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Brain Calcifications in Complex Sexual Aneuploidy

Movement disorders clinical practice (Hoboken, N.J.), 2021-11, Vol.8 (8), p.1266-1268

2021

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Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system

Human genome variation, 2024-10, Vol.11 (1), p.38-6, Article 38

2024

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Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn

Curēus (Palo Alto, CA), 2023-10

2023

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Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern

Taiwanese journal of obstetrics & gynecology, 2022-01, Vol.61 (1), p.150-152

2022

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Blueberry Muffin Syndrome and Hyperleukocytosis in a Newborn: A Diagnostic Challenge

Curēus (Palo Alto, CA), 2024-01

2024

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A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)

Biomedicines, 2022-12, Vol.11 (1), p.12

2022

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Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases

Acta medica portuguesa, 2019-08, Vol.32 (7-8), p.529-535

2019

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Diagnóstico genético pré-implantação: aspetos técnicos e considerações éticas

Acta médica portuguesa, 2012-06, Vol.24 (6), p.987-96

Oliva Teles, Natália

2012

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The sense of responsibility in the context of professional activities in Medical Genetics

Medicine, health care, and philosophy, 2011-11, Vol.14 (4), p.397-405

Oliva-Teles, Natália

2011

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20 years of the ICRC Code of Conduct for Disaster Relief: what do we need to improve?

The Lancet (British edition), 2015-04, Vol.385 (9976), p.1391-1391

2015

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Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

International journal of environmental research and public health, 2020-12, Vol.17 (24), p.9253

2020

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Disease modelling and drug development with iPSC-derived cells: a brave new world?

Nascer e crescer, 2020-01, Vol.29 (1), p.7-8

Oliva-Teles, Natália

2020

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Genetics, Big Data and Globalisation: are we satisfied yet?

Nascer e crescer, 2018-12, Vol.27 (4), p.225-226

Oliva-Teles, Natália

2018

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Avaliação do conhecimento dos anestesiologistas sobre cuidados paliativos

Revista bioética, 2014-08, Vol.22 (2), p.373-379

2014

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Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium

European journal of medical genetics, 2020-12, Vol.63 (12), p.104093-104093, Article 104093

2020

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Lifting the Burden of Sudden Cardiac Arrest Through International Collaboration

JACC. Advances (Online), 2024-09, p.101226, Article 101226

2024

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Preimplantation genetic diagnosis: technical and ethical considerations

Acta medica portuguesa, 2011-11, Vol.24 (6), p.987

Oliva Teles, Natália

2011

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Bioética e Documentos Nacionais e Internacionais

Nascer e crescer, 2013-03, Vol.22 (1), p.38-41

Oliva-Teles, Natália

2013

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Ética e genética

Nascer e crescer, 2014-03, Vol.23 (suppl 1), p.11-11

Teles, Natália Oliva

2014

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Editorial

Nascer e crescer, 2013-09, Vol.22 (3), p.139-139

Teles, Natália Oliva

2013

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3P Deletion syndrome and congenital heart disease: case report

Nascer e crescer, 2016-12, Vol.25 (suppl 1), p.24-24

2016

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Congenital diaphragmatic hernia in a patient with tetrasomy 9p

Journal of pediatric surgery, 2005-10, Vol.40 (10), p.e29-e31

2005

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Síndrome de Digeorge/velocardiofacial: resultados do laboratório de citogenética do CGMJM por técnicas de FISH e MLPA

Nascer e crescer, 2016-12, Vol.25 (suppl 1), p.24-24

2016

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Síndrome de Potocki-Lupski: microduplicação 17P11.2 e anomalias cardíacas

Nascer e crescer, 2016-12, Vol.25 (suppl 1), p.23-23

2016

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As Perturbações do Espectro do Autismo: Avanços da Biologia Molecular

Nascer e crescer, 2013-03, Vol.22 (1), p.19-24

2013

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Brain Calcifications in Complex Sexual Aneuploidy

Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system

Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn

Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern

Blueberry Muffin Syndrome and Hyperleukocytosis in a Newborn: A Diagnostic Challenge

A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)

Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases

Diagnóstico genético pré-implantação: aspetos técnicos e considerações éticas

The sense of responsibility in the context of professional activities in Medical Genetics

20 years of the ICRC Code of Conduct for Disaster Relief: what do we need to improve?

Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

Disease modelling and drug development with iPSC-derived cells: a brave new world?

Genetics, Big Data and Globalisation: are we satisfied yet?

Avaliação do conhecimento dos anestesiologistas sobre cuidados paliativos

Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium

Lifting the Burden of Sudden Cardiac Arrest Through International Collaboration

Preimplantation genetic diagnosis: technical and ethical considerations

Bioética e Documentos Nacionais e Internacionais

Ética e genética

Editorial

3P Deletion syndrome and congenital heart disease: case report

Congenital diaphragmatic hernia in a patient with tetrasomy 9p

Síndrome de Digeorge/velocardiofacial: resultados do laboratório de citogenética do CGMJM por técnicas de FISH e MLPA

Síndrome de Potocki-Lupski: microduplicação 17P11.2 e anomalias cardíacas

As Perturbações do Espectro do Autismo: Avanços da Biologia Molecular

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