Publications by authors named "Laura V Vandervore"

3 Publications

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

Authors:

Laura V Vandervore Rachel Schot Chiara Milanese Daphne J Smits Esmee Kasteleijn Andrew E Fry Daniela T Pilz Stefanie Brock Esra Börklü-Yücel Marco Post Nadia Bahi-Buisson María José Sánchez-Soler Marjon van Slegtenhorst Boris Keren Alexandra Afenjar Stephanie A Coury Wen-Hann Tan Renske Oegema Linda S de Vries Katherine A Fawcett Peter G J Nikkels Aida Bertoli-Avella Amal Al Hashem Abdulmalik A Alwabel Kalthoum Tlili-Graiess Stephanie Efthymiou Faisal Zafar Nuzhat Rana Farah Bibi Henry Houlden Reza Maroofian Richard E Person Amy Crunk Juliann M Savatt Lisbeth Turner Mohammad Doosti Ehsan Ghayoor Karimiani Nebal Waill Saadi Javad Akhondian Maarten H Lequin Hülya Kayserili Peter J van der Spek Anna C Jansen Johan M Kros Robert M Verdijk Nataša Jovanov Milošević Maarten Fornerod Pier Giorgio Mastroberardino Grazia M S Mancini

Am J Hum Genet 2019 12 14;105(6):1126-1147. Epub 2019 Nov 14.

Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands. Electronic address:

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December 2019

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Brain 2019 04;142(4):867-884

Department of Clinical Genetics, Erasmus University Medical Center (Erasmus MC), CA Rotterdam, The Netherlands.

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April 2019

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.

Authors:

Laura V Vandervore Rachel Schot A Jeannette M Hoogeboom Carsten Lincke Irenaeus F de Coo Maarten H Lequin Marjolein Dremmen Leontine M A van Unen Jasper J Saris Anna C Jansen Marjon A van Slegtenhorst Martina Wilke Grazia M S Mancini

Eur J Med Genet 2018 Dec 31;61(12):783-789. Epub 2018 Oct 31.

Department Clinical Genetics, Erasmus MC Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands. Electronic address:

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December 2018

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