Found: 20
Select item for more details and to access through your institution.
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 1, p. 82, doi. 10.1111/j.1399-0004.2008.01024.x
- By:
- Publication type:
- Article
Neuregulin 3 (NRG3) as a susceptibility gene in a schizophrenia subtype with florid delusions and relatively spared cognition.
- Published in:
- Molecular Psychiatry, 2011, v. 16, n. 8, p. 860, doi. 10.1038/mp.2010.70
- By:
- Publication type:
- Article
Polymorphisms associated with normal memory variation also affect memory impairment in schizophrenia.
- Published in:
- Genes, Brain & Behavior, 2011, v. 10, n. 4, p. 410, doi. 10.1111/j.1601-183X.2011.00679.x
- By:
- Publication type:
- Article
Severe neuropsychiatric symptoms in two siblings with intermediate type of Niemann-Pick disease.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 9, p. 1434, doi. 10.1007/s00415-008-0953-0
- By:
- Publication type:
- Article
Exclusion of Linkage to the HLA Region in Ninety Multiplex Sibships with Autism.
- Published in:
- 1999
- By:
- Publication type:
- Journal Article
Vlax Roma history: what do coalescent-based methods tell us?
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 4, p. 285, doi. 10.1038/sj.ejhg.5201126
- By:
- Publication type:
- Article
Hereditary motor and sensory neuropathy - Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.
- Published in:
- Brain: A Journal of Neurology, 1998, v. 121, n. 3, p. 399, doi. 10.1093/brain/121.3.399
- By:
- Publication type:
- Article
Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome.
- Published in:
- Acta Neuropathologica, 1999, v. 98, n. 2, p. 165, doi. 10.1007/s004010051065
- By:
- Publication type:
- Article
Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies.
- Published in:
- 2001
- By:
- Publication type:
- journal article
SCREENING TECHNIQUES IN THE DUPLICATED REGION OF THE POLYCYSTIC KIDNEY DISEASE 1 (PKD1) GENE IN PKD1-LINKED AUSTRALIAN FAMILIES.
- Published in:
- 2002
- By:
- Publication type:
- Abstract
SMOKING AND RENAL FAILURE IN POLYCYSTIC KIDNEY DISEASE (ADPKD).
- Published in:
- 2002
- By:
- Publication type:
- Abstract
FINDINGS IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD).
- Published in:
- Nephrology, 2000, v. 5, n. 3, p. A108, doi. 10.1046/j.1440-1797.2000.abs168.x
- By:
- Publication type:
- Article
Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Cystic fibrosis patients from the black sea region: The 1677delTA mutation.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 353, doi. 10.1002/humu.1380030405
- By:
- Publication type:
- Article
Further Evidence of Cystic Fibrosis Heterogeneity in Southern Europe.
- Published in:
- Human Heredity, 1991, v. 41, n. 1, p. 65, doi. 10.1159/000153977
- By:
- Publication type:
- Article
Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct sequencing.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 6, p. 1033
- By:
- Publication type:
- Article
Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 3, p. 530
- By:
- Publication type:
- Article
Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 1, p. 57
- By:
- Publication type:
- Article
Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 3, p. 123, doi. 10.1111/j.1399-0004.1992.tb03647.x
- By:
- Publication type:
- Article
The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe.
- Published in:
- 2007
- By:
- Publication type:
- Letter