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FORTUNA, ANA MARIA [Author]
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Carmona, Carla et al.
The clinical and neurocognitive features of Digeorge syndrome patients of Centro de Genética Médica Doutor Jacinto Magalhães
.
Nascer e Crescer
, Dec 2016, vol.25, suppl.1, p.20-20. ISSN 0872-0754
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Vieira, Emília et al.
A novel missense mutation in the alphatropomyosin (TPM1) gene in a family affected with hypertrophic cardiomyopathy
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Nascer e Crescer
, Dec 2016, vol.25, suppl.1, p.15-15. ISSN 0872-0754
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Sá, Maria João et al.
Phenotypic spectrum of
DCX
pathogenic mutations in females
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from childhood to adulthood clinical onset
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Nascer e Crescer
, Feb 2015, vol.24, suppl.1, p.23-24. ISSN 0872-0754
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Tkachenko, Natália et al.
Síndrome de deleção 22q11.2
:
diagnóstico em idade adulta - experiência do Centro de Genética Médica Doutor Jacinto Magalhães - CHP
.
Nascer e Crescer
, Fev 2015, vol.24, suppl.1, p.14-14. ISSN 0872-0754
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Tkachenko, Natália et al.
Síndrome de Noonan
:
revisão da casuística do Centro de Genética Médica Dr. Jacinto de Magalhães - CHP
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Nascer e Crescer
, Nov 2014, vol.23, suppl.3, p.11-11. ISSN 0872-0754
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Oliveira, Fernanda Paula et al.
Distal XQ27->Q28 duplication and functional disomy
:
clinical and cytogenetic characterization
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Nascer e Crescer
, Mar 2014, vol.23, suppl.1, p.21-21. ISSN 0872-0754
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Sá, Maria João et al.
MX-linked centronuclear myopathy
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from clinical diagnosis to genetic counseling
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Nascer e Crescer
, Mar 2014, vol.23, suppl.1, p.18-18. ISSN 0872-0754
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Tkachenko, Natália et al.
Translocação (X;10) aparentemente equilibrada
de novo
no sexo feminino
:
caso clínico
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Nascer e Crescer
, Mar 2014, vol.23, suppl.1, p.16-16. ISSN 0872-0754
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Soares, Gabriela, Tkachenko, Natália and Fortuna, Ana Maria
Craniofrontonasal syndrome
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case report
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Nascer e Crescer
, Mar 2014, vol.23, suppl.1, p.16-16. ISSN 0872-0754
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Pinto, Maximina Rodrigues et al.
Aplicação de uma técnica inovadora de FISH na investigação do atraso mental idiopático
.
Arq Med
, Fev 2006, vol.20, no.1-2, p.19-24. ISSN 0871-3413
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abstract in portuguese
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