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Paper Details

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
39
2019
Author NameAffiliation
Jeroen A A DemmersErasmus University Medical Center. Wytemaweg 80
Anna C JansenVrije Universiteit Brussel
Wojciech WiszniewskiOregon Health & Sciences University, USA Institute of Mother and Child
Fowzan S AlkurayaKing Faisal Specialist Hospital and Research Center
Joseph G GleesonHoward Hughes Medical Institute, University of California
Maha S ZakiClinical Genetics Department, National Research Centre
Ghayda M MirzaaUniversity of Washington, USA Center for Integrative Brain Research, Seattle Children's Research Institute
William B DobynsUniversity of Washington
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Datasets

Release 1.2