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Volume 32; Issue 9
Main
Journal of Medical Genetics
Volume 32; Issue 9
Journal of Medical Genetics
Volume 32; Issue 9
1
Twenty-four cases of the EEC syndrome: clinical presentation and management.
Buss, P W
,
Hughes, H E
,
Clarke, A
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 1.95 MB
Your tags:
english, 1995
2
Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.
Oosterwijk, J C
,
van der Wielen, M J
,
van de Vosse, E
,
Voorhoeve, E
,
Bakker, E
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 660 KB
Your tags:
english, 1995
3
Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm.
Salo, P
,
Ignatius, J
,
Simola, K O
,
Tahvanainen, E
,
Kaariainen, H
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 1.51 MB
Your tags:
english, 1995
4
Prenatal diagnosis of X linked lymphoproliferative disease using multiplex polymerase chain reaction.
Schuster, V
,
Seidenspinner, S
,
Kreth, H W
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 533 KB
Your tags:
english, 1995
5
A variant of Wiskott-Aldrich syndrome with nephropathy is linked to DXS255.
Bennett, C P
,
Barnicoat, A J
,
Cotter, F
,
Wang, Q
,
Mathew, C G
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 430 KB
Your tags:
english, 1995
6
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.
Chabas, A
,
Cormand, B
,
Grinberg, D
,
Burguera, J M
,
Balcells, S
,
Merino, J L
,
Mate, I
,
Sobrino, J A
,
Gonzalez-Duarte, R
,
Vilageliu, L
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 720 KB
Your tags:
english, 1995
7
Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.
Lopez de Munain, A
,
Cobo, A M
,
Poza, J J
,
Navarrete, D
,
Martorell, L
,
Palau, F
,
Emparanza, J I
,
Baiget, M
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 524 KB
Your tags:
english, 1995
8
Cell Biology: a Laboratory Handbook
Harris, A.
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 326 KB
Your tags:
english, 1995
9
Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.
Dunnill, M G
,
Rodeck, C H
,
Richards, A J
,
Atherton, D
,
Lake, B D
,
Petrou, M
,
Eady, R A
,
Pope, F M
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 407 KB
Your tags:
english, 1995
10
Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy.
Poulton, J
,
Harley, H G
,
Dasmahapatra, J
,
Brown, G K
,
Potter, C G
,
Sykes, B
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 792 KB
Your tags:
english, 1995
11
Research in canine and human genetic disease.
Sargan, D R
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 841 KB
Your tags:
english, 1995
12
Medical genetics: advances in brief: KAI1, a metastasis suppressor gene for prostate cancer on human chromosome 11p11.2
Barber, J. C K
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 214 KB
Your tags:
english, 1995
13
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.
Goodship, J
,
Cross, I
,
Scambler, P
,
Burn, J
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 607 KB
Your tags:
english, 1995
14
The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.
Tuchman, M
,
Morizono, H
,
Reish, O
,
Yuan, X
,
Allewell, N M
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 2.25 MB
Your tags:
english, 1995
15
Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.
Upadhyaya, M
,
Maynard, J
,
Osborn, M
,
Huson, S M
,
Ponder, M
,
Ponder, B A
,
Harper, P S
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 1.73 MB
Your tags:
english, 1995
16
Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.
Bunyan, D J
,
Shea-Simonds, J
,
Reck, A C
,
Finnis, D
,
Eccles, D M
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 658 KB
Your tags:
english, 1995
17
Medical genetics: advances in brief: The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling
Flinter, F.
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 214 KB
Your tags:
english, 1995
18
Direct marketing of cystic fibrosis carrier screening: commercial push or population need?
Cuckle, H
,
Lilford, R
,
Wilson, J
,
Sehmi, I
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 181 KB
Your tags:
english, 1995
19
Hereditary Hearing Loss and its Syndromes
Reardon, W.
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 139 KB
Your tags:
english, 1995
20
Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.
Willing, M C
,
Slayton, R L
,
Pitts, S H
,
Deschenes, S P
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 735 KB
Your tags:
english, 1995
21
Fetal valproate syndrome.
Clayton-Smith, J
,
Donnai, D
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 1.48 MB
Your tags:
english, 1995
22
Medical genetics: advances in brief: Rapid antibody test for fragile X syndrome
Barnicoat, A.
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 214 KB
Your tags:
english, 1995
23
Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease.
Masuda, N
,
Goto, J
,
Murayama, N
,
Watanabe, M
,
Kondo, I
,
Kanazawa, I
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 953 KB
Your tags:
english, 1995
24
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.
Wallgren-Pettersson, C
,
Clarke, A
,
Samson, F
,
Fardeau, M
,
Dubowitz, V
,
Moser, H
,
Grimm, T
,
Barohn, R J
,
Barth, P G
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 2.09 MB
Your tags:
english, 1995
25
Vaginal rhabdomyosarcoma in a patient with Noonan syndrome.
Khan, S
,
McDowell, H
,
Upadhyaya, M
,
Fryer, A
Journal:
Journal of Medical Genetics
Year:
1995
Language:
english
File:
PDF, 778 KB
Your tags:
english, 1995
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