Volume 27; Issue 9

Journal of Medical Genetics

Volume 27; Issue 9

1

Chromosome imbalance, normal phenotype, and imprinting.

Bortotto, L, Piovan, E, Furlan, R, Rivera, H, Zuffardi, O

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 937 KB

english, 1990

2

Genes IV

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 204 KB

english, 1990

3

Deletion Xp22.3.

Temple, I K, Dennis, N R

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 195 KB

english, 1990

4

The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues.

Cole, W G, Campbell, P E, Rogers, J G, Bateman, J F

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 2.02 MB

english, 1990

5

Medical genetics in Romania.

Covic, M, Benga, G, Bembea, M, Maximilian, C, Stefanescu, D

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 195 KB

english, 1990

6

Sotos syndrome.

Cole, T R, Hughes, H E

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 1.15 MB

english, 1990

7

Molecular Biology of the Islets of Langerhans

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 295 KB

english, 1990

8

Genetic analysis of treated and untreated phenylketonuria in one family.

Tyfield, L A, Meredith, A L, Osborn, M J, Primavesi, R, Chambers, T L, Holton, J B, Harper, P S

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 745 KB

english, 1990

9

Genes and epilepsy.

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 1.29 MB

english, 1990

10

Dominantly inherited cleft lip and palate.

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 93 KB

english, 1990

11

Symposium on genomic imprinting, Manchester

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 375 KB

english, 1990

12

Families with X linked liver glycogenosis owing to phosphorylase kinase deficiency

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 195 KB

english, 1990

13

Genetic and environmental factors in hypospadias.

Stoll, C, Alembik, Y, Roth, M P, Dott, B

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 735 KB

english, 1990

14

Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.

Harvey, M P, Kearney, A, Smith, A, Trent, R J

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 729 KB

english, 1990

15

Adult polycystic kidney disease: knowledge, experience, and attitudes to prenatal diagnosis.

Hodgkinson, K A, Kerzin-Storrar, L, Watters, E A, Harris, R

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 1.08 MB

english, 1990

16

Genetic Risks. A Reference for Eye Care Practitioners

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 204 KB

english, 1990

17

Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

Romain, D R, Goldsmith, J, Cairney, H, Columbano-Green, L M, Smythe, R H, Parfitt, R G

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 351 KB

english, 1990

18

Another case of microcephaly, facial clefting, and preaxial polydactyly.

Marles, S L, Chudley, A E

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 239 KB

english, 1990

19

Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.

Charles, S J, Moore, A T, Yates, J R, Green, T, Clark, P

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 458 KB

english, 1990

20

Repeated freezing and thawing of peripheral blood and DNA in suspension: effects on DNA yield and integrity.

Ross, K S, Haites, N E, Kelly, K F

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 411 KB

english, 1990