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Volume 46; Issue 7
Main
Journal of Medical Genetics
Volume 46; Issue 7
Journal of Medical Genetics
Volume 46; Issue 7
1
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome
Tan, T Y
,
Aftimos, S
,
Worgan, L
,
Susman, R
,
Wilson, M
,
Ghedia, S
,
Kirk, E P
,
Love, D
,
Ronan, A
,
Darmanian, A
,
Slavotinek, A
,
Hogue, J
,
Moeschler, J B
,
Ozmore, J
,
Widmer, R
,
Savarirayan, R
,
Peters, G
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 620 KB
Your tags:
english, 2009
2
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease
Lesage, S
,
Condroyer, C
,
Lannuzel, A
,
Lohmann, E
,
Troiano, A
,
Tison, F
,
Damier, P
,
Thobois, S
,
Ouvrard-Hernandez, A-M
,
Rivaud-Pechoux, S
,
Brefel-Courbon, C
,
Destee, A
,
Tranchant, C
,
Romana, M
,
Leclere
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 388 KB
Your tags:
english, 2009
3
The effect of the MHC locus on autoantibodies in type 1 diabetes
Qu, H-Q
,
Polychronakos, C
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 212 KB
Your tags:
english, 2009
4
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex
Muzykewicz, D A
,
Sharma, A
,
Muse, V
,
Numis, A L
,
Rajagopal, J
,
Thiele, E A
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 177 KB
Your tags:
english, 2009
5
New surfactant protein C gene mutations associated with diffuse lung disease
Guillot, L
,
Epaud, R
,
Thouvenin, G
,
Jonard, L
,
Mohsni, A
,
Couderc, R
,
Counil, F
,
de Blic, J
,
Taam, R A
,
Le Bourgeois, M
,
Reix, P
,
Flamein, F
,
Clement, A
,
Feldmann, D
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 369 KB
Your tags:
english, 2009
6
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype
Pasmant, E
,
Sabbagh, A
,
Hanna, N
,
Masliah-Planchon, J
,
Jolly, E
,
Goussard, P
,
Ballerini, P
,
Cartault, F
,
Barbarot, S
,
Landman-Parker, J
,
Soufir, N
,
Parfait, B
,
Vidaud, M
,
Wolkenstein, P
,
Vidaud, D
,
Fr
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 323 KB
Your tags:
english, 2009
7
Genome-wide linkage scan for plasma high density lipoprotein cholesterol, apolipoprotein A-1 and triglyceride variation among American Indian populations: the Strong Heart Family Study
Li, X
,
Monda, K L
,
Goring, H H H
,
Haack, K
,
Cole, S A
,
Diego, V P
,
Almasy, L
,
Laston, S
,
Howard, B V
,
Shara, N M
,
Lee, E T
,
Best, L G
,
Fabsitz, R R
,
MacCluer, J W
,
North, K. E
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 1.20 MB
Your tags:
english, 2009
8
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype
Spurlock, G
,
Bennett, E
,
Chuzhanova, N
,
Thomas, N
,
Jim, H-P.
,
Side, L
,
Davies, S
,
Haan, E
,
Kerr, B
,
Huson, S M
,
Upadhyaya, M
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 727 KB
Your tags:
english, 2009
9
Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2
Laissue, P
,
Lakhal, B
,
Benayoun, B A
,
Dipietromaria, A
,
Braham, R
,
Elghezal, H
,
Philibert, P
,
Saad, A
,
Sultan, C
,
Fellous, M
,
Veitia, R A
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 260 KB
Your tags:
english, 2009
10
The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome
Dragon-Durey, M-A
,
Blanc, C
,
Marliot, F
,
Loirat, C
,
Blouin, J
,
Sautes-Fridman, C
,
Fridman, W H
,
Fremeaux-Bacchi, V
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 173 KB
Your tags:
english, 2009
11
Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors
Futter, M
,
Diekmann, H
,
Schoenmakers, E
,
Sadiq, O
,
Chatterjee, K
,
Rubinsztein, D C
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 643 KB
Your tags:
english, 2009
12
New challenges for informed consent through whole genome array testing
Netzer, C
,
Klein, C
,
Kohlhase, J
,
Kubisch, C
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 102 KB
Your tags:
english, 2009
13
A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length
Mangino, M
,
Richards, J B
,
Soranzo, N
,
Zhai, G
,
Aviv, A
,
Valdes, A M
,
Samani, N J
,
Deloukas, P
,
Spector, T D
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 206 KB
Your tags:
english, 2009
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