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Authors :
Valente EM; 1] IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Rome, Italy [2] Department of Medicine and Surgery, University of Salerno, Salerno, Italy.; Brancati F
Subjects: Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*genetics ; Eye Abnormalities/Eye Abnormalities/Eye Abnormalities/*genetics ; Kidney Diseases, Cystic/Kidney Diseases, Cystic/Kidney Diseases, Cystic/*genetics Agenesis of Cerebellar Vermis
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Source:
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Oct; Vol. 21 (10). Date of Electronic Publication: 2013 Feb 13.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Subjects: Gene Frequency* ; Mutation* ; Phenotype*Agenesis of Cerebellar Vermis; Meckel syndrome type 1
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Source:
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Oct; Vol. 21 (10), pp. 1074-8. Date of Electronic Publication: 2013 Feb 06.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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Authors :
Chafai-Elalaoui S; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Maroc.; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Maroc.
Subjects: Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/*genetics ; Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*genetics ; Cerebellum/Cerebellum/Cerebellum/*abnormalities Agenesis of Cerebellar Vermis
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Source:
Journal of medical case reports [J Med Case Rep] 2015 Nov 05; Vol. 9, pp. 254. Date of Electronic Publication: 2015 Nov 05.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947
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Authors :
Sturm V; Department of Ophthalmology, University Hospital of Zurich, Zurich, Switzerland. ; Leiba H
Subjects: Retina/Retina/Retina/*pathology; Abnormalities, Multiple ; Adolescent Agenesis of Cerebellar Vermis
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Source:
Eye (London, England) [Eye (Lond)] 2010 Feb; Vol. 24 (2), pp. 222-5. Date of Electronic Publication: 2009 May 22.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print-Electronic Cited Medium: Internet ISSN:
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