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American Journal of Medical Genetics. Part A|February 24, 2015
Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCLSarah Bieser, Martin Reis, Miguel Guzman, et al.
American Journal of Medical Genetics. Part A|February 28, 2009
An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary managementMichael J Lipinski, Shawn E Lipinski, Sanjay Kripalani, et al.
American Journal of Medical Genetics. Part A|February 22, 2019
Retinoic acid receptor beta variant-related colonic hypoganglionosisKatharine J Foster, Stephanie Q Zhang, Stephen R Braddock, et al.
Developmental Neurorehabilitation|November 5, 2013
Reported communication ability of persons with trisomy 18 and trisomy 13Cheryl A Liang, Barbara A Braddock, Jennifer L Heithaus, et al.
Medicine|August 5, 2025
Case report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencingChristina R Dantam, Elizabeth Wilkes, Holly N Summers, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 29, 2010
Genetic counseling of adults with Williams syndrome: a first studyKatrina Farwig, Amanda G Harmon, Kristina M Fontana, et al.
The American Journal of Gastroenterology|June 11, 2025
Birth outcomes in women who have taken vedolizumab in pregnancy: results from the Vedolizumab Pregnancy Exposure RegistryChristina D Chambers, Diana L Johnson, Yunjun Luo, et al.
American Journal of Medical Genetics. Part A|February 19, 2020
Further delineation of METTL23-associated intellectual disabilityMohammed Almannai, Osama Obaid, Eissa Faqeih, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary studyCarolyn B Mervis, Angela M Becerra, Melissa L Rowe, et al.
Clinical Case Reports|March 26, 2021
Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variantTimothy D Gauntner, Manasa Karumuri, Miguel A Guzman, et al.
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