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1
Natural history of 39 patients with Achondroplasia
Natural history of 39 patients with Achondroplasia
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Natural history of 39 patients with Achondroplasia

Jose Ricardo Magliocco Ceroni Chong Ae Kim; Diogo Cordeiro de Queiroz Soares; Larissa de Cassia Testai; Rachel Sayuri Honjo Kawahira; Guilherme Lopes Yamamoto; Sofia Mizuho Miura Sugayama; Luiz Antonio Nunes de Oliveira; Debora Romeo Bertola

Clinics v. 73, article ID UNSP e324, 5p, 2018

Sao Paulo 2018

Localização: FM - Fac. Medicina    (OPI 28205 2018 )(Acessar)

2
Large deletion in PIGL a common mutational mechanism in CHIME syndrome?
Large deletion in PIGL a common mutational mechanism in CHIME syndrome?
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Large deletion in PIGL a common mutational mechanism in CHIME syndrome?

Jose R. M. Ceroni Chong A Kim; Guilherme L Yamamoto; Rachel S Honjo; Maria Rita Passos-Bueno; Debora R Bertola

Genetics and molecular biology v. 41, n. 1, p. 85-91, 2018

Ribeirao Pret 2018

Localização: FM - Fac. Medicina    (OPI/27016 2018 )(Acessar)

3
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome
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Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome

Júlia Hatagami Marques Guilherme Lopes Yamamoto; Larissa de Cássia Testai; Alexandre da Costa Pereira; Chong Ae Kim; Maria Rita Passos-Bueno; Débora Romeo Bertola

Molecular Syndromology Basel v. 6, n. 2, p. 87-90, Jul. 2015

Basel 2015

Item não circula. Consulte sua biblioteca.(Acessar)

4
Autosomal dominant frontometaphyseal dysplasia Delineation of the clinical phenotype
Autosomal dominant frontometaphyseal dysplasia Delineation of the clinical phenotype
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Autosomal dominant frontometaphyseal dysplasia Delineation of the clinical phenotype

Emma M. Wade Zandra A Jenkins; Philip B Daniel; Tim Morgan; Marie C Addor; Lesley C Adés; Debora Bertola; Axel Bohring; Erin Carter; Tae-Joon Cho; Christa M. de Geus; Hans-Christoph Duba; Elaine Fletcher; Kinga Hadzsiev; Raoul C. M Hennekam; Chong A Kim; Eva Deborah Krakow; Eva Morava; Teresa Neuhann; David Sillence; Andrea Superti-Furga; Hermine E Veenstra-Knol; Dagmar Wieczorek; Louise C Wilson; David M Markie; Stephen P Robertson

American Journal of Medical Genetics - Part A Hoboken v. 173A, n. 7, p. p. 1739–1746, July 2017

Hoboken 2017

Localização: FM - Fac. Medicina    (BCSEP 392 2017 )(Acessar)

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