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: Allison Kirchner, Isabelle M. Sanchez, Alice Zalan, Gifty Bhat, Michelle Bain

المصدر: Pediatric dermatologyREFERENCES. 39(3)

مصطلحات موضوعية: Diarrhea, Male, Eczema, Forkhead Transcription Factors, Genetic Diseases, X-Linked, Dermatology, Syndrome, Intestinal Diseases, Diabetes Mellitus, Type 1, Immune System Diseases, Molecular Diagnostic Techniques, Pediatrics, Perinatology and Child Health, Mutation, Humans, Polyendocrinopathies, Autoimmune

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d33195c2303be6cf5e2ed98851547bcTest
https://pubmed.ncbi.nlm.nih.gov/35191551Test

المؤلفون: Gifty Bhat, Saba Ahmad, Luis Manon, Alice Zalan, Jerry Machado, Nikolas Mata-Machado, Steven Garzon, Akira Yoshii

المصدر: Human Genome Variation
Human Genome Variation, Vol 7, Iss 1, Pp 1-4 (2020)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Genetics of the nervous system, lcsh:QH426-470, Cellular differentiation, lcsh:Life, Biochemistry, Frameshift mutation, 03 medical and health sciences, Tuberous sclerosis, 0302 clinical medicine, Genetics research, Genetics, medicine, Data Report, Molecular Biology, neoplasms, business.industry, Autosomal dominant trait, medicine.disease, Pathophysiology, nervous system diseases, Paediatric neurological disorders, lcsh:Genetics, lcsh:QH501-531, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Teratoma, TSC1, Sacrococcygeal teratoma, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bcf6d93997a7dd8a6c7c866dee33c26Test
http://europepmc.org/articles/PMC7677537Test

المؤلفون: Natasha Pillay Smiley, Melody Perpich, Alice Zalan, Shelly Weiss McQuaid, Tara Maga

المصدر: Journal of genetic counselingREFERENCES. 30(2)

مصطلحات موضوعية: Parents, medicine.medical_specialty, Genetic counseling, Population, Survivorship, Grounded theory, 03 medical and health sciences, 0302 clinical medicine, Survivorship curve, medicine, Humans, Relevance (information retrieval), Family history, education, Child, Genetics (clinical), Genetic testing, 0303 health sciences, education.field_of_study, medicine.diagnostic_test, Brain Neoplasms, Genetic Services, 030305 genetics & heredity, Attitude, 030220 oncology & carcinogenesis, Family medicine, Risk assessment, Psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b329dc47fa76eba92773db97769fc95Test
https://pubmed.ncbi.nlm.nih.gov/33073438Test