المؤلفون: Margaret Fink, Carsten G. Bönnemann, Gina Norato, Diana Bharucha-Goebel, Sandra Donkervoort, A. Reghan Foley, G. Averion, Victoria Biancavilla, Sarah Debs, Dimah Saade, Eduardo Paredes, Ying Hu, Minal S. Jain, Rupleen Kaur, Wadih M. Zein, Diane Armao, M. Waite, Steven J. Gray, Tanya J. Lehky

المصدر: Brain

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Cross-sectional study, Disease, Cohort Studies, Young Adult, medicine, Humans, Child, Giant axonal neuropathy, Clinical pathology, business.industry, Gigaxonin, Original Articles, medicine.disease, Natural history, Cross-Sectional Studies, Giant Axonal Neuropathy, Child, Preschool, Cohort, Female, Neurology (clinical), business, Natural history study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd1db4ed000f65c170b9dd66f4963050
https://doi.org/10.1093/brain/awab179

المؤلفون: Carlos Ferreira, William A. Gahl, Kelly A. King, Ariane Soldatos, Ellen Macnamara, Tanya J. Lehky, Monique C King, Sarah Debs, Edward W. Cowen, H. Jeffrey Kim, Melissa A. Merideth, Catherine Groden, C.M. Owen, Laura H Brown, Camilo Toro

المصدر: Am J Med Genet A

مصطلحات موضوعية: Adult, 0301 basic medicine, Limb Deformities, Congenital, 030105 genetics & heredity, Bioinformatics, Compound heterozygosity, Article, Congenital Abnormalities, Serine, 03 medical and health sciences, Seizures, Exome Sequencing, Genetics, medicine, Humans, Transaminases, Genetics (clinical), Exome sequencing, Muscle contracture, Sphingolipids, Fetal Growth Retardation, Ichthyosis, business.industry, Neurodegeneration, medicine.disease, Phenotype, Sphingolipid, 030104 developmental biology, Child, Preschool, Microcephaly, Female, Psychomotor Disorders, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf7591401b4da54ffe9df3c5372a350
https://doi.org/10.1002/ajmg.a.62245

المؤلفون: Cheryl Yu, Sarah Debs, Rhea Singh, Sean Kastetter, Akilah Pierre-Louis, Daniel H. Coelho

المصدر: Cochlear implants international. 23(6)

مصطلحات موضوعية: Radiography, Speech and Hearing, Cochlear Implants, Otorhinolaryngology, X-Rays, Humans, Cochlear Implantation, Cochlea, Electrodes, Implanted

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8e7f96b83f421b8599c19cf40ba571d
https://pubmed.ncbi.nlm.nih.gov/36005270

المؤلفون: Afreen A Siddiqui, Alyssa Reese, Sarah Debs, Michele M Carr

المصدر: Cureus. 14(3)

مصطلحات موضوعية: General Engineering

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76596a1162cc441129f53ea5a4f428b0
https://pubmed.ncbi.nlm.nih.gov/35449625

المؤلفون: Rajanya S. Petersson, Leroy R. Thacker, Aasif A. Kazi, Dustin Bastaich, Sarah Debs

المصدر: International journal of pediatric otorhinolaryngology. 151

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Subglottic stenosis, Psychological intervention, Constriction, Pathologic, medicine, Intubation, Humans, Child, Retrospective Studies, business.industry, Gestational age, Infant, Retrospective cohort study, Laryngostenosis, General Medicine, medicine.disease, Prognosis, Stenosis, Treatment Outcome, Otorhinolaryngology, Bronchopulmonary dysplasia, Pediatrics, Perinatology and Child Health, Female, business, Airway

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::587b8f30442be10455ad4b7407c199b6
https://pubmed.ncbi.nlm.nih.gov/34601292