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American Journal of Medical Genetics. Part A|November 26, 2013
Invited editorial comment--The human phenotype of germline PIGA mutationsLeslie G Biesecker
American Journal of Medical Genetics. Part A|August 15, 2015
Atypical Williams syndrome in an infant with complete atrioventricular canal defectRebecca C Ahrens-Nicklas, Sara L Reichert, Elaine H Zackai, et al.
American Journal of Medical Genetics. Part A|August 19, 2015
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutationsMona Aglan, Khalda Amr, Samira Ismail, et al.
American Journal of Medical Genetics. Part A|August 21, 2015
Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancyDylan A Mordaunt, Liam C McIntyre, Hayley Salvemini, et al.
American Journal of Medical Genetics. Part A|April 27, 2016
Three cases of Troyer syndrome in two families of Filipino descentShauna Butler, Katherine L Helbig, Wendy Alcaraz, et al.
American Journal of Medical Genetics. Part A|April 27, 2016
The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genesKaren W Gripp, Laura Baker, Aida Telegrafi, et al.
American Journal of Medical Genetics. Part A|April 27, 2016
Macrodactyly in tuberous sclerosis complex: Case report and review of the literatureMariana Soeiro E Sá, Oana Moldovan, Ana Berta Sousa
American Journal of Medical Genetics. Part A|April 23, 2016
The society for craniofacial genetics and developmental biology 38th annual meetingLisa A Taneyhill, Julie Hoover-Fong, Scott Lozanoff, et al.
American Journal of Medical Genetics. Part A|April 26, 2016
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrumShagun Aggarwal, Aneek Das Bhowmik, Vedam L Ramprasad, et al.
American Journal of Medical Genetics. Part A|May 3, 2016
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple eventsChristine M Armour, Amanda Smith, Taila Hartley, et al.
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