Results
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5441.
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5442.
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Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p. [electronic resource] by
- Damji, K F
- Sohocki, M M
- Khan, R
- Gupta, S K
- Rahim, M
- Loyer, M
- Hussein, N
- Karim, N
- Ladak, S S
- Jamal, A
- Bulman, D
- Koenekoop, R K
Producer: 20020114
In:
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie vol. 36
Availability: No items available.
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5443.
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5444.
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5445.
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BRCA1 and BRCA2 mutations in central and southern Italian patients. [electronic resource] by
- Ottini, L
- D'Amico, C
- Noviello, C
- Lauro, S
- Lalle, M
- Fornarini, G
- Colantuoni, O A
- Pizzi, C
- Cortesi, E
- Carlini, S
- Guadagni, F
- Bianco, A R
- Frati, L
- Contegiacomo, A
- Mariani-Costantini, R
Producer: 20010719
In:
Breast cancer research : BCR vol. 2
Availability: No items available.
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5446.
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5447.
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5448.
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5449.
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5450.
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5451.
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Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis. [electronic resource] by
- Rives, Susana
- Pahl, Heike L
- Florensa, Lourdes
- Bellosillo, Beatriz
- Neusuess, Andrea
- Estella, Jesus
- Debatin, Klaus-Michael
- Kohne, Elisabeth
- Schwarz, Klaus
- Cario, Holger
Producer: 20070716
In:
Haematologica vol. 92
Availability: No items available.
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5452.
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SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. [electronic resource] by
- Hirano, R
- Takashima, H
- Umehara, F
- Arimura, H
- Michizono, K
- Okamoto, Y
- Nakagawa, M
- Boerkoel, C F
- Lupski, J R
- Osame, M
- Arimura, K
Producer: 20050301
In:
Neurology vol. 63
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5453.
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5454.
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Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family. [electronic resource] by
- Brouwers, Nathalie
- Nuytemans, Karen
- van der Zee, Julie
- Gijselinck, Ilse
- Engelborghs, Sebastiaan
- Theuns, Jessie
- Kumar-Singh, Samir
- Pickut, Barbara A
- Pals, Philippe
- Dermaut, Bart
- Bogaerts, Veerle
- De Pooter, Tim
- Serneels, Sally
- Van den Broeck, Marleen
- Cuijt, Ivy
- Mattheijssens, Maria
- Peeters, Karin
- Sciot, Raf
- Martin, Jean-Jacques
- Cras, Patrick
- Santens, Patrick
- Vandenberghe, Rik
- De Deyn, Peter P
- Cruts, Marc
- Van Broeckhoven, Christine
- Sleegers, Kristel
Producer: 20071120
In:
Archives of neurology vol. 64
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5455.
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5456.
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Clinical and molecular characterization of a re-established line of sheep exhibiting hemophilia A. [electronic resource] by
- Porada, C D
- Sanada, C
- Long, C R
- Wood, J A
- Desai, J
- Frederick, N
- Millsap, L
- Bormann, C
- Menges, S L
- Hanna, C
- Flores-Foxworth, G
- Shin, T
- Westhusin, M E
- Liu, W
- Glimp, H
- Zanjani, E D
- Lozier, J N
- Pliska, V
- Stranzinger, G
- Joerg, H
- Kraemer, D C
- Almeida-Porada, G
Producer: 20100520
In:
Journal of thrombosis and haemostasis : JTH vol. 8
Availability: No items available.
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5457.
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montalcino, A zebrafish model for variegate porphyria. [electronic resource] by
- Dooley, Kimberly A
- Fraenkel, Paula G
- Langer, Nathaniel B
- Schmid, Bettina
- Davidson, Alan J
- Weber, Gerhard
- Chiang, Ken
- Foott, Helen
- Dwyer, Caitlin
- Wingert, Rebecca A
- Zhou, Yi
- Paw, Barry H
- Zon, Leonard I
Producer: 20081023
In:
Experimental hematology vol. 36
Availability: No items available.
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5458.
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5459.
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5460.
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