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Volume 30; Issue 2
Main
Journal of Medical Genetics
Volume 30; Issue 2
Journal of Medical Genetics
Volume 30; Issue 2
1
Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.
Curtis, A
,
Richardson, R J
,
Boohene, J
,
Jackson, A
,
Nelson, R
,
Bhattacharya, S S
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 593 KB
Your tags:
english, 1993
2
Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene.
Richards, F M
,
Maher, E R
,
Latif, F
,
Phipps, M E
,
Tory, K
,
Lush, M
,
Crossey, P A
,
Oostra, B
,
Enblad, P
,
Gustavson, K H
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 850 KB
Your tags:
english, 1993
3
Medical genetics: advances in brief: Effects of long-term calcitonin therapy by injection and nasal spray on the incidence of fractures in osteogenesis imperfecta
Fitzpatrick, D.
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 296 KB
Your tags:
english, 1993
4
Hydrocephalus in Hajdu-Cheney syndrome.
Ades, L C
,
Morris, L L
,
Haan, E A
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 491 KB
Your tags:
english, 1993
5
Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future.
Baranov, V S
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 1.12 MB
Your tags:
english, 1993
6
The genetics of malignant hyperthermia.
Ball, S P
,
Johnson, K J
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 921 KB
Your tags:
english, 1993
7
Medical genetics: advances in brief: The psychological consequences of predictive testing for Huntington's disease
Norman, A.
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 296 KB
Your tags:
english, 1993
8
Microcitemie e Anemia Mediterranea
Cao, A
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 306 KB
Your tags:
english, 1993
9
The fragile X syndrome: no evidence for any recent mutations.
Smits, A P
,
Dreesen, J C
,
Post, J G
,
Smeets, D F
,
de Die-Smulders, C
,
Spaans-van der Bijl, T
,
Govaerts, L C
,
Warren, S T
,
Oostra, B A
,
van Oost, B A
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 705 KB
Your tags:
english, 1993
10
Medical genetics: advances in brief
Barber, J. C K
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 296 KB
Your tags:
english, 1993
11
A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.
Benson, M D
,
Turpin, J C
,
Lucotte, G
,
Zeldenrust, S
,
LeChevalier, B
,
Benson, M D
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 838 KB
Your tags:
english, 1993
12
Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain?
Zatz, M
,
Vallada, H
,
Melo, M S
,
Passos-Bueno, M R
,
Vieira, A H
,
Vainzof, M
,
Gill, M
,
Gentil, V
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 773 KB
Your tags:
english, 1993
13
Chromosome 20 long arm deletion in an elderly malformed man.
Shabtai, F
,
Ben-Sasson, E
,
Arieli, S
,
Grinblat, J
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 659 KB
Your tags:
english, 1993
14
A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?
Young, I D
,
Zuccollo, J M
,
Broderick, N J
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 873 KB
Your tags:
english, 1993
15
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.
Flynn, G A
,
Hirst, M C
,
Knight, S J
,
Macpherson, J N
,
Barber, J C
,
Flannery, A V
,
Davies, K E
,
Buckle, V J
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 1.01 MB
Your tags:
english, 1993
16
Late Onset Neurometabolic Genetic Disorders
Gardiner, R M
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 306 KB
Your tags:
english, 1993
17
Mutation analysis in Turkish phenylketonuria patients.
Ozguc, M
,
Ozalp, I
,
Coskun, T
,
Yilmaz, E
,
Erdem, H
,
Ayter, S
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 428 KB
Your tags:
english, 1993
18
Rapid and efficient PCR/StyI test for identification of common mutation R408W in phenylketonuria patients.
Ivaschenko, T
,
Baranov, V S
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 259 KB
Your tags:
english, 1993
19
Imprinting in Albright's hereditary osteodystrophy.
Davies, S J
,
Hughes, H E
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 551 KB
Your tags:
english, 1993
20
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
Harmon, D L
,
Gardner-Medwin, D
,
Stirling, J L
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 1.22 MB
Your tags:
english, 1993
21
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.
Yates, J R
,
Warner, J P
,
Smith, J A
,
Deymeer, F
,
Azulay, J P
,
Hausmanowa-Petrusewicz, I
,
Zaremba, J
,
Borkowska, J
,
Affara, N A
,
Ferguson-Smith, M A
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 726 KB
Your tags:
english, 1993
22
Medical genetics: advances in brief: Genetic susceptibility to multiple sclerosis linked to myelin basic protein
Reardon, W
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 296 KB
Your tags:
english, 1993
23
Medical genetics: advances in brief: A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening
Goodship, J.
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 296 KB
Your tags:
english, 1993
24
Brachymorphism-onychodysplasia-dysphalangism syndrome.
Verloes, A
,
Bonneau, D
,
Guidi, O
,
Berthier, M
,
Oriot, D
,
Van Maldergem, L
,
Koulischer, L
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 1.43 MB
Your tags:
english, 1993
25
Complex chromosome rearrangement with ankyloblepharon filiforme adnatum.
Kousseff, B G
,
Papenhausen, P
,
Essig, Y P
,
Torres, M P
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 883 KB
Your tags:
english, 1993
26
A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.
Benson, M D
,
Julien, J
,
Liepnieks, J
,
Zeldenrust, S
,
Benson, M D
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 782 KB
Your tags:
english, 1993
27
A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.
Hernandez, D
,
McConville, C M
,
Stacey, M
,
Woods, C G
,
Brown, M M
,
Shutt, P
,
Rysiecki, G
,
Taylor, A M
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 1.06 MB
Your tags:
english, 1993
28
Rapid diagnosis of infantile spinal muscular atrophy by direct amplification of amniocyte and CVS DNA.
MacKenzie, A
,
Besner, A
,
Roy, N
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 237 KB
Your tags:
english, 1993
29
The specialty of clinical genetics: European Society of Human Genetics survey.
Harris, R
,
Rhind, J A
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 1.20 MB
Your tags:
english, 1993
30
On the genetics of mandibular prognathism: analysis of large European noble families.
Wolff, G
,
Wienker, T F
,
Sander, H
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 1.25 MB
Your tags:
english, 1993
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