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Volume 39; Issue 11
Main
Journal of Medical Genetics
Volume 39; Issue 11
Journal of Medical Genetics
Volume 39; Issue 11
1
High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH)
Hollox, E J
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 252 KB
Your tags:
english, 2002
2
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
Ju, W
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 150 KB
Your tags:
english, 2002
3
Screening for microsatellite instability target genes in colorectal cancers
Vilkki, S
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 215 KB
Your tags:
english, 2002
4
CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia
Slimane, M N
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 262 KB
Your tags:
english, 2002
5
Continuous medical education approaches for clinical genetics: a postal survey of general practitioners
Qureshi, N
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 143 KB
Your tags:
english, 2002
6
No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD)
Talebizadeh, Z
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 181 KB
Your tags:
english, 2002
7
Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients
Reboul, M P
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 139 KB
Your tags:
english, 2002
8
Family history of breast cancer as a determinant of the risk of developing endometrial cancer: a nationwide cohort study
Kazerouni, N
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 192 KB
Your tags:
english, 2002
9
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib
Vuillaumier-Barrot, S
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 183 KB
Your tags:
english, 2002
10
Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis
Singh, S M
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 123 KB
Your tags:
english, 2002
11
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models
Elson, E
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 137 KB
Your tags:
english, 2002
12
Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families
Gad, S
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 321 KB
Your tags:
english, 2002
13
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss
Stover, E H
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 532 KB
Your tags:
english, 2002
14
Promoter polymorphisms in the CD14 receptor gene and their potential association with the severity of chronic periodontitis
Holla, L I
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 274 KB
Your tags:
english, 2002
15
Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD
Watanabe, Y
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 217 KB
Your tags:
english, 2002
16
Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation
Wagner, A
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 235 KB
Your tags:
english, 2002
17
Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome
Lagier-Tourenne, C
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 266 KB
Your tags:
english, 2002
18
Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13
Debeer, P
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 213 KB
Your tags:
english, 2002
19
Behavioural complaints in participants who underwent predictive testing for Huntington's disease
Witjes-Ane, M-N W
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 228 KB
Your tags:
english, 2002
20
Your Genetic Destiny: Know Your Genes, Secure your Health, Save Your Life: Aubrey Milunsky. Oxford: Perseus Publishing. 2001. ISDN 0738203777.
Graff, J. W.
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 120 KB
Your tags:
english, 2002
21
Mosaicism for duplication 12q (12q13->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant
Vermeesch, J R
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 173 KB
Your tags:
english, 2002
22
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene
Horvath, R
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 237 KB
Your tags:
english, 2002
23
Hereditary ovarian cancer resulting from a non-ovarian cancer cluster region (OCCR) BRCA2 mutation: is the OCCR useful clinically?
Al-Saffar, M
Journal:
Journal of Medical Genetics
Year:
2002
Language:
english
File:
PDF, 134 KB
Your tags:
english, 2002
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