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Refinado por: Base de dados/Biblioteca: EBSCO_MEDLINE Complete（医学期刊全文数据库） remover Nome da Publicação: Ophthalmic Genetics remover
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1
Xq26.3 Microdeletion in a Male with Wildervanck Syndrome
Xq26.3 Microdeletion in a Male with Wildervanck Syndrome
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Xq26.3 Microdeletion in a Male with Wildervanck Syndrome

Abu-Amero, Khaled K. ; Kondkar, Altaf A. ; Alorainy, Ibrahim A. ; Khan, Arif O. ; Al-Enazy, Leila A. ; Oystreck, Darren T. ; Bosley, Thomas M.

Ophthalmic genetics, 2014-03, Vol.35 (1), p.18-24 [Periódico revisado por pares]

England: Informa Healthcare USA, Inc

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2
A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene
A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene
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A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene

Dumitrescu, Alina V. ; Milunsky, Jeff M. ; Longmuir, Susannah Q. ; Drack, Arlene V.

Ophthalmic genetics, 2012-06, Vol.33 (2), p.100-106 [Periódico revisado por pares]

England: Informa Healthcare

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3
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype
A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype
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A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype

Aliferis, Konstantinos ; Stoetzel, Corinne ; Pelletier, Valérie ; Hellé, Sophie ; Angioï-Duprez, Karine ; Vigneron, Jacqueline ; Leheup, Bruno ; Marion, Vincent ; Dollfus, Hélène

Ophthalmic genetics, 2011-11, Vol.32 (4), p.250-255 [Periódico revisado por pares]

England: Informa Healthcare

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4
Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation
Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation
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Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation

Vaclavik, V. ; Schorderet, D. F. ; Borruat, F-X. ; Munier, F. L.

Ophthalmic genetics, 2011-06, Vol.32 (2), p.114-117 [Periódico revisado por pares]

England: Informa Healthcare

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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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