Resultados de procura - Linda Rossetti
- Mostrando 1 - 3 Resultados de 3
-
1
Review of the phenotypic spectrum associated with haploinsufficiency of <i>MYRF</i> por Linda Rossetti, Kevin E. Glinton, Bo Yuan, Pengfei Liu, Nishitha R. Pillai, Elizabeth Mizerik, Pilar Magoulas, Jill A. Rosenfeld, Lefkothea Karaviti, V. Reid Sutton, Seema R. Lalani, Daryl A. Scott
Publicado 2019Revisão -
2
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review por Nishitha R. Pillai, Bridget M. Stroup, Anna Poliner, Linda Rossetti, Brandy Rawls, Brian J. Shayota, Claudia Soler‐Alfonso, Hari Priya Tunuguntala, John A. Goss, William Craigen, Fernando Scaglia, V. Reid Sutton, Ryan Himes, Lindsay C. Burrage
Publicado 2019Revisão -
3
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases por Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei‐Chu Huang, Colleen M Longley, Hsiao‐Tuan Chao, Hyunglok Chung, Nele A. Haelterman, Oguz Kanca, Sathiyanarayanan Manivannan, Linda Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaëtan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frédéric Tran Mau‐Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto
Publicado 2022Artigo
Ferramentas de procura:
Materias Relacionadas
Medicine
Biology
Gene
Genetics
Internal medicine
Phenotype
Acidosis
Agenesis
Autism
Autism spectrum disorder
Candidate gene
Congenital diaphragmatic hernia
Diaphragmatic hernia
Encephalopathy
Exome sequencing
Fetus
Genitourinary system
Haploinsufficiency
Heart disease
Hernia
Hyperammonemia
Hyperlactatemia
Hypoplasia
Hypoplastic left heart syndrome
Intensive care medicine
Liver transplantation
Lung
Metabolic acidosis
Methylmalonic acidemia
Missense mutation