المؤلفون: Kontaridis, Maria I, Roberts, Amy E, Schill, Lisa, Schoyer, Lisa, Stronach, Beth, Andelfinger, Gregor, Aoki, Yoko, Axelrad, Marni E, Bakker, Annette, Bennett, Anton M, Broniscer, Alberto, Castel, Pau, Chang, Caitlin A, Cyganek, Lukas, Das, Tirtha K, Hertog, Jeroen, Galperin, Emilia, Garg, Shruti, Gelb, Bruce D, Gordon, Kristiana, Green, Tamar, Gripp, Karen W, Itkin, Maxim, Kiuru, Maija, Korf, Bruce R, Livingstone, Jeff R, López‐Juárez, Alejandro, Magoulas, Pilar L, Mansour, Sahar, Milner, Theresa, Parker, Elisabeth, Pierpont, Elizabeth I, Plouffe, Kevin, Rauen, Katherine A, Shankar, Suma P, Smith, Shane B, Stevenson, David A, Tartaglia, Marco, Van, Richard, Wagner, Morgan E, Ware, Stephanie M, Zenker, Martin

المصدر: American Journal of Medical Genetics Part A. 188(6)

مصطلحات موضوعية: Pediatric, Genetics, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Costello Syndrome, Humans, Mitogen-Activated Protein Kinases, Noonan Syndrome, Signal Transduction, ras Proteins, cardiofaciocutaneus syndrome, Costello syndrome, neurofibromatosis, Noonan syndrome, RASopathy, signaling, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/44s997fh

المؤلفون: Ladha, Farah A., Le Mons, Cynthia, Craigen, William J., Magoulas, Pilar L., Marom, Ronit, Lewis, Andrea M.

المصدر: In Molecular Genetics and Metabolism July 2023 139(3)

المؤلفون: Magoulas, Pilar L.

المصدر: In The Pediatric Clinics of North America

المؤلفون: Peng, Yanyan, Shinde, Deepali N, Valencia, C Alexander, Mo, Jun-Song, Rosenfeld, Jill, Cho, Megan Truitt, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng, Brockhage, Rachel, Basinger, Alice, Alvarez-Leon, Brenda, Heydemann, Peter, Magoulas, Pilar L, Lewis, Andrea M, Scaglia, Fernando, Gril, Solange, Chong, Shuk Ching, Bower, Matthew, Monaghan, Kristin G, Willaert, Rebecca, Plona, Maria-Renee, Dineen, Rich, Milan, Francisca, Hoganson, George, Powis, Zoe, Helbig, Katherine L, Keller-Ramey, Jennifer, Harris, Belinda, Anderson, Laura C, Green, Torrian, Rizzo, Stacey J Sukoff, Kaylor, Julie, Chen, Jiani, Guan, Min-Xin, Sellars, Elizabeth, Sparagana, Steven P, Gibson, James B, Reinholdt, Laura G, Tang, Sha, Huang, Taosheng

المصدر: Human Molecular Genetics. 26(24)

مصطلحات موضوعية: Neurosciences, Eye Disease and Disorders of Vision, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Alleles, Animals, Child, Child, Preschool, Electron Transport, Female, Ferredoxins, Humans, Infant, Iron, Iron-Sulfur Proteins, Male, Mice, Mitochondria, Mitochondrial Membranes, Mutagenesis, Mutation, Optic Atrophy, Oxidoreductases, Pedigree, Sulfite Reductase (Ferredoxin), Exome Sequencing, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1pd479ht

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المؤلفون: Pierpont, Mary Ella M, Magoulas, Pilar L, Adi, Saleh, Kavamura, Maria Ines, Neri, Giovanni, Noonan, Jacqueline, Pierpont, Elizabeth I, Reinker, Kent, Roberts, Amy E, Shankar, Suma, Sullivan, Joseph, Wolford, Melinda, Conger, Brenda, Santa Cruz, Molly, Rauen, Katherine A

المصدر: Pediatrics. 134(4)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Pediatric, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Clinical Research, Congenital Structural Anomalies, 7.3 Management and decision making, Management of diseases and conditions, Congenital, Diagnosis, Differential, Disease Management, Ectodermal Dysplasia, Facies, Failure to Thrive, Genetic Testing, Heart Defects, Congenital, Humans, Practice Guidelines as Topic, cardio-facio-cutaneous syndrome, BRAF mutation, management guidelines, MEK1 mutation, MEK2 mutation, RASopathy, Medical and Health Sciences, Psychology and Cognitive Sciences, Pediatrics, Biomedical and clinical sciences, Health sciences, Psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/47d3z8qz

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المؤلفون: Mei, Hui^Aff2, Dai, Hongzheng^Aff2, Zhang, Jinglan^Aff2, Wong, Lee-Jun^Aff2, Magoulas, Pilar L.^{Aff2, Aff3}

المساهمون: Wong, Lee-Jun C., editor^Aff1

المصدر: Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders. :155-176

Degree: PhD

المؤلفون: Varghese, Nidhy P., Padhye, Akhilesh A., Magoulas, Pilar L., Mallory, George B., Ruiz, Fadel E., Sahay, Sandeep

المصدر: Pulmonary Circulation; Jul2023, Vol. 13 Issue 3, p1-7, 7p

مصطلحات موضوعية: PULMONARY arterial hypertension, MEDICAL screening, GENETIC testing, PULMONARY artery diseases, GENETIC disorder diagnosis, PULMONARY hypertension

المؤلفون: Arjunan, Aishwarya, Bellerose, Holly, Johansen Taber, Katherine, Torres, Raul, Hoffman, Jodi D., Angle, Brad, Slotnik, Robert Nathan, Simpson, Brittany N., Lewis, Andrea M., Magoulas, Pilar L., Bontempo, Kelly, Schulze, Jeanine, Tarpinian, Jennifer, Bucher, Jessica A., Dineen, Richard, Goetsch, Allison, Lazarin, Gabriel

مصطلحات موضوعية: macromolecular substances

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______9409::18426e3fabdbc18c0008742a00fc518b