Volume 22; Issue 3

Journal of Medical Genetics

Volume 22; Issue 3

1

Prenatal Diagnosis. Special Issue. Collaborative Studies in Prenatal Diagnosis of Chromosome Aberrations

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 174 KB

english, 1985

2

Editorial

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 415 KB

english, 1985

3

Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.

Wilson, G N, Sauder, S E, Bush, M, Beitins, I Z

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 556 KB

english, 1985

4

Catalogue of Unbalanced Chromosome Aberrations in Man

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 343 KB

english, 1985

5

Interstitial deletion 2q24.3: case report with high resolution banding.

Bernar, J, Sparkes, R S, Allensworth, S

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 441 KB

english, 1985

6

Extra Yq and partial monosomy 12p due to a Y;12 translocation in a boy with features of the 12p deletion syndrome.

Orye, E, Craen, M, Laureys, G, van Coster, R, van Mele, B

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 494 KB

english, 1985

7

Clinical and haematological evaluation of beta thalassaemia intermedia characterised by unusually low Hb F and increased Hb A2: beta thalassaemia intermedia II.

Gurgey, A, Kayin, S, Kansu, E, Altay, C

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 968 KB

english, 1985

8

Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.

Grobler-Rabie, A F, Brebner, D K, Vandenplas, S, Wallis, G, Dalgleish, R, Kaufman, R E, Bester, A J, Mathew, C G, Boyd, C D

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 740 KB

english, 1985

9

Erroneous theories of sex determination.

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 1.13 MB

english, 1985

10

Hyperinsulinaemic hypoglycaemia in an infant with mosaic trisomy 13.

Smith, V S, Giacoia, G P

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 470 KB

english, 1985

11

Birth Defects: Clinical and Ethical Considerations

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 117 KB

english, 1985

12

Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta.

Sykes, B, Smith, R, Vipond, S, Paterson, C, Cheah, K, Solomon, E

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 534 KB

english, 1985

13

Interstitial deletion of the long arm of chromosome 11.

Klep-de Pater, J M, de France, H F, Bijlsma, J B

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 520 KB

english, 1985

14

An hypothesis regarding the origin of aneuploidy in man: indirect evidence from an experimental model.

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 1.40 MB

english, 1985

15

Linkage analysis of a DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X chromosome.

Brown, C S, Pearson, P L, Thomas, N S, Sarfarazi, M, Harper, P S, Shaw, D J

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 477 KB

english, 1985

16

A new brachydactyly syndrome with similarities to Julia Bell types B and E.

Pitt, P, Williams, I

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 734 KB

english, 1985

17

Seckel syndrome: an overdiagnosed syndrome.

Thompson, E, Pembrey, M

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 1.61 MB

english, 1985

18

Clinical and haematological evaluation of beta thalassaemia intermedia with increased Hb F and Hb A2 in heterozygotes: beta thalassaemia intermedia I.

Altay, C, Gurgey, A

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 797 KB

english, 1985

19

Clinical Atlas of Human Chromosomes

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 181 KB

english, 1985

20

Principles and Practice of Medical Genetics

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 361 KB

english, 1985

21

Complex cardiac malformation in a case of trisomy 9.

Williams, T, Zardawi, I, Quaife, R, Young, I D

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 547 KB

english, 1985

22

The Antibody Enigma

Journal:

Journal of Medical Genetics

Year:

1985

Language:

english

File:

PDF, 287 KB

english, 1985

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— Carlos María Domínguez

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