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American Journal of Medical Genetics. Part A|January 7, 2022
Longitudinal analysis of symptoms in the Ehlers-Danlos syndromesJane R Schubart, Susan E Mills, Eric W Schaefer, et al.American Journal of Medical Genetics. Part A|January 7, 2022
Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variantLé Shon Peart, Joanna Gonzalez, Stephanie Bivona, et al.American Journal of Medical Genetics. Part A|October 20, 2022
ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathwayEyby Leon, Claris Nde, Randall S Ray, et al.American Journal of Medical Genetics. Part A|October 22, 2022
Elevated homocysteine levels: What inborn errors of metabolism might we be missing?Aixa Gonzalez, Geoffrey Hughes Smith, Michael J Gambello, et al.American Journal of Medical Genetics. Part A|October 22, 2022
A case with cardiac, skeletal, speech, and motor traits narrows the subtelomeric 19p13.3 microdeletion region to 46 kbBeate PeterAmerican Journal of Medical Genetics. Part A|November 1, 2022
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5Agata Oliwa, Glenda Hendson, Cheryl Longman, et al.American Journal of Medical Genetics. Part A|November 1, 2022
Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencingBarbara Biedziak, Justyna Dąbrowska, Anna Szponar-Żurowska, et al.American Journal of Medical Genetics. Part A|November 2, 2022
Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) SyndromeCarlotta Barbon, Lisanne Grünherz, Riccardo Schweizer, et al.American Journal of Medical Genetics. Part A|November 2, 2022
Familial Beckwith-Wiedemann syndrome in a multigenerational family: Forty years of careful phenotypingLyle G Best, Kelly A Duffy, Andrew M George, et al.American Journal of Medical Genetics. Part A|November 3, 2022
Gillessen-Kaesbach-Nishimura syndrome in two fetuses from TurkeyDidem Kaymak, Verda Alpay, Ebru Alıcı Davutoğlu, et al.Pageof 928