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Volume 42; Issue 3
Main
Journal of Medical Genetics
Volume 42; Issue 3
Journal of Medical Genetics
Volume 42; Issue 3
1
Association of partial AZFc region deletions with spermatogenic impairment and male infertility
Ferlin, A
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 136 KB
Your tags:
english, 2005
2
The genetics of schizophrenia and bipolar disorder: dissecting psychosis
Craddock, N
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 189 KB
Your tags:
english, 2005
3
Complete allelic analysis of BRCA1 and BRCA2 variants in young Nigerian breast cancer patients
Fackenthal, J D
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 110 KB
Your tags:
english, 2005
4
Reappraisal of the historical selective pressures for the CCR5- 32 mutation
Duncan, S R
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 131 KB
Your tags:
english, 2005
5
MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
Kim, J-W
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 206 KB
Your tags:
english, 2005
6
Hereditary Hearing Loss and its Syndromes, 2nd edn
Young, I
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 48 KB
Your tags:
english, 2005
7
Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease
Pelet, A
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 70 KB
Your tags:
english, 2005
8
Association of oestrogen receptor gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone
Albagha, O M E
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 153 KB
Your tags:
english, 2005
9
CORRECTION
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 41 KB
Your tags:
english, 2005
10
Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes
Aubourg, P
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 293 KB
Your tags:
english, 2005
11
Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study
Qu, H
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 136 KB
Your tags:
english, 2005
12
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
Sandre-Giovannoli, A D.
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 170 KB
Your tags:
english, 2005
13
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
van Steensel, M A M
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 123 KB
Your tags:
english, 2005
14
Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency
Ferrarotti, I
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 226 KB
Your tags:
english, 2005
15
A survey of haplotype variants at several disease candidate genes: the importance of rare variants for complex diseases
Liu, P-Y
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 145 KB
Your tags:
english, 2005
16
CORRECTION
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 48 KB
Your tags:
english, 2005
17
CORRECTION
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 48 KB
Your tags:
english, 2005
18
Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs
Ng, M Y M
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 99 KB
Your tags:
english, 2005
19
Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)
Hoffmann, B
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 110 KB
Your tags:
english, 2005
20
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy
Cenni, V
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 256 KB
Your tags:
english, 2005
21
Vitamin D receptor gene polymorphisms are linked to and associated with adult height
Xiong, D-H
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 127 KB
Your tags:
english, 2005
22
Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations
Leegte, B
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 128 KB
Your tags:
english, 2005
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