Diana Valverde - Universidad del Azuay (UDA)

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论文共 194 篇作者统计合作学者相似作者

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Mutations in CPLANE2 Are Responsible of a New Form of Orofaciodigital Syndrome

Irene Valenzuela Palafoll,Diana Valverde Perez, Ange-Line Bruel, Elisabeth Steichen, Marta Codina, Nuria Martinez-Gil, Ivon Cusco, Christel Thauvin-Robinet, Eduardo Tizzano

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 541-542

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Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

Hélène Dollfus, Marc R Lilien, Pietro Maffei,Alain Verloes,Jean Muller, Giacomo M Bacci, Metin Cetiner, Erica L T van den Akker, Monika Grudzinska Pechhacker, Francesco Testa,Didier Lacombe, Marijn F Stokman,Francesca Simonelli,Aurélie Gouronc, Amélie Gavard, Mieke M van Haelst, Jens Koenig, Sylvie Rossignol,Carsten Bergmann, Miriam Zacchia, Bart P Leroy, Héléna Mosbah, Albertien M Van Eerde, Djalila Mekahli, Aude Servais, Christine Poitou,Diana Valverde

European journal of human genetics : EJHGpp.1-14, (2024)

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Genotype–phenotype Associations in Alström Syndrome: a Systematic Review and Meta-Analysis

Brais Bea-Mascato,Diana Valverde

JOURNAL OF MEDICAL GENETICSno. 1 (2024): 18-26

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Depletion of BBSome Subunits Alters Receptor Endocytosis and Promotes EMT Via TGF-β Signaling