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American Journal of Medical Genetics. Part A|August 2, 2017
Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?Paul McIntosh, Stephanie Austin, Jennifer Sullivan, et al.
American Journal of Medical Genetics. Part A|August 3, 2017
Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delaysBeate Peter, Hope Lancaster, Caitlin Vose, et al.
American Journal of Medical Genetics. Part A|June 7, 2016
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional casesYuri A Zarate, Elizabeth Bhoj, Julie Kaylor, et al.
American Journal of Medical Genetics. Part A|June 9, 2016
Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility SyndromeClaire Bovet, Matthew Carlson, Matthew Taylor
American Journal of Medical Genetics. Part A|June 25, 2016
Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relativesEllen A Croonen, Mirjam Harmsen, Ineke Van der Burgt, et al.
American Journal of Medical Genetics. Part A|June 30, 2016
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter studyNicky Halbach, Eric E Smeets, Peter Julu, et al.
American Journal of Medical Genetics. Part A|June 30, 2016
Siblings with severe pyruvate kinase deficiency and a complex genotypeRobert D Christensen, Hassan M Yaish, Roberto H Nussenzveig, et al.
American Journal of Medical Genetics. Part A|August 5, 2017
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disabilityLaura Gieldon, Luisa Mackenroth, Elitza Betcheva-Krajcir, et al.
American Journal of Medical Genetics. Part A|September 24, 2015
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsyLeah Fleming, Monica Lemmon, Natalie Beck, et al.
American Journal of Medical Genetics. Part A|November 26, 2015
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasiaSilvana van Koningsbruggen, Hennie Knoester, Roel Bakx, et al.
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