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European Journal of Human Genetics : EJHG|April 3, 2019
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled femalesMarcello Scala, Annalaura Torella, Mariasavina Severino, et al.
European Journal of Human Genetics : EJHG|March 20, 2019
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patientsMargherita Maioli, Maria Gnoli, Manila Boarini, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Genetic variants associated with type 2 diabetes and adiposity and risk of intracranial and abdominal aortic aneurysmsFemke Ng van 't Hof, Julien Vaucher, Michael V Holmes, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTBAlan O'Brien, Christian R Marshall, Susan Blaser, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndromeMichèl A Willemsen, Lisenka Elm Vissers, Marcel M Verbeek, et al.
European Journal of Human Genetics : EJHG|August 10, 2019
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalitiesRenee Bend, Lior Cohen, Melissa T Carter, et al.
European Journal of Human Genetics : EJHG|March 30, 2019
Correction: Educational delay and attainment in persons with neurofibromatosis 1 in DenmarkKaroline Doser, Line Kenborg, Elisabeth Wreford Andersen, et al.
European Journal of Human Genetics : EJHG|March 30, 2019
Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countriesThomas Liehr, Isabel M Carreira, Zsofia Balogh, et al.
European Journal of Human Genetics : EJHG|September 5, 2019
School level of children carrying a HNF1B variant or a deletionFanny Laliève, Stéphane Decramer, Laurence Heidet, et al.
European Journal of Human Genetics : EJHG|September 7, 2019
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegiaMaartje Pennings, Meyke I Schouten, Judith van Gaalen, et al.
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