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Volume 30; Issue 3
Main
Journal of Medical Genetics
Volume 30; Issue 3
Journal of Medical Genetics
Volume 30; Issue 3
1
Molecular Genetic Medicine
Wilkie, A.
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 281 KB
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 1993
6
Medical genetics: advances in brief
Reardon, W
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 288 KB
Your tags:
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
Your tags:
english, 1993
8
Medical genetics: advances in brief: Molecular basis of human hypertension: the role of angiotensinogen
Thakker, N S
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 288 KB
Your tags:
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
Your tags:
english, 1993
10
Genome Analysis: Genes and Phenotypes
Malcolm, S
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 480 KB
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 1993
14
Medical genetics: advances in brief
Wilkie, A.
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 288 KB
Your tags:
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
Goodship, J.
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 288 KB
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 1993
20
Aphasia, deafness, or mental retardation.
Gordon, A G
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 299 KB
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 1993
29
Medical genetics: advances in brief: Comparative genomic hybridization for molecular cytogenetic analysis of solid tumours
Barber, J. C K
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 288 KB
Your tags:
english, 1993
30
Reply
Wilson, G. N
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 299 KB
Your tags:
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
Your tags:
english, 1993
32
Community Genetics Services in Europe
Raeburn, J A
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 211 KB
Your tags:
english, 1993
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