المؤلفون: Sirisha Nouduri, Rajiv Padmanabhan, Richard Hicks, Mary-Alice Abbott, Dennis O'Brien, Gottfried Schlaug

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: MELAS, antiphospholipid antibodies, anticardiolipin antibodies, heteroplasmy, MRI, MRS, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1043695/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/c0450d131ae0476b82eda383d7962f45

المؤلفون: Omar Hikmat, Pirjo Isohanni, Nandaki Keshavan, Matteo P. Ferla, Elisa Fassone, Mary‐Alice Abbott, Marcello Bellusci, Niklas Darin, David Dimmock, Daniele Ghezzi, Henry Houlden, Federica Invernizzi, Nazreen B. Kamarus Jaman, Manju A. Kurian, Eva Morava, Karin Naess, Juan Darío Ortigoza‐Escobar, Sumit Parikh, Alessandra Pennisi, Giulia Barcia, Karin B. Tylleskär, Damien Brackman, Saskia B. Wortmann, Jenny C. Taylor, Laurence A. Bindoff, Vineta Fellman, Shamima Rahman

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2155-2165 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/7ea99688d16d4beba2c9f25ff13dc276

المؤلفون: Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: EIF3F gene, Neurodevelopmental disorder, Short stature, Deafness, Behavioral difficulties, Altered muscular tone, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8bc14e835d25412b97b23f80259be0cf

المؤلفون: Jaime E. Hale, Basil T. Darras, Kathryn J. Swoboda, Elicia Estrella, Jin Yun Helen Chen, Mary-Alice Abbott, Beverly N. Hay, Binod Kumar, Anne M. Counihan, Jacalyn Gerstel-Thompson, Inderneel Sahai, Roger B. Eaton, Anne Marie Comeau

المصدر: International Journal of Neonatal Screening, Vol 7, Iss 2, p 26 (2021)

مصطلحات موضوعية: newborn screening, Spinal Muscular Atrophy, SMN1 gene, SMN2 gene, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/7/2/26; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/4dcad59a475a4663b811ae4d4fa431c4

المؤلفون: Marjon van Slegtenhorst, Paul Lasko, Jill R. Murrell, Romy van de Putte, Courtney Manning, Mary-Alice Abbott, Constance T. R. M. Stumpel, Jacqueline Leonard, Iris A.L.M. van Rooij, Servi J. C. Stevens, Han G. Brunner, Alexander Hoischen, Karin E. M. Diderich, Louise C. Pyle, Jorune Balciuniene

المساهمون: MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, MUMC+: DA Klinische Genetica (5), Clinical Genetics

المصدر: Clinical Genetics, 101, 183-189
Clinical Genetics, 101, 2, pp. 183-189
Clinical Genetics, 101(2), 183-189. Wiley
Clinical Genetics, 101(2), 183-189. Wiley-Blackwell Publishing Ltd

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, caudal regression syndrome, Genotype, SACRAL AGENESIS, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology, Sacral Agenesis, persistent cloaca, sirenomelia, Vertebral segmentation defect, homeobox gene, Exome Sequencing, VACTERL, Genetics, medicine, Humans, Abnormalities, Multiple, CDX2 Transcription Factor, Genetic Predisposition to Disease, imperforate anus, Genetic Testing, Child, CDX2, Alleles, Genetic Association Studies, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Caudal regression syndrome, ELONGATION, Sacrococcygeal Region, Infant, Newborn, Infant, medicine.disease, HOX, Phenotype, digestive system diseases, Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10], Sirenomelia, Mutation, embryonic structures, Homeobox, GROWTH, Female, PARAHOX, Imperforate anus

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::377efc2da984ac09bf73ab8baab94197
https://doi.org/10.1111/cge.14076

المؤلفون: Sally S. Rosengren, Mary-Alice Abbott, William J. Diebold

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187:219-223

مصطلحات موضوعية: Rare Diseases, Psychoanalysis, Mucopolysaccharidosis I, Mucopolysaccharidosis, Philosophy, Genetics, medicine, Humans, Syndrome, Hurler syndrome, medicine.disease, Genetics (clinical), Term (time)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::017e99de9249b9eda2781c71fde28b9b
https://doi.org/10.1002/ajmg.c.31903

المؤلفون: Benedikt Schoser, Mary-Alice Abbott, Antonio Toscano, Meredith C. Foster, Magali Periquet, Priya Kishnani

المصدر: Molecular Genetics and Metabolism. 138:107310

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3ae4d0545109e3a4805f118c74c13acc
https://doi.org/10.1016/j.ymgme.2022.107310

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42986284a8c479aae9968eb318dd9d3
https://doi.org/10.1002/jimd.12290

المؤلفون: null Servi J. C. Stevens, null Constance T. R. M. Stumpel, null Karin E. M. Diderich, null Marjon A. Slegtenhorst, null Mary‐Alice Abbott, null Courtney Manning, null Jorune Balciuniene, null Louise C. Pyle, null Jacqueline Leonard, null Jill R. Murrell, null Romy Putte, null Iris A. L. M. Rooij, null Alexander Hoischen, null Paul Lasko, null Han G. Brunner

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::aec1fbfcfc6b6f344a3c8fdc1b09f214
https://doi.org/10.1111/cge.14076/v3/response1

المؤلفون: Phuong L. Nguyen, Sajjad Hassan, Jess F. Peterson, Patricia T. Greipp, Matthew W. Richardson, Rachana Singh, Shubham Bakshi, Lisa Grady, Mary Alice Abbott, John Hunt, Patrick R. Blackburn, Alexander S. Roseman

المصدر: Cancer Genetics. 244:62-64

مصطلحات موضوعية: Cancer Research, Pathology, medicine.medical_specialty, Transmission (mechanics), law, Transient abnormal myelopoiesis, Genetics, medicine, Biology, Trisomy, medicine.disease, Molecular Biology, law.invention

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::93265639db515aef03b420af071ddd70
https://doi.org/10.1016/j.cancergen.2020.04.003