a new syndrome.
- Published in:
- Clinical Genetics, 1984, v. 26, n. 4, p. 371, doi. 10.1111/j.1399-0004.1984.tb01073.x
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- Publication type:
- Article
Interstitial deletion of band q12 of chromosome 5.
- Published in:
- Clinical Genetics, 1984, v. 25, n. 5, p. 455, doi. 10.1111/j.1399-0004.1984.tb02016.x
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- Publication type:
- Article
Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder.
- Published in:
- Clinical Genetics, 1984, v. 25, n. 3, p. 278, doi. 10.1111/j.1399-0004.1984.tb01990.x
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- Publication type:
- Article