Natalia Teles-Oliva
Ferreira, 4050313, Portugal
Last Updated: 09/26/2026
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Found 11 publications
The role of satellite DNA-enriched heterochromatic variants in reproductive disorders: Insights from standardized cytogenetic analysis.
Journal: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology
Published: January 07, 2026
MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis.
Journal: European journal of human genetics : EJHG
Published: February 07, 2025
Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system.
Journal: Human genome variation
Published: June 11, 2024
Blueberry Muffin Syndrome and Hyperleukocytosis in a Newborn: A Diagnostic Challenge.
Journal: Cureus
Published: January 24, 2024
Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn.
Journal: Cureus
Published: September 30, 2023
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).
Journal: Biomedicines
Published: November 16, 2022
Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern.
Journal: Taiwanese journal of obstetrics & gynecology
Published: October 17, 2021
Brain Calcifications in Complex Sexual Aneuploidy.
Journal: Movement disorders clinical practice
Published: December 15, 2020
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature.
Journal: International journal of environmental research and public health
Published: November 03, 2020
Showing 1-11 of 11
Last Updated: 09/26/2026