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Items: 3

Select item 88308091.

Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects

Xiangrong Cui, Xueqing Wu, Hongwei Wang, Sanyuan Zhang, Wei Wang, Xuan Jing

Mol Genet Genomic Med. 2022 Feb; 10(2): e1863. Published online 2022 Jan 16. doi: 10.1002/mgg3.1863

PMCID:: PMC8830809

Abstract Article PDF–931K

Select item 55570752.

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

Bret L. Bostwick, Scott McLean, Jennifer E. Posey, Haley E. Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K. Grange, Marisa V. Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L. Jefferies, Members of the Undiagnosed Diseases Network, Jill A. Rosenfeld, Lisa Emrick, Kimberly M. Nugent, James R. Lupski, John W. Belmont, Brendan Lee, Seema R. Lalani

Genome Med. 2017; 9: 73. Published online 2017 Aug 14. doi: 10.1186/s13073-017-0463-8

PMCID:: PMC5557075

Abstract Article PDF–5.6M

Select item 66942113.

Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13

Monika Nováková, Marek Hampl, Dávid Vrábel, Jan Procházka, Silvia Petrezselyová, Michaela Procházková, Radislav Sedláček, Michaela Kavková, Tomáš Zikmund, Jozef Kaiser, Hsien-Chia Juan, Ming-Ji Fann, Marcela Buchtová, Jiří Kohoutek

Front Cell Dev Biol. 2019; 7: 155. Published online 2019 Aug 7. doi: 10.3389/fcell.2019.00155