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Volume 43; Issue 3
Main
Journal of Medical Genetics
Volume 43; Issue 3
Journal of Medical Genetics
Volume 43; Issue 3
1
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
Naeem, M
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 539 KB
Your tags:
english, 2005
2
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
Sanlaville, D
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 1.02 MB
Your tags:
english, 2005
3
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases
Depienne, C
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 161 KB
Your tags:
english, 2005
4
Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis
Steffann, J
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 191 KB
Your tags:
english, 2005
5
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
Basel-Vanagaite, L
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 2.52 MB
Your tags:
english, 2005
6
Genetic Disorders of the Indian Subcontinent
Yamada, Y
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 68 KB
Your tags:
english, 2005
7
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation
Gomez-Garre, P
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 620 KB
Your tags:
english, 2005
8
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene
Szabo, Z
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 1.28 MB
Your tags:
english, 2005
9
Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins
Johnson, D
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 438 KB
Your tags:
english, 2005
10
X linked mental retardation: a clinical guide
Raymond, F L
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 216 KB
Your tags:
english, 2005
11
CORRECTION
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 102 KB
Your tags:
english, 2005
12
Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14
Warner, J V
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 248 KB
Your tags:
english, 2005
13
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
Howald, C
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 907 KB
Your tags:
english, 2005
14
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3
Chan, W-M
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 896 KB
Your tags:
english, 2005
15
Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function
Cao, X
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 504 KB
Your tags:
english, 2005
16
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
Kjaer, K W
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 1.21 MB
Your tags:
english, 2005
17
Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability
Seemanova, E
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 1.07 MB
Your tags:
english, 2005
18
Congenital hyperinsulinism and mosaic abnormalities of the ploidy
Giurgea, I
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 820 KB
Your tags:
english, 2005
19
Highly significant linkage to chromosome 3q13.31 for rhinitis and related allergic diseases
Brasch-Andersen, C
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 229 KB
Your tags:
english, 2005
20
Age associated increase in the prevalence of chromosome 22q loss of heterozygosity in histological subsets of benign meningioma
Baser, M E
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 139 KB
Your tags:
english, 2005
21
Battle of the BRCA1/BRCA2 (offspring) sex ratios: truth or consequences
Agnese, D M
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 108 KB
Your tags:
english, 2005
22
Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
Crawford, J
Journal:
Journal of Medical Genetics
Year:
2005
Language:
english
File:
PDF, 542 KB
Your tags:
english, 2005
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