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Volume 45; Issue 11
Main
Journal of Medical Genetics
Volume 45; Issue 11
Journal of Medical Genetics
Volume 45; Issue 11
1
The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of -thalassaemia
So, C-C
,
Song, Y-Q
,
Tsang, S T
,
Tang, L-F
,
Chan, A Y
,
Ma, E S
,
Chan, L-C
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 249 KB
Your tags:
english, 2008
2
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients
Zweier, C
,
Sticht, H
,
Bijlsma, E K
,
Clayton-Smith, J
,
Boonen, S E
,
Fryer, A
,
Greally, M T
,
Hoffmann, L
,
den Hollander, N S
,
Jongmans, M
,
Kant, S G
,
King, M D
,
Lynch, S A
,
McKee, S
,
Midro, A T
,
Park, S
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 1.58 MB
Your tags:
english, 2008
3
Clinical and molecular progress in hereditary paraganglioma
Baysal, B E
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 178 KB
Your tags:
english, 2008
4
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
Erdogan, F
,
Larsen, L A
,
Zhang, L
,
Tumer, Z
,
Tommerup, N
,
Chen, W
,
Jacobsen, J R
,
Schubert, M
,
Jurkatis, J
,
Tzschach, A
,
Ropers, H-H
,
Ullmann, R
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 724 KB
Your tags:
english, 2008
5
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
Koolen, D A
,
Sharp, A J
,
Hurst, J A
,
Firth, H V
,
Knight, S J L
,
Goldenberg, A
,
Saugier-Veber, P
,
Pfundt, R
,
Vissers, L E L M
,
Destree, A
,
Grisart, B
,
Rooms, L
,
Van der Aa, N
,
Field, M
,
Hackett, A
,
Bel
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 3.14 MB
Your tags:
english, 2008
6
Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm
Giusti, B
,
Saracini, C
,
Bolli, P
,
Magi, A
,
Sestini, I
,
Sticchi, E
,
Pratesi, G
,
Pulli, R
,
Pratesi, C
,
Abbate, R
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 578 KB
Your tags:
english, 2008
7
Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia
Fischer, S
,
Kohlhase, J
,
Bohm, D
,
Schweiger, B
,
Hoffmann, D
,
Heitmann, M
,
Horsthemke, B
,
Wieczorek, D
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 1.52 MB
Your tags:
english, 2008
8
Clinical and molecular aspects of RAS related disorders
Denayer, E
,
de Ravel, T.
,
Legius, E
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 665 KB
Your tags:
english, 2008
9
Correction
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 109 KB
Your tags:
english, 2008
10
Ring syndrome: still true?
Rossi, E
,
Messa, J
,
Zuffardi, O
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 379 KB
Your tags:
english, 2008
11
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15
Debray, F-G
,
Lambert, M
,
Lemieux, B
,
Soucy, J F
,
Drouin, R
,
Fenyves, D
,
Dube, J
,
Maranda, B
,
Laframboise, R
,
Mitchell, G A
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 272 KB
Your tags:
english, 2008
12
Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutaion carriers
James, P A
,
Harris, M
,
Lindeman, G J
,
Mitchell, G
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 163 KB
Your tags:
english, 2008
13
Polymorphisms in the C-type lectin genes cluster in chromosome 19 and predisposition to severe acute respiratory syndrome coronavirus (SARS-CoV) infection
Li, H
,
Tang, N L-S
,
Chan, P K-S
,
Wang, C-Y
,
Hui, D S-C
,
Luk, C
,
Kwok, R
,
Huang, W
,
Sung, J J-Y
,
Kong, Q-P
,
Zhang, Y-P
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 432 KB
Your tags:
english, 2008
14
Intergenerational CAG repeat instability is highly heritable in Huntington's disease
Aziz, N A
,
van Belzen, M J
,
Roos, R A C
Journal:
Journal of Medical Genetics
Year:
2008
Language:
english
File:
PDF, 86 KB
Your tags:
english, 2008
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