Results
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61.
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Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. [electronic resource] by
- Pereiro, Ines
- Hoskins, Bethan E
- Marshall, Jan D
- Collin, Gayle B
- Naggert, Jürgen K
- Piñeiro-Gallego, Teresa
- Oitmaa, Eneli
- Katsanis, Nicholas
- Valverde, Diana
- Beales, Philip L
Producer: 20110706
In:
European journal of human genetics : EJHG vol. 19
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62.
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63.
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64.
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Differences in the clinical spectrum of two adolescent male patients with Alström syndrome. [electronic resource] by
- Kuburović, Vladimir
- Marshall, Jan D
- Collin, Gayle B
- Nykamp, Keith
- Kuburović, Nina
- Milenković, Tatjana
- Rakić, Sanja
- Djuric, Milena
- Ječmenica, Jovana
- Milenković, Svetislav
- Naggert, Jürgen K
Producer: 20130517
In:
Clinical dysmorphology vol. 22
Availability: No items available.
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65.
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Degeneration and plasticity of the optic pathway in Alström syndrome. [electronic resource] by
- Manara, R
- Citton, V
- Maffei, P
- Marshall, J D
- Naggert, J K
- Milan, G
- Vettor, R
- Baglione, A
- Vitale, A
- Briani, C
- Di Salle, F
- Favaro, A
Producer: 20160114
In:
AJNR. American journal of neuroradiology vol. 36
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66.
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67.
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68.
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Defining renal phenotype in Alström syndrome. [electronic resource] by
- Baig, Shanat
- Paisey, Richard
- Dawson, Charlotte
- Barrett, Timothy
- Maffei, Pietro
- Hodson, James
- Rambhatla, Srinivasa Bhargav
- Chauhan, Priyesh
- Bolton, Shaun
- Dassie, Francesca
- Francomano, Clair
- Marshall, Robert P
- Belal, Mohammed
- Skordilis, Kassiani
- Hayer, Manvir
- Price, Anna M
- Cramb, Robert
- Edwards, Nicola
- Steeds, Richard P
- Geberhiwot, Tarekegn
Producer: 20201123
In:
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association vol. 35
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69.
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70.
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71.
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72.
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73.
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Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome. [electronic resource] by
- Chakroun, Amine
- Ben Said, Mariem
- Ennouri, Amine
- Achour, Imen
- Mnif, Mouna
- Abid, Mohamed
- Ghorbel, Abdelmonem
- Marshall, Jan D
- Naggert, Jürgen K
- Masmoudi, Saber
Producer: 20170202
In:
European journal of medical genetics vol. 59
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74.
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75.
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76.
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77.
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78.
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79.
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The progression from obesity to type 2 diabetes in Alström syndrome. [electronic resource] by
- Bettini, Vera
- Maffei, Pietro
- Pagano, Claudio
- Romano, Sara
- Milan, Gabriella
- Favaretto, Francesca
- Marshall, Jan D
- Paisey, Richard
- Scolari, Francesco
- Greggio, Nella A
- Tosetto, Ilaria
- Naggert, Jürgen K
- Sicolo, Nicola
- Vettor, Roberto
Producer: 20120601
In:
Pediatric diabetes vol. 13
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80.
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EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome. [electronic resource] by
- Farmer, Amy
- Aymé, Ségolène
- de Heredia, Miguel Lopez
- Maffei, Pietro
- McCafferty, Susan
- Młynarski, Wojciech
- Nunes, Virginia
- Parkinson, Kay
- Paquis-Flucklinger, Véronique
- Rohayem, Julia
- Sinnott, Richard
- Tillmann, Vallo
- Tranebjaerg, Lisbeth
- Barrett, Timothy G
Producer: 20140731
In:
BMC pediatrics vol. 13
Availability: No items available.
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