Results
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13154.
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Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. [electronic resource] by
- Göransdotter Ericson, K
- Fadeel, B
- Nilsson-Ardnor, S
- Söderhäll, C
- Samuelsson, A
- Janka, G
- Schneider, M
- Gürgey, A
- Yalman, N
- Révész, T
- Egeler, R
- Jahnukainen, K
- Storm-Mathiesen, I
- Haraldsson , A
- Poole, J
- de Saint Basile, G
- Nordenskjöld, M
- Henter, J
Producer: 20010405
In:
American journal of human genetics vol. 68
Availability: No items available.
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13155.
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Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. [electronic resource] by
- Beales, P L
- Katsanis, N
- Lewis, R A
- Ansley, S J
- Elcioglu, N
- Raza, J
- Woods, M O
- Green, J S
- Parfrey, P S
- Davidson, W S
- Lupski, J R
Producer: 20010405
In:
American journal of human genetics vol. 68
Availability: No items available.
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13156.
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Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects. [electronic resource] by
- Periquet, M
- Lücking, C
- Vaughan, J
- Bonifati, V
- Dürr, A
- De Michele, G
- Horstink, M
- Farrer, M
- Illarioshkin, S N
- Pollak, P
- Borg, M
- Brefel-Courbon, C
- Denefle, P
- Meco, G
- Gasser, T
- Breteler, M M
- Wood, N
- Agid, Y
- Brice, A
Producer: 20010405
In:
American journal of human genetics vol. 68
Availability: No items available.
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13157.
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13158.
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13159.
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Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23. [electronic resource] by
- Gurling, H M
- Kalsi, G
- Brynjolfson, J
- Sigmundsson, T
- Sherrington, R
- Mankoo, B S
- Read, T
- Murphy, P
- Blaveri, E
- McQuillin, A
- Petursson, H
- Curtis, D
Producer: 20010405
In:
American journal of human genetics vol. 68
Availability: No items available.
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13160.
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A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. [electronic resource] by
- Eng, C M
- Banikazemi, M
- Gordon, R E
- Goldman, M
- Phelps, R
- Kim, L
- Gass, A
- Winston, J
- Dikman, S
- Fallon, J T
- Brodie, S
- Stacy, C B
- Mehta, D
- Parsons, R
- Norton, K
- O'Callaghan, M
- Desnick, R J
Producer: 20010405
In:
American journal of human genetics vol. 68
Availability: No items available.
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