Found: 13
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VHL P25L is not a Pathogenic von Hippel-Lindau Mutation.
- Published in:
- Molecular Diagnosis & Therapy, 2006, v. 10, n. 4, p. 239, doi. 10.1007/BF03256462
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- Publication type:
- Article
Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease.
- Published in:
- 2014
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- Publication type:
- Other
Hexosaminidase a activity and amyotrophic lateral sclerosis.
- Published in:
- Muscle & Nerve, 1988, v. 11, n. 3, p. 227, doi. 10.1002/mus.880110307
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- Publication type:
- Article
Antenatal Diagnosis of Recessive Dystrophic Epidermolysis Bullosa: Collagenase Expression in Cultured Fibroblasts as a Biochemical Marker.
- Published in:
- Journal of Investigative Dermatology, 1986, v. 87, n. 5, p. 597, doi. 10.1111/1523-1747.ep12455843
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- Publication type:
- Article
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
- Published in:
- Nature Genetics, 2009, v. 41, n. 6, p. 651, doi. 10.1038/ng.359
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- Publication type:
- Article
Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants.
- Published in:
- Breast Cancer Research & Treatment, 2020, v. 181, n. 2, p. 445, doi. 10.1007/s10549-020-05633-2
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- Publication type:
- Article
The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
- Published in:
- Breast Cancer Research & Treatment, 2019, v. 178, n. 1, p. 231, doi. 10.1007/s10549-019-05379-6
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- Publication type:
- Article
Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?
- Published in:
- Familial Cancer, 2022, v. 21, n. 2, p. 121, doi. 10.1007/s10689-021-00255-z
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- Publication type:
- Article
Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: Case report and review of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 406, doi. 10.1002/ajmg.a.34272
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- Publication type:
- Article
JAK2 V617F positive polycythemia Vera in a child with neurofibromatosis type I.
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- Pediatric Blood & Cancer, 2008, v. 51, n. 5, p. 689, doi. 10.1002/pbc.21659
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- Publication type:
- Article
RFT1 deficiency in three novel CDG patients.
- Published in:
- Human Mutation, 2009, v. 30, n. 10, p. 1428, doi. 10.1002/humu.21085
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- Publication type:
- Article
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the α-galactosidase A gene.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1795
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- Publication type:
- Article
Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants.
- Published in:
- Clinical Genetics, 1985, v. 27, n. 5, p. 443, doi. 10.1111/j.1399-0004.1985.tb00229.x
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- Publication type:
- Article