Showing results (111-120 of 123) with videos related to

Sort By:
Pageof 13
American Journal of Human Genetics|May 29, 2018
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft PalateLiza L Cox, Timothy C Cox, Lina M Moreno Uribe, et al.
American Journal of Human Genetics|July 16, 2019
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental DisorderLot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, et al.
HGG Advances|November 21, 2022
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorderLot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
Journal of the American College of Cardiology|April 4, 2015
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissectionsAida M Bertoli-Avella, Elisabeth Gillis, Hiroko Morisaki, et al.
American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderDaniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, et al.
American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.
Nature Communications|May 4, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and languageLot Snijders Blok, Justine Rousseau, Joanna Twist, et al.
American Journal of Human Genetics|August 4, 2015
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingLot Snijders Blok, Erik Madsen, Jane Juusola, et al.
Pageof 13