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Congenital Heart Disease|April 2, 2008
Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognitionJamie Sutherell, Yuri Zarate, Bradley T Tinkle, et al.
Clinical Case Reports|November 4, 2024
RMND1 and PLN variants are the underlying cause of Perrault-like syndrome and cardiac anomalies in a patientXiaoli Du, Cara L Barnett, Kimberly M Widmeyer, et al.
American Journal of Medical Genetics. Part A|March 11, 2006
Non-lethal congenital hypotonia due to glycogen storage disease type IVT Andrew Burrow, Robert J Hopkin, Kevin E Bove, et al.
European Journal of Medical Genetics|December 16, 2014
Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff diseaseIves T Villamizar-Schiller, Laudy A Pabón, Sophia B Hufnagel, et al.
Tissue Antigens|March 4, 2008
PTPRC (CD45) variation and disease association studied using single nucleotide polymorphism taggingB J Hennig, A E Fry, K Hirai, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|August 19, 2014
Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular diseaseK Nicole Weaver, Dehua Wang, James Cnota, et al.
Human Mutation|December 31, 2017
Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patientsHarry Lesmana, Lisa Dyer, Xia Li, et al.
Npj Aging|July 18, 2024
Rejuvenation of leukocyte trafficking in aged mice through PEPITEM interventionSophie J Hopkin, Poppy Nathan, Laleh Pezhman, et al.
Pediatrics|October 16, 2020
XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic TestingAhlee Kim, Katherine Abell, Jodie Johnson, et al.
American Journal of Human Genetics|August 1, 1997
A submicroscopic deletion in Xq26 associated with familial situs ambiguusG B Ferrero, M Gebbia, G Pilia, et al.
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