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List of works by Jorge M. Saraiva

Abnormal Brain Activation in Neurofibromatosis Type 1: A Link between Visual Processing and the Default Mode Network ⬇️

scientific article published on June 18, 2012

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

scientific article published on 26 September 2019

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

scientific article published on 01 January 1992

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region ⬇️

scientific article published on May 2, 2012

Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene

scientific article

Genetic Counseling in Portugal: Education, Practice and a Developing Profession

scientific article published on 3 March 2015

Joubert syndrome: a review

scientific article published on July 1, 1992

Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach ⬇️

scientific article published on 01 January 2013

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome.

scientific article published in June 2015

Progressive diaphyseal dysplasia: A three-generation family with markedly variable expressivity ⬇️

scientific article published on August 22, 1997

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