المؤلفون: Andreas R. Janecke, Lukas A. Huber, Roberto Adachi, Valeria Strauß, Anuradha Ganesh, Siham Al Sinani, Martha P. Schatz, Roger Janz, Badr AlSaleem, Martin Walter Laass, Majid Alfadhel, Sumanth Punuru, Elizabeth Sanchez, Xiaoqin Liu, Naveen Mittal, Fowzan S. Alkuraya, Ujwala S. Saboo, Rüdiger Adam, Sana Al Zuhaibi, Klaus Rohrschneider, Fathiya Al Murshedi, Thomas Müller, Ruth Heidelberger, Johanna C. Escher, Arne Viestenz

المساهمون: Pediatrics

المصدر: Human Genetics, 140(8), 1143-1156. Springer-Verlag
Human Genetics

مصطلحات موضوعية: chemistry.chemical_compound, Mice, 0302 clinical medicine, Mucolipidoses, Enteropathy, Intestinal Mucosa, Genetics (clinical), Exome sequencing, Original Investigation, Genetics, Aged, 80 and over, Mice, Knockout, 0303 health sciences, Microvilli, Qa-SNARE Proteins, Homozygote, Eye Diseases, Hereditary, Disease gene identification, Phenotype, medicine.anatomical_structure, Knockout mouse, Retinal Cone Photoreceptor Cells, Female, Autopsy, Co-Repressor Proteins, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Malabsorption Syndromes, SDG 3 - Good Health and Well-being, Retinal Dystrophies, Exome Sequencing, medicine, Animals, Humans, Sensory Rhodopsins, RNA, Messenger, Outer nuclear layer, 030304 developmental biology, Aged, Retinal, medicine.disease, Human genetics, Alcohol Oxidoreductases, chemistry, Gene Expression Regulation, sense organs, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61dc5a4535447fa78f5680c9aee003e4
http://www.scopus.com/inward/record.url?scp=85105860540&partnerID=8YFLogxK

المؤلفون: Homer Chiang, Martha P. Schatz, Ujwala S. Saboo

المصدر: Symptom-Based Approach to Pediatric Neurology ISBN: 9783031104930

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a447f316282345ccdb0d47bab52fc652
https://doi.org/10.1007/978-3-031-10494-7_15

المؤلفون: Andrew R. Harrison, Judith Oakley, William Hall, Madhura A. Tamhankar, Kristi Cumming, Maureen Flanagan, Barbara Barrett, Allison Jensen, Lanning B. Kline, Yanina O'Neil, Sophia M. Chung, Laura D. Cook, Katy Tai, Kimberley Wegner, Lourdes Fagan, Margaret Padilla, Caryl Tongco, Vivian Rismondo-Stankovich, Rachel A Hollar, Maureen G. Maguire, Michael S. Lee, Roger E. Turbin, Larry Preston, Jeff Boring, Mays A. El-Dairi, Roy McDonald, Lynn Bannon, Rosa A. Tang, Susan Ward, Ann Stoutenburg, Robert Honkanen, Kimberly Du Page, Sheree Newland, Gregory P. Van Stavern, Cynthia I. Guede, M. Michaele Hartnett, H. Logan Brooks, Patrick A. Sibony, Valerie Davis, Carlos Filipe Chicani, Karen Tobias, Lauren B. Krupp, Sanjay Kedhar, Karen Civitelli, Donna H. Kim, Karen Helles, Kathryn Boschert, Reid Longmuir, Flora Levin, Martin ten Hove, Y. Trigo, Karen Capaccioli, Marianne Medura, Mary Kemp, C. Callahan, Laura J. Frishman, J. Paul Dickinson, Sheri Drossner, Betty Kovacs, Hua He, Erika Perez, Xavier Pi-Sunyer, Adriana Breen, Byron L. Lam, Cristi Bryant, Danielle S Rudich, Yu Fei Tu, Richard A. Mills, Trisha Mary Chiasson, Rachelle Watts, Judith E. A. Warner, Danielle J Harvey, David I. Kaufman, Mary Mladek, Ellen Arnold, Robert L. Lesser, Sandra Baptista-Pires, Arthur Watts, Nichole McMullen, Lori Cooke, Rajeev S. Ramchandran, Jamie Kambarian, Jeannie Reimer, Vanessa Bergman, Alexis Morante, Rebecca Salvo, Joanne Katz, Noreen McClain, Laura Leming, David M. Katz, Sue Heaton, Mark Chilton, Jim Farmer, Anastas F. Pass, William L. Hills, James J. Corbett, Paul N. Hoffman, Valérie Biousse, Joan DuPont, John E. Carter, John S. Werner, Bonnie Carlstrom, Bradley J. Katz, Prem S. Subramanian, O. Iyore Ayanru, Elizabeth A. M. Windsor, John B. Selhorst, Megan Grosso, Karen Searcey, Pravin Patel, Bobbie Lewis, Liat Gantz, Joshua Pasol, Beau B. Bruce, Syndee Givre, Alex Yang, Bradley K. Farris, Marc R. Criden, Beena Gangadharan, Melissa Rivas, Carlos Bazan, Andrew Pearson, Charles G. Maitland, Sami Khella, Julie Falardeau, Jonathan Lo, William Fisher, Steven A. Newman, Kimberly James, Edward Miretsky, Christine Matera, Andres Sanchez, Tracy Asbury, Robert J. Granadier, Steven E. Katz, Aravinda Rao, John H. Pula, Peter Macdowell, Alan Lyon, R. Michael Siatkowsk, Craig Simms, Richard Weil, Alexandra Martinez, Christine Hannigan, Kim Plumb, Mary Barnett, Dawn M. Govreau, Robert Gerwin, Madiha Siddiqui, Kenneth M. Carnes, Ursula Bator, Rebecca L. Armour, Lori Higginbotham, Deborah I. Friedman, Dorothea Castillo, Jorge C. Kattah, Stephanie A. Morris, Xin Tu, Randy H. Kardon, Maria Cecilia Santiago-Turla, Marisol Ragland, Amanda Ribeiro, Joan Smith, Karen Skrine, Kristina Holbrook, M. Tariq Bhatti, Janet C. Rucker, Jeri Nickerson, Patrick S. O'Connor, Diane Brown, Kamella Zimmerman, Linda Curtis, Tammy Keenan, Jody Fissgus, Sylvia Ramos, Daniel Jacob Mojica, Nathalie Gintowt, Kammerin White, Mike Hanson, Joel Kramer, Paul Comeau, Potyra R. Rosa, Heather Miller, Priscilla Cajavilca, Dean M. Cestari, Michael Wall, Lorena Dominguez, Peter A. Quiros, Deepali Rajguru, Neil R. Miller, Penni Bye, Anne Kao, Marie D. Acierno, Joan Fish, Sarah Brett, Anne Haroldsen, Steven O'Dell, Renee B Van Stavern, Thomas Goddard, Violete Perez, William A. Fletcher, Ruth Tenzler, Joseph Andrezik, Steven Hamilton, Cara Everhart, Michael S. Vaphiades, Jan Bausch, Eugene May, Kenneth S. Shindler, Cynthia S. Mccarthy, Jennifer D. Verriotto, Holly Bacon, Helen Roemhild, John M. McGregor, Elizabeth Ann Moss, Ronda Gorsica, Nancy J. Newman, Mare Perevich, Luis J. Mejico, Victoria Snively, Judy Brower, Bev Olsen, Gina Coman, Jennifer Moore, Matthew J. Thurtell, Sherry Slayman Kellogg, Brian Vatcher, Josyane Dumser, William M. Hart, Neal Snebold, Timothy J. Martin, Kathleen B. Digre, Shan Gao, Jonathan Feistmann, Ann Marie Lavorna, Ilana Katz-Sand, Susan Allman, Radu Constantinescu, Lori A. Stec, Steven E. Feldon, Marcia Grillo, Brian Sherman, Anil D. Patel, Nathan McCarthy, La Toya Greene, Tammy Osentoski, Keisha Fuller, Tim Alperen, Jamie Walski, Chris R. Johnson, J. Banks Shepherd, Trina Eden, Kevin Na, Fiona Costello, Mary Lou Watson, Debbie Hamilton, Sachin Kedar, Judith Beck, Rudrani Banik, Amy Thomassie, Timothy L. Tytle, Jill Miller-Horn, Larry Frohman, Susan Rivera, John T. Lind, Barbara Hart, Debbie Baker, Andrea Inman, Stephanie Engelhard, Tippi Hales, Kari Steinmetz, Joseph F. Rizzo, Nubia Vega, Lupe Cisneros, Martha P. Schatz, Elisabeth Carter, Kimberly Cooley, Anne Holleschau, Mary Rose Buttice, Nicky R. Holdeman, George O'Gara, Burk Jubelt, Zoë R. Williams, Wendy Elasky, Janis Beall, Suresh Subramaniam, John L. Keltner, Melissa W. Ko, Maria Guillermo Prieto

المصدر: The British journal of ophthalmology. 101(9)

مصطلحات موضوعية: Male, Retinal Ganglion Cells, genetic structures, Visual Acuity, 0302 clinical medicine, Nerve Fibers, Cerebrospinal Fluid Pressure, Risk Factors, Photography, Treatment Failure, Carbonic Anhydrase Inhibitors, Pseudotumor Cerebri, Hypertension treatment, Retinal Hemorrhage, Diet, Sodium-Restricted, Middle Aged, Combined Modality Therapy, Sensory Systems, Exact test, medicine.anatomical_structure, Treatment Outcome, Optic nerve, Female, medicine.symptom, Optic disc, Papilledema, Adult, medicine.medical_specialty, Optic Disk, Vision Disorders, 03 medical and health sciences, Cellular and Molecular Neuroscience, Double-Blind Method, 030225 pediatrics, Ophthalmology, Weight Loss, medicine, Humans, Poor correlation, Risk factor, business.industry, eye diseases, Surgery, Cotton wool spots, Acetazolamide, Quality of Life, Visual Field Tests, Cerebrospinal fluid pressure, business, Risk Reduction Behavior, 030217 neurology & neurosurgery, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0174e4ae9c3de8fdeb23283019538bc5
https://pubmed.ncbi.nlm.nih.gov/28130349

المؤلفون: Martha P. Schatz, Robert L. Lesser, Patrick Lavin, Samuel H. Yun

المصدر: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 35(2)

مصطلحات موضوعية: Topiramate, Adult, Male, medicine.medical_specialty, Pediatrics, Evening, Side effect, Exacerbation, Fructose, Medicine, Humans, Palinopsia, business.industry, Bulimia nervosa, Visual symptoms, Middle Aged, medicine.disease, Illusions, Surgery, Ophthalmology, Migraine, Sensation Disorders, Visual Perception, Anticonvulsants, Female, Neurology (clinical), medicine.symptom, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93a4aa799dae0402281d75d2eb410e20
https://pubmed.ncbi.nlm.nih.gov/28492445

المؤلفون: Eric J. Dudenhoefer, Wayne T. Cornblath, Martha P. Schatz

المصدر: Ophthalmology. 105:1875-1878

مصطلحات موضوعية: medicine.medical_specialty, Necrosis, genetic structures, business.industry, Vascular disease, medicine.disease, Dermatology, Surgery, Ophthalmology, Giant cell arteritis, medicine.anatomical_structure, Scalp, medicine, Anterior ischemic optic neuropathy, medicine.symptom, Differential diagnosis, Vasculitis, Complication, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::aca99e226ba4579383e3ef90c832804f
https://doi.org/10.1016/s0161-6420(98)91033-8

المؤلفون: Elizabeth C. Engle, Donald R. Johns, Martha P. Schatz, Alan H. Beggs, John D. Porter, Craig A. McKeown, Boyan C. Goumnerov

المصدر: Annals of Neurology. 41:314-325

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Restrictive external ophthalmoplegia, genetic structures, Biopsy, Amblyopia, Extraocular muscles, Lower motor neuron, Oculomotor Nerve, Congenital fibrosis of the extraocular muscles, Humans, Medicine, Abnormalities, Multiple, Muscle, Skeletal, Aged, Chromosomes, Human, Pair 12, Ophthalmoplegia, business.industry, Oculomotor nerve, Infant, Newborn, Brain, Chromosome Mapping, Eye movement, Anatomy, Levator Palpebrae Superioris, medicine.disease, Fibrosis, eye diseases, Pedigree, Strabismus, medicine.anatomical_structure, Neurology, Oculomotor Muscles, Child, Preschool, Female, sense organs, Neurology (clinical), business, Strabismus surgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85bf471ca98eff108c7434c2a76845e1
https://doi.org/10.1002/ana.410410306

المؤلفون: Daniel E. Hale, Martha P. Schatz, Courtney Sebold, W. Abraham White, Jannine D. Cody

المصدر: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 15(3)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, genetic structures, Adolescent, Ocular Pathology, Young Adult, Tetrasomy 18p, Esophoria, medicine, Humans, Young adult, Strabismus, Child, Comparative Genomic Hybridization, Esotropia, medicine.diagnostic_test, business.industry, Infant, medicine.disease, Aneuploidy, Microarray Analysis, Magnetic Resonance Imaging, eye diseases, Surgery, Ophthalmology, Eye examination, Child, Preschool, Karyotyping, Pediatrics, Perinatology and Child Health, Cohort, Exotropia, Female, sense organs, business, Chromosomes, Human, Pair 18

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff1396176bc0e858dc7e9c526d16f118
https://pubmed.ncbi.nlm.nih.gov/21665505

المؤلفون: Bridgette Soileau, Marsha Zimmerman, Elizabeth Roeder, Annice Hill, W. Abraham White, Minire Hasi, Erika Carter, Courtney Sebold, John Li, Brian Perry, Jack L. Lancaster, Louise O'Donnell, Daniel E. Hale, Martha P. Schatz, Lauren Pankratz, Kent A. Reinker, Jannine D. Cody, Patricia Heard

المصدر: American journal of medical genetics. Part A. (9)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Microcephaly, Genotype, Developmental Disabilities, Isochromosome, Aneuploidy, Biology, Short stature, Tetrasomy 18p, Chromosome 18, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Comparative Genomic Hybridization, Proximal 18q, medicine.disease, Phenotype, Karyotyping, Tetrasomy, Female, medicine.symptom, Chromosomes, Human, Pair 18

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08661498d360b541567ca3244f44c985
https://pubmed.ncbi.nlm.nih.gov/20803640

المؤلفون: Megan E. McChesney, Martha P. Schatz, Craig A. McCluer, Randall S. Collins

المصدر: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 12(6)

مصطلحات موضوعية: Adult, Distance visual acuity, Visual acuity, genetic structures, Visual Acuity, Color, Iris, Cosmetic Techniques, Amblyopia, Pupil, Occlusion, Medicine, Humans, Iris (anatomy), Analysis of Variance, business.industry, Pupil size, Cosmesis, Equipment Design, Contact Lenses, Hydrophilic, eye diseases, Ophthalmology, medicine.anatomical_structure, Treatment Outcome, Occlusion therapy, Pediatrics, Perinatology and Child Health, Optometry, sense organs, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::601145c5eb8bf6aa9a5dc3eb981dc36e
https://pubmed.ncbi.nlm.nih.gov/19393525

المؤلفون: Won I. Kim, Clifton S. Otto, Martha P. Schatz, Beverly R. Scott, Stephen M. Yoest

المساهمون: Won I. Kim, John L. Keltner, MD, Neil R. Miller, MD

المصدر: 2005 North American Neuro-Ophthalmology Society Annual Meeting

مصطلحات موضوعية: Midbrain Infarcts, Midbrain Syndromes, Parinaud's Syndrome

وصف الملف: application/pdf

Relation: Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu; 20050215_nanos_posters_019.pdf; https://collections.lib.utah.edu/ark:/87278/s6dn7bgv

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s6dn7bgv

المؤلفون: John B, Kerrison, David, Lounsbury, Charles E, Thirkill, R Gary, Lane, Martha P, Schatz, Renata M, Engler

المصدر: Ophthalmology. 109(1)

مصطلحات موضوعية: Adult, Male, Optic Neuritis, Acute Disease, Vaccination, Visual Acuity, Brain, Humans, Anthrax Vaccines, Visual Fields, Magnetic Resonance Imaging

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f8747708f502d6653826d5053da55e85
https://pubmed.ncbi.nlm.nih.gov/11772587

المؤلفون: Denise A. Johnson, David EE Holck, Martha P. Schatz

المصدر: 2000 North American Neuro-Ophthalmology Society Annual Meeting

مصطلحات موضوعية: Pseudotumor Cerebri, Papilledema, Bitemporal Visual Field Loss, Intracranial Pressure

وصف الملف: application/pdf

Relation: NANOS 2000: Poster Presentations; Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu; 20000327_nanos_posters_56.pdf; 20000327_nanos_posters_56; https://collections.lib.utah.edu/ark:/87278/s6pz8gc4

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s6pz8gc4

المؤلفون: Courtney Sebold, Jannine D. Cody, Martha P. Schatz, William A. White

المصدر: Journal of American Association for Pediatric Ophthalmology and Strabismus. 14:e30

مصطلحات موضوعية: Ophthalmology, medicine.medical_specialty, Series (stratigraphy), Tetrasomy 18p, business.industry, Pediatrics, Perinatology and Child Health, Medicine, business, medicine.disease, Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a91d4268f4b0399c4db646ed186af328
https://doi.org/10.1016/j.jaapos.2009.12.126

المؤلفون: Randall S. Collins, Martha P. Schatz, Craig A. McCleur, Megan E. McChesney

المصدر: Journal of American Association for Pediatric Ophthalmology and Strabismus. 10:77

مصطلحات موضوعية: Ophthalmology, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, Occlusion, medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::05e3f37bbf2f554026c6264f480e9834
https://doi.org/10.1016/j.jaapos.2006.01.109

المؤلفون: Wayne Tie, Martha P. Schatz, MD

المساهمون: Martha Schatz, MD

المصدر: 2018 North American Neuro-Ophthalmology Society Annual Meeting

مصطلحات موضوعية: Myopathy

وصف الملف: application/pdf

Relation: NANOS Annual Meeting 2018: Frank B. Walsh Session 1; Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu; walsh_2018_s1_c2-2; https://collections.lib.utah.edu/ark:/87278/s61s0tvw

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s61s0tvw

المؤلفون: Wayne Tie, Martha P. Schatz, MD

المساهمون: Martha Schatz, MD

المصدر: 2018 North American Neuro-Ophthalmology Society Annual Meeting

مصطلحات موضوعية: Myopathy

وصف الملف: application/pdf

Relation: NANOS Annual Meeting 2018: Frank B. Walsh Session 1; Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu; walsh_2018_s1_c2-1; https://collections.lib.utah.edu/ark:/87278/s6226xbr

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s6226xbr

المؤلفون: Wayne Tie, Martha P. Schatz, MD

المساهمون: Martha Schatz, MD

المصدر: 2018 North American Neuro-Ophthalmology Society Annual Meeting

مصطلحات موضوعية: Myopathy

وصف الملف: video/mp4

Relation: NANOS Annual Meeting 2018: Frank B. Walsh Session 1; Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu; walsh_2018_s1_c2; https://collections.lib.utah.edu/ark:/87278/s65t7p25

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s65t7p25