Showing results (171-180 of 386) with videos related to

Sort By:
Pageof 39
Nature Genetics|April 30, 2003
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemiaMarco Tartaglia, Charlotte M Niemeyer, Alessandra Fragale, et al.
American Journal of Medical Genetics. Part A|June 4, 2014
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotypeJonathan J Edwards, Simone Martinelli, Luca Pannone, et al.
NPJ Digital Medicine|October 31, 2025
Toward governance of artificial intelligence in pediatric healthcareFelix Richter, Emma Holmes, Florian Richter, et al.
Clinical Genetics|September 2, 2008
PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findingsK A Lee, B Williams, K Roza, et al.
Circulation. Genomic and Precision Medicine|July 6, 2021
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric MyocarditisAmy R Kontorovich, Yingying Tang, Nihir Patel, et al.
American Journal of Medical Genetics. Part A|June 11, 2005
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patientDebora R Bertola, Alexandre C Pereira, Fábio Passetti, et al.
Vascular Medicine (London, England)|January 10, 2022
Cardiovascular manifestations of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disordersEman R Rashed, Tania Ruiz Maya, Jennifer Black, et al.
Heart Failure Clinics|March 12, 2018
Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathiesGiulio Calcagni, Rachele Adorisio, Simone Martinelli, et al.
Developmental Biology|December 31, 2003
Transcription factor Ap-2alpha is necessary for development of embryonic melanophores, autonomic neurons and pharyngeal skeleton in zebrafishErin K O'Brien, Claudia d'Alençon, Gregory Bonde, et al.
JIMD Reports|January 26, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical FeaturesRory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
Pageof 39