Volume 30; Issue 3

Journal of Medical Genetics

Volume 30; Issue 3

1

Molecular Genetic Medicine

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 281 KB

english, 1993

2

A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

Elliott, J, Maltby, E L, Reynolds, B

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 342 KB

english, 1993

3

A study of DNA methylation in myotonic dystrophy.

Shaw, D J, Chaudhary, S, Rundle, S A, Crow, S, Brook, J D, Harper, P S, Harley, H G

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 669 KB

english, 1993

4

X chromosome inactivation and the diagnosis of X linked disease in females.

Brown, R M, Brown, G K

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.64 MB

english, 1993

5

Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMD family.

Lenk, U, Demuth, S, Kraft, U, Hanke, R, Speer, A

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 999 KB

english, 1993

6

Medical genetics: advances in brief

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 288 KB

english, 1993

7

Workshop of the Commission of the European Communities on Ethics of Human Genome analysis: survey of the European discussion.

De Dinechin, O, Harris, R, Kettner, M, Koch, L, Zwierlein, E

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 778 KB

english, 1993

8

Medical genetics: advances in brief: Molecular basis of human hypertension: the role of angiotensinogen

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 288 KB

english, 1993

9

Interstitial deletion of chromosome 10q23: a new case and review.

Farrell, S A, Szymonowicz, W, Chow, G, Summers, A M

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 538 KB

english, 1993

10

Genome Analysis: Genes and Phenotypes

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 480 KB

english, 1993

11

Direct versus indirect molecular diagnosis of fragile X mental retardation in 40 German families at risk.

Knobloch, O, Pelz, F, Wick, U, Nelson, D L, Zoll, B

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.16 MB

english, 1993

12

Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.

Schroder, W, Petruschka, L, Wehnert, M, Zschiesche, M, Seidlitz, G, Hopwood, J J, Herrmann, F H

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 526 KB

english, 1993

13

Age at onset in Huntington's disease and methylation at D4S95.

Reik, W, Maher, E R, Morrison, P J, Harding, A E, Simpson, S A

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 764 KB

english, 1993

14

Medical genetics: advances in brief

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 288 KB

english, 1993

15

Medical genetics: advances in brief: Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 288 KB

english, 1993

16

Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.

Bonneau, D, Raymond, F, Kremer, C, Klossek, J M, Kaplan, J, Patte, F

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 403 KB

english, 1993

17

Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).

Bonthron, D T, Barlow, K M, Burt, A M, Barr, D G

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 431 KB

english, 1993

18

Mapping of the X linked form of hyper IgM syndrome (HIGM1)

Padayachee, M, Levinsky, R J, Kinnon, C, Finn, A, McKeown, C, Feighery, C, Notarangelo, L D, Hendriks, R W, Read, A P, Malcolm, S

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 746 KB

english, 1993

19

Genetic background of clinical homogeneity of phenylketonuria in Poland.

Jaruzelska, J, Matuszak, R, Lyonnet, S, Rey, F, Rey, J, Filipowicz, J, Borski, K, Munnich, A

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 528 KB

english, 1993

20

Aphasia, deafness, or mental retardation.

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 299 KB

english, 1993

21

A 5' splice site mutation in fucosidosis.

Williamson, M, Cragg, H, Grant, J, Kretz, K, O'Brien, J, Willems, P J, Young, E, Winchester, B

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 1.46 MB

english, 1993

22

Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.

Dianzani, I, Camaschella, C, Saglio, G, Ferrero, G B, Ramus, S, Ponzone, A, Cotton, R G

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 895 KB

english, 1993

23

Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

Nellist, M, Brook-Carter, P T, Connor, J M, Kwiatkowski, D J, Johnson, P, Sampson, J R

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 462 KB

english, 1993

24

Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

Jouet, M, Feldman, E, Yates, J, Donnai, D, Paterson, J, Siggers, D, Kenwrick, S

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 612 KB

english, 1993

25

Mutations of the androgen receptor gene identified in perineal hypospadias.

Batch, J A, Evans, B A, Hughes, I A, Patterson, M N

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 960 KB

english, 1993

26

Hereditary anaemias in Portugal: epidemiology, public health significance, and control.

Martins, M C, Olim, G, Melo, J, Magalhaes, H A, Rodrigues, M O

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 741 KB

english, 1993

27

Filipino beta zero thalassaemia: a high Hb A2 beta zero thalassaemia resulting from a large deletion of the 5' beta globin gene region.

Motum, P I, Kearney, A, Hamilton, T J, Trent, R J

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 942 KB

english, 1993

28

Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?

Soekarman, D, Fryns, J P

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 900 KB

english, 1993

29

Medical genetics: advances in brief: Comparative genomic hybridization for molecular cytogenetic analysis of solid tumours

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 288 KB

english, 1993

30

Reply

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 299 KB

english, 1993

31

Sex differences in the location of a spina bifida lesion.

Cuckle, H S, Wald, N J, Althouse, R

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 568 KB

english, 1993

32

Community Genetics Services in Europe

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 211 KB

english, 1993