Publications

Publications with the same journal as the Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome publication

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Another Publication in an International Scientific Journal

Wiedemann-Steiner syndrome in two patients from Portugal

Grangeia, A (Author) (Other); Leao, M (Author) (Other); Carla Pinto Moura (Author) (FMUP)

2020

Indexing

Mucolipidosis type II a/ss with a homozygous missense mutation in the GNPTAB gene

Maria Francisca Coutinho (Author) (Other); Liliana da Silva Santos (Author) (Other); Katta Mohan Girisha (Author) (Other); Kapaettu Satyamoorthy (Author) (Other); Lucia Lacerda (Author) (Other); Maria Joao Prata (Author) (FCUP); Sandra Alves (Author) (Other)

2012

Scientific classification Indexing

Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene

Fernandes, AA (Author) (Other); Grangeia, A (Author) (FMUP); Dias, L (Author) (Other); Guimaraes, J (Author) (Other)

2023

Indexing

After Angelina and the Supreme Court Decision, Where Do We Go from Here? BRCA Gene Testing in Rhode Island's Portuguese Population

Benson, C (Author) (Other); Stobie, L (Author) (Other); Shur, N (Author) (Other); Yuan, ZL (Author) (Other); Manuel R Teixeira (Author) (ICBAS); Chung, M (Author) (Other)

2014

Indexing

Article in International Scientific Journal

Intellectual disability and overgrowthA new case of 19p13.13 microdeletion syndrome with digital abnormalities

Jorge, R (Author) (Other); Silva, C (Author) (Other); Agueda, S (Author) (Other); doria, s (Author) (FMUP); Leao, M (Author) (Other)

2015

Indexing

Diagnosis of Chediak Higashi disease in a 67-year old woman

Yarnell, DS (Author) (Other); Roney, JC (Author) (Other); Teixeira, C (Author) (FMUP); Freitas, MI (Author) (Other); Cipriano, A (Author) (Other); Leuschner, P (Author) (Other); Krzewski, K (Author) (Other); Stephen, J (Author) (Other); Dorward, H (Author) (Other); Gahl, WA (Author) (Other); Gochuico, BR (Author) (Other); Toro, C (Author) (Other); Malicdan, MC (Author) (Other); Introne, WJ (Author) (Other)

2020

Indexing

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