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Ernest Turro

Showing results (41-50 of 81) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2024
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorderAndrea Accogli, Young N Park, Guy M Lenk, et al.
Haematologica|December 22, 2018
Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diathesesRinske van Oorschot, Anna E Marneth, Saskia M Bergevoet, et al.
The Journal of Allergy and Clinical Immunology|February 3, 2018
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndromeJessica Heremans, Josselyn E Garcia-Perez, Ernest Turro, et al.
Nature Communications|March 30, 2016
Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architectureSimon Stritt, Paquita Nurden, Remi Favier, et al.
Medrxiv : the Preprint Server for Health Sciences|September 5, 2025
Biallelic variants in <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
Blood|June 23, 2017
Expanded repertoire of <i>RASGRP2</i> variants responsible for platelet dysfunction and severe bleedingSarah K Westbury, Matthias Canault, Daniel Greene, et al.
Journal of Thrombosis and Haemostasis : JTH|July 5, 2024
Prospective, international, multisite comparison of platelet isolation techniques for genome-wide transcriptomics: communication from the SSC of the ISTHMeenakshi Banerjee, Jesse W Rowley, Chris J Stubben, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|January 11, 2024
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney DiseaseFelix Richter, Kayleigh D Rutherford, Anisha J Cooke, et al.
Haematologica|September 25, 2016
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitorsMarjorie Poggi, Matthias Canault, Marie Favier, et al.
Haematologica|April 18, 2020
Identification of a homozygous recessive variant in <i>PTGS1</i> resulting in a congenital aspirin-like defect in platelet functionMelissa V Chan, Melissa A Hayman, Suthesh Sivapalaratnam, et al.
Pageof 9

Showing results (41-50 of 81) with videos related to

Sort By:
Pageof 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2024
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorderAndrea Accogli, Young N Park, Guy M Lenk, et al.
Haematologica|December 22, 2018
Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diathesesRinske van Oorschot, Anna E Marneth, Saskia M Bergevoet, et al.
The Journal of Allergy and Clinical Immunology|February 3, 2018
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndromeJessica Heremans, Josselyn E Garcia-Perez, Ernest Turro, et al.
Nature Communications|March 30, 2016
Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architectureSimon Stritt, Paquita Nurden, Remi Favier, et al.
Medrxiv : the Preprint Server for Health Sciences|September 5, 2025
Biallelic variants in <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
Blood|June 23, 2017
Expanded repertoire of <i>RASGRP2</i> variants responsible for platelet dysfunction and severe bleedingSarah K Westbury, Matthias Canault, Daniel Greene, et al.
Journal of Thrombosis and Haemostasis : JTH|July 5, 2024
Prospective, international, multisite comparison of platelet isolation techniques for genome-wide transcriptomics: communication from the SSC of the ISTHMeenakshi Banerjee, Jesse W Rowley, Chris J Stubben, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|January 11, 2024
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney DiseaseFelix Richter, Kayleigh D Rutherford, Anisha J Cooke, et al.
Haematologica|September 25, 2016
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitorsMarjorie Poggi, Matthias Canault, Marie Favier, et al.
Haematologica|April 18, 2020
Identification of a homozygous recessive variant in <i>PTGS1</i> resulting in a congenital aspirin-like defect in platelet functionMelissa V Chan, Melissa A Hayman, Suthesh Sivapalaratnam, et al.
Pageof 9