Becker's allelic model to explain unusual pedigrees with spinal muscular atrophy.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 4, p. 276, doi. 10.1111/j.1399-0004.1987.tb02807.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1987 AND VI 31 AND IP 4
Results: 13
1
2
A phenotypic male with true hermaphroditism and a 46,XX/46,XY/ 47,XXY karyotype.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 4, p. 243, doi. 10.1111/j.1399-0004.1987.tb02802.x
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- Publication type:
- Article
3
Molecular heterogeneity of translocations associated with muscular dystrophy.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 4, p. 265, doi. 10.1111/j.1399-0004.1987.tb02805.x
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- Publication type:
- Article
4
Adult Turner syndrome associated with chylous ascites and vascular anomalies.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 4, p. 218, doi. 10.1111/j.1399-0004.1987.tb02799.x
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- Publication type:
- Article
5
A new interstitial deletion of chromosome No. 4 del(4) (q22::q25).
- Published in:
- Clinical Genetics, 1987, v. 31, n. 4, p. 199, doi. 10.1111/j.1399-0004.1987.tb02796.x
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- Publication type:
- Article
6
Kallmann syndrome associated with choanal atresia.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 4, p. 224, doi. 10.1111/j.1399-0004.1987.tb02800.x
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- Publication type:
- Article
7
Contribution to the 18q- syndrome. A patient with del (18) (q22.3qter).
- Published in:
- Clinical Genetics, 1987, v. 31, n. 4, p. 206, doi. 10.1111/j.1399-0004.1987.tb02797.x
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- Publication type:
- Article
8
Albinism, or the NOACH syndrome.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 4, p. 228, doi. 10.1111/j.1399-0004.1987.tb02801.x
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- Publication type:
- Article
9
28th Annual Short Course in Medical and Experimental Mammalian Genetics.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 4, p. 278, doi. 10.1111/j.1399-0004.1987.tb02808.x
- Publication type:
- Article
10
Autosomal recessive inheritance of idiopathic dilated cardiomyopathy in a Madeira Portuguese kindred.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 4, p. 249, doi. 10.1111/j.1399-0004.1987.tb02803.x
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- Publication type:
- Article
11
Diagnosis of arylsulfatase A deficiency in intact cultured cells using a fluorescent derivative of cerebroside sulfate.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 4, p. 211, doi. 10.1111/j.1399-0004.1987.tb02798.x
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- Publication type:
- Article
12
A final word on the tricho-rhino-phalangeal syndromes.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 4, p. 273, doi. 10.1111/j.1399-0004.1987.tb02806.x
- By:
- Publication type:
- Article
13
Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 4, p. 255, doi. 10.1111/j.1399-0004.1987.tb02804.x
- By:
- Publication type:
- Article