Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Alejandro Parra

8PUBLICATIONS

39CO-AUTHORS

NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Foetal development and medicineRespiratory diseasesNeurology and neuromuscular diseases

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (8)

Sort by Publication Date:

|Apr 03, 2025

A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.

Alejandro Parra, Mario Cazalla, Juan A Jimenez-Estrada

|Nov 14, 2024

AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.

Natalia Gallego-Zazo, Jair Tenorio-Castano, Alejandro Parra

|Aug 27, 2024

Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.

Jair Tenorio-Castano, Elena Mansilla Aparicio, Fe Amalia García Santiago

|Aug 19, 2024

Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.

Alex F Nisbet, Aravind Viswanathan, Andrew M George

|Oct 28, 2023

Seven Additional Patients with <i>SOX17</i> Related Pulmonary Arterial Hypertension and Review of the Literature.

Natalia Gallego-Zazo, Lucía Miranda-Alcaraz, Alejandro Cruz-Utrilla

|Sep 28, 2023

Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review.

Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot

Pageof 2

Frequent Collaborators

6 joint publications

Pablo Lapunzina

4 joint publications

Jair Tenorio-Castano

3 joint publications

Natalia Gallego-Zazo

3 joint publications

Patricia Pascual

2 joint publications

María Palomares

1 joint publications

Karen E Heath

1 joint publications

John Pappas

1 joint publications

Alfredo Santana

1 joint publications

Yasemin Alanay

1 joint publications

Ozlem Akgun-Dogan

Frequent Collaborators

6 joint publications

Pablo Lapunzina

4 joint publications

Jair Tenorio-Castano

3 joint publications

Natalia Gallego-Zazo

3 joint publications

Patricia Pascual

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System

Published on : May 05, 2018

See more related videos

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System

Published on : May 05, 2018

See more related videos