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American Journal of Medical Genetics. Part A|November 28, 2020
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental surveyKatherine Abell, Robert J Hopkin, Patricia L Bender, et al.
American Journal of Medical Genetics. Part A|September 29, 2023
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathiesCarolyn R Serbinski, April Vanderwal, Sarah E Chadwell, et al.
Pediatric Cardiology|January 8, 2025
Anomalous Left Coronary Artery from the Pulmonary Artery in Three Patients with MYRF-Associated Cardiac-Urogenital SyndromeKristian C Becker, Russel Hirsch, Paul J Critser, et al.
Plastic and Reconstructive Surgery. Global Open|June 21, 2018
Management of Airway Obstruction in Infants With Pierre Robin SequenceChristopher M Runyan, Armando Uribe-Rivera, Shahryar Tork, 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.
American Journal of Medical Genetics. Part A|November 26, 2022
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndromeElizabeth K Baker, Casey J Brewer, Leonardo Ferreira, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritisK Nicole Weaver, Moussa El Hallek, Robert J Hopkin, et al.
American Journal of Medical Genetics. Part A|September 27, 2021
Robin sequence without cleft palate: Genetic diagnoses and management implicationsK Nicole Weaver, Bonnie R Sullivan, Stephanie A Balow, et al.
HGG Advances|May 20, 2026
Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACAK Nicole Weaver, Jan W Broeckel, Kari Brown, et al.
HGG Advances|May 23, 2022
Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac developmentEliyahu Perl, Padmapriyadarshini Ravisankar, Manu E Beerens, et al.
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