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The Application of Clinical Genetics
|
May 5, 2025
NIPT of Maternal Plasma-Originated cfDNA: Applications and Guide for the Implementation
Fco Javier Fernández Martínez, M Mar Gil Mira, Cristina González González, et al.
Child Neurology Open
|
May 16, 2017
<i>MECP2</i> Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum
Victoria San Antonio-Arce, María Fenollar-Cortés, Raluca Oancea Ionescu, et al.
European Journal of Obstetrics & Gynecology and Reproductive Biology: X
|
August 10, 2019
A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening
Carmen Cotarelo-Pérez, Raluca Oancea-Ionescu, Eloy Asenjo-de-la-Fuente, et al.
European Journal of Human Genetics : EJHG
|
December 2, 2024
Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD
Xavier Vendrell, Anna Abulí, Clara Serra, et al.
International Journal of Molecular Sciences
|
December 10, 2021
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the <i>NHS</i> Gene in a Patient with Syndromic Cataracts
Alejandra Damián, Raluca Oancea Ionescu, Marta Rodríguez de Alba, et al.
Neuropediatrics
|
September 20, 2022
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families
Emma Soengas-Gonda, Rubén Pérez de la Fuente, Ana Arteche-López, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
The Application of Clinical Genetics
|
May 5, 2025
NIPT of Maternal Plasma-Originated cfDNA: Applications and Guide for the Implementation
Fco Javier Fernández Martínez, M Mar Gil Mira, Cristina González González, et al.
Child Neurology Open
|
May 16, 2017
<i>MECP2</i> Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum
Victoria San Antonio-Arce, María Fenollar-Cortés, Raluca Oancea Ionescu, et al.
European Journal of Obstetrics & Gynecology and Reproductive Biology: X
|
August 10, 2019
A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening
Carmen Cotarelo-Pérez, Raluca Oancea-Ionescu, Eloy Asenjo-de-la-Fuente, et al.
European Journal of Human Genetics : EJHG
|
December 2, 2024
Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD
Xavier Vendrell, Anna Abulí, Clara Serra, et al.
International Journal of Molecular Sciences
|
December 10, 2021
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the <i>NHS</i> Gene in a Patient with Syndromic Cataracts
Alejandra Damián, Raluca Oancea Ionescu, Marta Rodríguez de Alba, et al.
Neuropediatrics
|
September 20, 2022
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families
Emma Soengas-Gonda, Rubén Pérez de la Fuente, Ana Arteche-López, et al.
Page
of 1