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American Journal of Medical Genetics. Part A|August 13, 2019
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classificationBrian C Kavanaugh, Emily B Warren, Ozan Baytas, et al.American Journal of Medical Genetics. Part A|August 11, 2019
Coffin-Lowry syndrome in ChineseJasmine L F Fung, Kavitha Rethanavelu, Ho-Ming Luk, et al.American Journal of Medical Genetics. Part A|February 2, 2021
Auditory phenotype of Smith-Lemli-Opitz syndromeChristopher K Zalewski, Sarah A Sydlowski, Kelly A King, et al.American Journal of Medical Genetics. Part A|August 8, 2019
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorderFrançois Lecoquierre, Antoine Bonnevalle, Alexandra Chadie, et al.American Journal of Medical Genetics. Part A|May 14, 2011
Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone ageHan Zhang, Xianglan Lu, Julie Beasley, et al.American Journal of Medical Genetics. Part A|May 14, 2011
GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screeningNamik Kaya, Mohammad Al-Owain, Nada Abudheim, et al.American Journal of Medical Genetics. Part A|May 14, 2011
Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic featuresKosuke Izumi, Amanda Hahn, Laurie Christ, et al.American Journal of Medical Genetics. Part A|May 14, 2011
A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a familyDar-Shong Lin, Chun-Yan Yeung, Hsuan-Liang Liu, et al.American Journal of Medical Genetics. Part A|May 14, 2011
Age related change in social behavior in children with Angelman syndromeDawn Adams, Kate Horsler, Chris OliverAmerican Journal of Medical Genetics. Part A|May 14, 2011
Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complexFilippo Spreafico, Lucia Dora Notarangelo, Richard Fabian Schumacher, et al.Pageof 928