Volume 17; Issue 3

Journal of Medical Genetics

Volume 17; Issue 3

1

Correction

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 45 KB

english, 1980

2

Screening of thalassaemia carriers in intermediate school of Latium: results of four years' work.

Silvestroni, E, Bianco, I, Graziani, B, Carboni, C, Valente, M, Lerone, M, D'Arca, S U

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 527 KB

english, 1980

3

G6PD (Dublin): chronic non-spherocytic haemolytic anaemia resulting from glucose-6-phosphate dehydrogenase deficiency in an Irish kindred.

McCann, S R, Smithwick, A M, Temperley, I J, Tipton, K

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 380 KB

english, 1980

4

Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship.

Harper, P S, Marks, R, Dykes, P J, Young, I D

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 1.09 MB

english, 1980

5

A family study of spina bifida and anencephalus in Belfast, Northern Ireland (1964 to 1968).

Nevin, N C, Johnston, W P

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 1.05 MB

english, 1980

6

Familial pericentric inversion 19.

Jordan, D K, Taysi, K, Blackwell, N L

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 553 KB

english, 1980

7

Huntington's disease in two New Britain families.

Scrimgeour, E M

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 892 KB

english, 1980

8

Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.

Carpenter, N J, Say, B, Browning, D

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 755 KB

english, 1980

9

Antiproteases and Down's syndrome in an Australian population.

McPhee, H, Ananthakrishnan, R, Taft, L I

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 494 KB

english, 1980

10

The syndromes of Marshall and Weaver.

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 821 KB

english, 1980

11

Carrier detection in Duchenne muscular dystrophy.

Fitzsimmons, J S, McLachlan, J I, Reeves, W G, Marriott, D W, Woolfson, A M, Mayhew, J

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 582 KB

english, 1980

12

Haemoglobin Lepore Boston-Washington in Sicily: clinical, haematological, and biosynthetic studies.

Schiliro, G, Musumeci, S, Pizzarelli, G, Fischer, A, Romero, M A, Russo, G

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 570 KB

english, 1980

13

Occasional abstract: Growing embryos in vitro, with special reference to congenital abnormalities in the offspring of mothers with diabetes mellitus

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 109 KB

english, 1980

14

Tetrasomy 9p: confirmation by enzyme analysis.

Moedjono, S J, Crandall, B F, Sparkes, R S

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 1.14 MB

english, 1980

15

Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation.

Jones, L A, Dengler, D R, Taysi, K, Shackelford, G D, Hartmann, A F

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 727 KB

english, 1980

16

A digitopalatal syndrome with associated anomalies of the heart, face, and skeleton.

Stevenson, R E, Taylor, H A, Burton, O M, Hearn, H B

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 1.10 MB

english, 1980

17

Waardenburg's syndrome.

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 151 KB

english, 1980

18

Alkaline phosphatase activity of normal and cystic fibrosis fibroblasts.

Aitken, D A, Hoogeveen, A

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 605 KB

english, 1980

19

A severely retarded 18-year-old boy with tertiary partial trisomy 14.

Smith, A, den Dulk, G, Elliott, G

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 670 KB

english, 1980

20

Haemoglobin K Woolwich: a study of the family of a homozygote.

Cabannes, R, Amegnizin, P, Sangare, A, Arne, D, Casey, R, Lehmann, H

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 522 KB

english, 1980

21

Aarskog's syndrome with Hirschsprung's disease, midgut malrotation, and dental anomalies.

Hassinger, D D, Mulvihill, J J, Chandler, J B

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 845 KB

english, 1980

22

Dermatoglyphs in duplication of the thumb.

Shiono, H, Ogino, T

Journal:

Journal of Medical Genetics

Year:

1980

Language:

english

File:

PDF, 297 KB

english, 1980

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