Found: 12
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Ganglioside catabolism in hexosaminidase A-deficient adults.
- Published in:
- Nature, 1974, v. 252, n. 5480, p. 254, doi. 10.1038/252254a0
- By:
- Publication type:
- Article
A SURVEY OF AMNIOCENTESIS IN 925 PATIENTS AT HIGH RISK OF FETAL GENETIC DISORDER.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1977, v. 84, n. 11, p. 808, doi. 10.1111/j.1471-0528.1977.tb12500.x
- By:
- Publication type:
- Article
Chromosome 10q harbors a susceptibility locus for bipolar disorder in Ashkenazi Jewish families.
- Published in:
- Molecular Psychiatry, 2008, v. 13, n. 4, p. 442, doi. 10.1038/sj.mp.4002039
- By:
- Publication type:
- Article
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Adult-onset GM2 gangliosidosis diagnosed in a fetus.
- Published in:
- 1986
- By:
- Publication type:
- journal article
Deubiquitination of EGFR by Cezanne-1 contributes to cancer progression.
- Published in:
- Oncogene, 2012, v. 31, n. 43, p. 4599, doi. 10.1038/onc.2011.587
- By:
- Publication type:
- Article
Hepatic Lipid Metabolism in Hypophysectomized and Growth Hormone-Treated Hypophysectomized Rats.
- Published in:
- Proceedings of the Society for Experimental Biology & Medicine, 1970, v. 133, n. 4, p. 1346, doi. 10.3181/00379727-133-34686
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- Publication type:
- Article
A steroid metabolomic approach to 17α-hydroxylase/17,20 lyase deficiency.
- Published in:
- Metabolomics, 2010, v. 6, n. 3, p. 417, doi. 10.1007/s11306-010-0217-8
- By:
- Publication type:
- Article
Neurocognitive testing in late-onset Tay–Sachs disease: A pilot study.
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 518, doi. 10.1007/s10545-008-0884-z
- By:
- Publication type:
- Article
hKCa3/KCNN3potassium channel gene: association of longer CAG repeats with schizophrenia in Israeli Ashkenazi Jews, expression in human tissues and localization to chromosome 1q21.
- Published in:
- Molecular Psychiatry, 1999, v. 4, n. 3, p. 254, doi. 10.1038/sj.mp.4000508
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- Publication type:
- Article
Clinical and genetic variations in the syndrome of adult GM<sub>2</sub> gangliodosis resulting from hexosaminidase a deficiency.
- Published in:
- Annals of Neurology, 1984, v. 16, n. 1, p. 14, doi. 10.1002/ana.410160105
- By:
- Publication type:
- Article
Determination of Tay-Sachs genotypes in pregnant women.
- Published in:
- Clinical Genetics, 1973, v. 4, n. 3, p. 286, doi. 10.1111/j.1399-0004.1973.tb01158.x
- By:
- Publication type:
- Article