Results
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2201.
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2202.
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2203.
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2204.
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GALNS gene expression profiling in Morquio A patients' fibroblasts. [electronic resource] by
- Carraresi, L
- Parini, R
- Filoni, C
- Caciotti, A
- Sersale, G
- Tomatsu, S
- Orlando, C
- Zammarchi, E
- Guerrini, R
- Donati, M A
- Morrone, A
Producer: 20090417
In:
Clinica chimica acta; international journal of clinical chemistry vol. 397
Availability: No items available.
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2205.
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Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene. [electronic resource] by
- Chang, Bo
- Mandal, Md Nawajes A
- Chavali, Venkata R M
- Hawes, Norman L
- Khan, Naheed W
- Hurd, Ronald E
- Smith, Richard S
- Davisson, Muriel L
- Kopplin, Laura
- Klein, Barbara E K
- Klein, Ronald
- Iyengar, Sudha K
- Heckenlively, John R
- Ayyagari, Radha
Producer: 20090716
In:
Human molecular genetics vol. 17
Availability: No items available.
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2206.
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2207.
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2208.
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2209.
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2210.
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The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience. [electronic resource] by
- Censi, Federica
- Falbo, Vincenzo
- Floridia, Giovanna
- Salvatore, Marco
- Tosto, Fabrizio
- De Rosa, Marina
- Resta, Nicoletta
- Izzo, Paola
- Guanti, Ginevra
- Taruscio, Domenica
Producer: 20100729
In:
Genetic testing and molecular biomarkers vol. 14
Availability: No items available.
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2211.
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2212.
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2213.
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2214.
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2215.
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2216.
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2217.
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Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients. [electronic resource] by
- Santacroce, Rosa
- Leccese, Angelica
- Trunzo, Roberta
- Lassandro, Giuseppe
- Giordano, Paola
- Ettorre, Cosimo
- Antoncecchi, Stefano
- Cantori, Isabella
- Dragani, Alfredo
- Belvini, Donata
- Salviato, Roberta
- Margaglione, Maurizio
Producer: 20160422
In:
Thrombosis research vol. 135
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2218.
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2219.
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A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy? [electronic resource] by
- Gharibeh, Lara
- El-Rassy, Inaam
- Soubra, Ayman
- Safa, Raya
- Fahed, Akl
- Tanos, Rachel
- Arabi, Mariam
- Kambris, Zakaria
- Bitar, Fadi
- Nemer, Georges
Producer: 20160411
In:
Journal of genetics vol. 94
Availability: No items available.
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2220.
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Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. [electronic resource] by
- Seco, Celia Zazo
- Oonk, Anne M M
- Domínguez-Ruiz, María
- Draaisma, Jos M T
- Gandía, Marta
- Oostrik, Jaap
- Neveling, Kornelia
- Kunst, Henricus P M
- Hoefsloot, Lies H
- del Castillo, Ignacio
- Pennings, Ronald J E
- Kremer, Hannie
- Admiraal, Ronald J C
- Schraders, Margit
Producer: 20150929
In:
European journal of human genetics : EJHG vol. 23
Availability: No items available.
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