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Plastic and Reconstructive Surgery|March 5, 2008
The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosisM Barbera Honnebier, David S Cabiling, Maria Hetlinger, et al.
American Journal of Medical Genetics. Part A|December 9, 2021
Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patientsDong Li, Helen Downes, Cuiping Hou, et al.
The Journal of Craniofacial Surgery|June 27, 2015
New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign SynostosisYoussef Tahiri, Nicholas Bastidas, Donna M McDonald-McGinn, et al.
American Journal of Medical Genetics. Part A|August 6, 2003
Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21Ralph J DeBerardinis, Danielle Conforto, Karen Russell, et al.
American Journal of Medical Genetics|January 2, 1995
Duplication 3q syndrome: molecular delineation of the critical regionM S Aqua, P Rizzu, E A Lindsay, et al.
American Journal of Medical Genetics. Part A|June 29, 2010
Metopic craniosynostosis due to mutations in GLI3: A novel associationDonna M McDonald-McGinn, Holly Feret, Hyun-Duck Nah, et al.
American Journal of Medical Genetics. Part A|October 27, 2018
Neurologic challenges in 22q11.2 deletion syndromeSarah E Hopkins, Madeline Chadehumbe, Terrence Blaine Crowley, et al.
Pediatrics|May 23, 1998
Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotypeS A Weinzimer, D M McDonald-McGinn, D A Driscoll, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|September 5, 2008
Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndromeElizabeth Goldmuntz, Deborah A Driscoll, Beverly S Emanuel, et al.
International Journal of Pediatric Otorhinolaryngology|April 10, 2017
Association of airway abnormalities with 22q11.2 deletion syndromeRosalba Sacca, Karen B Zur, T Blaine Crowley, et al.
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