المؤلفون: Irfan Ali, Kimberly M. Houck, Krystal Sully

المصدر: Journal of Pediatric Epilepsy. 12:041-049

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1e8b4d13068b72c53063e1ce110c7cefTest
https://doi.org/10.1055/s-0042-1760293Test

المؤلفون: Christina Y. Miyake, Erica J. Lay, Claudia Soler-Alfonso, Kevin E. Glinton, Kimberly M. Houck, Mustafa Tosur, Nancy E. Moran, Sara B. Stephens, Fernando Scaglia, Taylor S. Howard, Jeffrey J. Kim, Tam Dam Pham, Santiago O. Valdes, Na Li, Chaya N. Murali, Lilei Zhang, Maina Kava, Deane Yim, Cheyenne Beach, Gregory Webster, Leonardo Liberman, Christopher M. Janson, Prince J. Kannankeril, Samantha Baxter, Moriel Singer-Berk, Jordan Wood, Samuel J. Mackenzie, Michael Sacher, Lina Ghaloul-Gonzalez, Claudia Pedroza, Shaine A. Morris, Saad A. Ehsan, Mahshid S. Azamian, Seema R. Lalani

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics.

مصطلحات موضوعية: Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d345a9d911a39f54eda35b4a1e4e61fTest
https://pubmed.ncbi.nlm.nih.gov/36473599Test

المؤلفون: Christina Y. Miyake, Erica J. Lay, Cheyenne M. Beach, Scott R. Ceresnak, Caridad M. Delauz, Taylor S. Howard, Christopher M. Janson, Kate Jardine, Prince J. Kannankeril, Maina Kava, Jeffrey J. Kim, Leonardo Liberman, Scott L. Macicek, Tam Dam Pham, Terry Robertson, Santiago O. Valdes, Gregory Webster, Sara B. Stephens, Diana M. Milewicz, Mahshid Azamian, Saad A. Ehsan, Kimberly M. Houck, Claudia Soler-Alfonso, Kevin E. Glinton, Mustafa Tosur, Na Li, Weiyi Xu, Seema R. Lalani, Lilei Zhang

المصدر: Heart rhythm. 19(10)

مصطلحات موضوعية: Verapamil, Physiology (medical), Isoproterenol, Tachycardia, Ventricular, Humans, Arrhythmias, Cardiac, Magnesium, Cardiology and Cardiovascular Medicine, Cardiomyopathies, Child, Anti-Arrhythmia Agents, Heart Arrest

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::599999cac1c27695c3e7bb7fb63281e0Test
https://pubmed.ncbi.nlm.nih.gov/35640786Test

المؤلفون: Hudson H. Freeze, Deborah A. Nickerson, Pengfei Liu, Eva Morava, Lynne A. Wolfe, Raymond Y. Wang, Dorcas Wilson, Sergey A. Shiryaev, Yin Y Dong, Janice Cousin, Michael A. Ciliberto, C. G. Asteggiano, Gabriela Magali Papazoglu, Katherine Hammond, Alice Zalan, Timothy Blake Palculict, Kimberly M Houck, Jennefer N. Kohler, Richard Webster, Ingrid E. Scheffer, William D. Graf, John Christodoulou, Bobby G. Ng, Wendy K. Chung, Colleen E. McCormack, Austin Larson, Rossana Sanchez Russo, Fiona Gardiner, Jonathan A. Bernstein, Beth A. Pletcher, Farouq Thabet, Rhonda E. Schnur, Leah J. Rowe, Yue Si, María Mercedes Villanueva, Eileen Barr, Natalie Hauser, Erik A. Eklund, Alvaro H Serrano Russi, Rebecca Miller, Stephanie Grunewald, Andrea Schenone, Allysa Tuite, Suman Ghosh, Jill A. Rosenfeld, Mary-Alice Abbott, Sujana Madathil, Lindsay Rhodes, Shabeed Chelakkadan, Michael J. Bamshad, Naomi Meeks, George E. Hoganson, Kristin G. Monaghan

المصدر: J Inherit Metab Dis
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Glycosylation, medicine.medical_treatment, Biology, N-Acetylglucosaminyltransferases, Article, purl.org/becyt/ford/1 [https], chemistry.chemical_compound, Congenital Disorders of Glycosylation, N-linked glycosylation, N-LINKED GLYCOSYLATION, Genetics, medicine, Humans, CONGENITAL DISORDERS OF GLYCOSYLATION, purl.org/becyt/ford/1.6 [https], EPILEPSY, Genetics (clinical), Exome sequencing, Transferrin, Infant, medicine.disease, WHOLE EXOME SEQUENCING, Epileptic spasms, Uridine diphosphate, chemistry, Child, Preschool, Mutation, Medical genetics, Female, Diet, Ketogenic, Spasms, Infantile, Congenital disorder of glycosylation, Biomarkers, Ketogenic diet

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42986284a8c479aae9968eb318dd9d3Test
https://doi.org/10.1002/jimd.12290Test

المؤلفون: Brittnie Bartlett, Brandon Tran, Daniel G. Calame, Kimberly M Houck, Latanya Agurs, Isabella Herman

المصدر: Neuropediatrics. 52:415-416

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Apnea, business.industry, General Medicine, medicine.disease, Achondroplasia, Seizures, Pediatrics, Perinatology and Child Health, Humans, Medicine, Neurology (clinical), Child, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6d64c71e628d2a3c7bb6fee30e02281Test
https://doi.org/10.1055/s-0041-1722879Test

المؤلفون: Mered Parnes, Lisa Emrick, Daniel G. Calame, Kimberly M Houck, Timothy Lotze

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 31

مصطلحات موضوعية: Male, Movement disorders, Population, Migraine with Aura, Hemiplegia, Bioinformatics, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, ATP1A2, 030225 pediatrics, ATP1A3, medicine, Humans, education, Familial hemiplegic migraine, education.field_of_study, business.industry, Alternating hemiplegia of childhood, Infant, Chorea, General Medicine, medicine.disease, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Neurology (clinical), medicine.symptom, Sodium-Potassium-Exchanging ATPase, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97ebac0494f9c7fac44e16970da54beaTest
https://pubmed.ncbi.nlm.nih.gov/33578253Test

المؤلفون: Eyal Muscal, Natalie C. Pon, Kimberly M Houck, Sindhu A Idicula

المصدر: Journal of psychiatric practice. 23(6)

مصطلحات موضوعية: 0301 basic medicine, Psychosis, Movement disorders, Adolescent, Catatonia, Encephalopathy, Disease, 03 medical and health sciences, 0302 clinical medicine, Autoimmune Diseases of the Nervous System, Seizures, medicine, Humans, Glucocorticoids, Autoantibodies, Autoimmune encephalitis, Psychotropic Drugs, biology, business.industry, medicine.disease, Patient Care Management, 030104 developmental biology, Treatment Outcome, Autonomic Nervous System Diseases, Psychotic Disorders, Potassium Channels, Voltage-Gated, Immunology, biology.protein, Encephalitis, Female, Immunotherapy, Antibody, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6252ff5657cdbbcb159b6f7a63105fadTest
https://pubmed.ncbi.nlm.nih.gov/29303953Test

المؤلفون: Kimberly M. Houck, Hsiao-Tuan Chao, Timothy Lotze

المصدر: Pediatric Demyelinating Diseases of the Central Nervous System and Their Mimics ISBN: 9783319614052

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Upper motor neuron, business.industry, Encephalomyelitis, Central nervous system, medicine.disease, Spinal cord, Myelopathy, Acute Transverse Myelitis, medicine.anatomical_structure, Acute disseminated encephalomyelitis, medicine, Demyelinating Disorder, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fdc60267ac533dd033a4784bec1ad5dfTest
https://doi.org/10.1007/978-3-319-61407-6_27Test