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Arthrogryposis multiplex congenita affecting a monochorionic diamniotic twin pr...

Brás,Rafael; Veloso,Helena; Moleiro,Maria; Rodrigues,Sofia; Inocêncio,Gonçalo; Mota,Céu; Soares,Gabriela; Rodrigues,Maria do Céu; Braga,Jorge

Arthrogryposis multiplex congenita is a clinically and etiologically heterogeneous group of diseases characterized by presence of contractures involving at least two different body areas. It is observed in one in every 3000-5000 live births. A case of singleton arthrogryposis in a spontaneous monochorionic diamniotic twin pregnancy is reported. Diagnosis was established after morphological ultrasound. There wer...

Date: 2018   |   Origin: SciELO Portugal
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Síndrome da deleção 22q11.2, a propósito de um caso clínico

Moreira,Marta; Correia,Patrícia; Rodrigues,Sofia; Inocêncio,Gonçalo; Soares,Gabriela; Álvares,Sílvia; Rodrigues,Maria do Céu

Date: 2016   |   Origin: SciELO Portugal
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The clinical and neurocognitive features of Digeorge syndrome patients of Centr...

Carmona,Carla; Pereira,Mariana R; Soares,Gabriela; Nabais,Maria João; Tkachenko,Natalyia; Fortuna,Ana Maria

Date: 2016   |   Origin: SciELO Portugal
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Síndrome de Potocki-Lupski: microduplicação 17P11.2 e anomalias cardíacas

Lopes,Elisa; Pires,Sílvia; Candeias,Cristina; Oliva-Teles,Natália; Freitas,Manuela Mota; Tkachenko,Nataliya; Soares,Gabriela; Loureiro,Marília

Date: 2016   |   Origin: SciELO Portugal
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Síndrome de deleção 22q11.2: diagnóstico em idade adulta - experiência do Centr...

Tkachenko,Natália; Soares,Gabriela; Sá,Maria João; Soares,Ana Rita; Fortuna,Ana Maria

Date: 2015   |   Origin: SciELO Portugal
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Male infertility and chromosome aberrations: two case reports

Oliveira,Fernanda Paula; Teles,Natália Oliva; Freitas,Manuela Mota; Soares,Gabriela; Silva,Maria da Luz Fonseca e

Date: 2015   |   Origin: SciELO Portugal
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Phenotypic spectrum of DCX pathogenic mutations in females: from childhood to a...

Sá,Maria João; Chorão,Rui; Santos,Manuela; Fortuna,Ana Maria; Soares,Gabriela

Date: 2015   |   Origin: SciELO Portugal
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Craniofrontonasal syndrome: case report

Soares,Gabriela; Tkachenko,Natália; Fortuna,Ana Maria

Date: 2014   |   Origin: SciELO Portugal
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Translocação (X;10) aparentemente equilibrada de novo no sexo feminino: caso cl...

Tkachenko,Natália; Soares,Gabriela; Silva,Maria da Luz; Martins,Teresa; Fortuna,Ana Maria

Date: 2014   |   Origin: SciELO Portugal
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MX-linked centronuclear myopathy: from clinical diagnosis to genetic counseling

Sá,Maria João; Soares,Ana Rita; Soares,Gabriela; Fortuna,Ana Maria; Taipa,Ricardo; Pires,Manuel Melo; Oliveira,Jorge; Santos,Rosário; Santos,Manuela

Date: 2014   |   Origin: SciELO Portugal
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