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Publications by J Gonçalves

828 a Novel De Novo Mutation of Chromosome 7 [46, XX, DEL(7)(P14.2 P15.1)] in a Child With Feeding Problems

Pediatric Research

English

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A Novel De Novo Dominant Mutation inISCUassociated With Mitochondrial Myopathy

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A Novel De Novo Mutation in CEACAM16 Associated With Postlingual Hearing Impairment

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A De Novo Complex Chromosomal Rearrangement of 46,XX,t(7;15;13)(p15;q21;q31) in a Female With an Adverse Obstetric History

International Journal of Human Genetics

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A Patient With 45,XX,Gminus-46,XX,Gr Mosaicism.

Journal of Medical Genetics

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Trisomy 7 Mosaicism, Maternal Uniparental Heterodisomy 7 and Hirschsprung's Disease in a Child With Silver–Russell Syndrome

European Journal of Human Genetics

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A Novel De Novo COL1A1 Mutation in a Thai Boy With Osteogenesis Imperfecta Born to Consanguineous Parents

Genetics and Molecular Biology

Molecular Biology

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A Novel ATPase on Mouse Chromosome 7 Is a Candidate Gene for Increased Body Fat

Physiological Genomics

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A Terminal Deletion of the Long Arm of Chromosome 4 [46,XX,del(4)(q33)] in an Infant With Phenotypic Features of Williams Syndrome.

Journal of Medical Genetics

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A Collection of 1814 Human Chromosome 7-Specific STSs.

Genome Research

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