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Volume 41; Issue 4
Main
Journal of Medical Genetics
Volume 41; Issue 4
Journal of Medical Genetics
Volume 41; Issue 4
1
Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal
Pop, R
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 606 KB
Your tags:
english, 2004
2
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III
Raas-Rothschild, A
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 502 KB
Your tags:
english, 2004
3
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
Shaw-Smith, C
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 800 KB
Your tags:
english, 2004
4
A frequent keratin 8 p.L227L polymorphism, but no point mutations in keratin 8 and 18 genes, in patients with various liver disorders
Hesse, M
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 189 KB
Your tags:
english, 2004
5
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6)
Mohiddin, S A
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 537 KB
Your tags:
english, 2004
6
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients
Walter, M C
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 358 KB
Your tags:
english, 2004
7
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain
Mattocks, C
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 339 KB
Your tags:
english, 2004
8
Absence of BRAF mutations in UV-protected mucosal melanomas
Edwards, R H
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 240 KB
Your tags:
english, 2004
9
Genomic imbalances in mental retardation
Kriek, M
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 521 KB
Your tags:
english, 2004
10
DBH gene variants that cause low plasma dopamine � hydroxylase with or without a severe orthostatic syndrome
Deinum, J
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 336 KB
Your tags:
english, 2004
11
Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients
Rauch, A
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 398 KB
Your tags:
english, 2004
12
Homozygosity mapping of a third Joubert syndrome locus to 6q23
Lagier-Tourenne, C
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 449 KB
Your tags:
english, 2004
13
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees
Man, P Y W
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 325 KB
Your tags:
english, 2004
14
Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype
Giacchetti, M
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 190 KB
Your tags:
english, 2004
15
Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population
Relton, C L
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 268 KB
Your tags:
english, 2004
16
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14
Steiner, C
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 424 KB
Your tags:
english, 2004
17
Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes
Bergholdt, R
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 293 KB
Your tags:
english, 2004
18
Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay
Zhou, Y
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 667 KB
Your tags:
english, 2004
19
A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13
Nishimura, A L
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 420 KB
Your tags:
english, 2004
20
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome
Tassone, F
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 275 KB
Your tags:
english, 2004
21
Functional analysis of novel SLC11A1 (NRAMP1) promoter variants in susceptibility to HIV-1
Donninger, H
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 173 KB
Your tags:
english, 2004
22
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes
Csoka, A B
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 545 KB
Your tags:
english, 2004
23
Primary open angle glaucoma is associated with a specific p53 gene haplotype
Ressiniotis, T
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 173 KB
Your tags:
english, 2004
24
Comparison of motivations and concerns for genetic testing in hereditary colorectal and breast cancer syndromes
Balmana, J
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 246 KB
Your tags:
english, 2004
25
Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease
Robson, K J H
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 260 KB
Your tags:
english, 2004
26
No association between a previously reported OLR1 3' UTR polymorphism and Alzheimer's disease in a large family sample
Bertram, L
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 293 KB
Your tags:
english, 2004
27
Isolated congenital anosmia locus maps to 18p11.23-q12.2
Ghadami, M
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 563 KB
Your tags:
english, 2004
28
Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy
Ohmori, H
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 167 KB
Your tags:
english, 2004
29
Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations
Marroni, F
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 350 KB
Your tags:
english, 2004
30
Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism
Masuzaki, H
Journal:
Journal of Medical Genetics
Year:
2004
Language:
english
File:
PDF, 329 KB
Your tags:
english, 2004
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