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Bruce D Gelb

Showing results (71-80 of 284) with videos related to

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American Journal of Human Genetics|September 10, 2010
Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humansAudrey C Au, Paolo A Hernandez, Ernest Lieber, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|August 6, 2011
Cathepsin K deficiency reduces elastase perfusion-induced abdominal aortic aneurysms in miceJiusong Sun, Galina K Sukhova, Jie Zhang, et al.
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.
Journal of the American College of Cardiology|May 4, 2019
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-InhibitionGregor Andelfinger, Christopher Marquis, Marie-Josée Raboisson, et al.
NPJ Digital Medicine|October 31, 2025
Toward governance of artificial intelligence in pediatric healthcareFelix Richter, Emma Holmes, Florian Richter, 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.
Pageof 29

Showing results (71-80 of 284) with videos related to

Sort By:
Pageof 29
American Journal of Human Genetics|September 10, 2010
Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humansAudrey C Au, Paolo A Hernandez, Ernest Lieber, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|August 6, 2011
Cathepsin K deficiency reduces elastase perfusion-induced abdominal aortic aneurysms in miceJiusong Sun, Galina K Sukhova, Jie Zhang, et al.
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.
Journal of the American College of Cardiology|May 4, 2019
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-InhibitionGregor Andelfinger, Christopher Marquis, Marie-Josée Raboisson, et al.
NPJ Digital Medicine|October 31, 2025
Toward governance of artificial intelligence in pediatric healthcareFelix Richter, Emma Holmes, Florian Richter, 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.
Pageof 29