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Volume 46; Issue 6
Main
Journal of Medical Genetics
Volume 46; Issue 6
Journal of Medical Genetics
Volume 46; Issue 6
1
Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control
Brooks, J
,
Ding, J
,
Simon-Sanchez, J
,
Paisan-Ruiz, C
,
Singleton, A B
,
Scholz, S W
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 1.73 MB
Your tags:
english, 2009
2
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation
Ghalamkarpour, A
,
Holnthoner, W
,
Saharinen, P
,
Boon, L M
,
Mulliken, J B
,
Alitalo, K
,
Vikkula, M
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 1.85 MB
Your tags:
english, 2009
3
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
Ben-Shachar, S
,
Lanpher, B
,
German, J R
,
Qasaymeh, M
,
Potocki, L
,
Nagamani, S C S.
,
Franco, L M
,
Malphrus, A
,
Bottenfield, G W
,
Spence, J E
,
Amato, S
,
Rousseau, J A
,
Moghaddam, B
,
Skinner, C
,
Skinner,
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 546 KB
Your tags:
english, 2009
4
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria
Espinos, C
,
Pineda, M
,
Martinez-Rubio, D
,
Lupo, V
,
Ormazabal, A
,
Vilaseca, M A
,
Spaapen, L J M
,
Palau, F
,
Artuch, R
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 813 KB
Your tags:
english, 2009
5
Genetics of microtia and associated syndromes
Alasti, F
,
Van Camp, G
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 295 KB
Your tags:
english, 2009
6
Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?
Madeo, A C
,
Manichaikul, A
,
Pryor, S P
,
Griffith, A J
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 136 KB
Your tags:
english, 2009
7
Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb
Schuurs-Hoeijmakers, J H M
,
Vermeer, S
,
van Bon, B W M
,
Pfundt, R
,
Marcelis, C
,
de Brouwer, A P M
,
de Leeuw, N
,
de Vries, B. B A
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 1.21 MB
Your tags:
english, 2009
8
A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents
Knijnenburg, J
,
Oberstein, S A J L.
,
Frei, K
,
Lucas, T
,
Gijsbers, A C J
,
Ruivenkamp, C A L
,
Tanke, H J
,
Szuhai, K
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 705 KB
Your tags:
english, 2009
9
Large scale replication analysis of loci associated with lipid concentrations in a Japanese population
Nakayama, K
,
Bayasgalan, T
,
Yamanaka, K
,
Kumada, M
,
Gotoh, T
,
Utsumi, N
,
Yanagisawa, Y
,
Okayama, M
,
Kajii, E
,
Ishibashi, S
,
Iwamoto, S
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 196 KB
Your tags:
english, 2009
10
Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome
Kratz, C P
,
Holter, S
,
Etzler, J
,
Lauten, M
,
Pollett, A
,
Niemeyer, C M
,
Gallinger, S
,
Wimmer, K
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 526 KB
Your tags:
english, 2009
11
Change in stage distribution observed with annual screening for ovarian cancer in BRCA carriers
Manchanda, R
,
Rosenthal, A
,
Burnell, M
,
Fraser, L
,
Mackay, J
,
Skates, S
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 167 KB
Your tags:
english, 2009
12
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
Lacbawan, F
,
Solomon, B D
,
Roessler, E
,
El-Jaick, K
,
Domene, S
,
Velez, J I
,
Zhou, N
,
Hadley, D
,
Balog, J Z
,
Long, R
,
Fryer, A
,
Smith, W
,
Omar, S
,
McLean, S D
,
Clarkson, K
,
Lichty, A
,
Clegg, N J
,
Delga
Journal:
Journal of Medical Genetics
Year:
2009
Language:
english
File:
PDF, 445 KB
Your tags:
english, 2009
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