المؤلفون: Dowling, James J, Müller-Felber, Wolfgang, Smith, Barbara K, Bönnemann, Carsten G, Kuntz, Nancy L, Muntoni, Francesco, Servais, Laurent, Alfano, Lindsay N, Beggs, Alan H, Bilder, Deborah A, Blaschek, Astrid, Duong, Tina, Graham, Robert J, Jain, Minal, Lawlor, Michael W, Lee, Jun, Coats, Julie, Lilien, Charlotte, Lowes, Linda P, MacBean, Victoria, Neuhaus, Sarah, Noursalehi, Mojtaba, Pitts, Teresa, Finlay, Caroline, Christensen, Sarah, Rafferty, Gerrard, Seferian, Andreea M, Tsuchiya, Etsuko, James, Emma S, Miller, Weston, Sepulveda, Bryan, Vila, Maria Candida, Prasad, Suyash, Rico, Salvador, Shieh, Perry B, INCEPTUS investigators

المصدر: Journal of Neuromuscular Diseases, 9 (4), 503-516 (2022)

مصطلحات موضوعية: X-linked myotubular myopathy, centronuclear myopathy, mechanical, motor disorders, neuromuscular diseases, respiratory failure, ventilators, Child, Preschool, Genetic Therapy, Humans, Longitudinal Studies, Male, Prospective Studies, Myopathies, Structural, Congenital/genetics, Myopathies, Structural, Congenital/therapy, Quality of Life, Myopathies, Structural, Congenital, Neurology, Neurology (clinical), Human health sciences, Pediatrics, Sciences de la santé humaine, Neurologie, Pédiatrie

Relation: https://content.iospress.com/download?id=10.3233/JND-210781; urn:issn:2214-3599; urn:issn:2214-3602

URL الوصول: https://orbi.uliege.be/handle/2268/295915

المؤلفون: Hall, T L, Magdesian, K G, Kittleson, M D

المصدر: Journal of veterinary internal medicine. 24(1)

مصطلحات موضوعية: Animals, Animals, Newborn, Female, Genetic Predisposition to Disease, Heart Defects, Congenital: genetics, pathology, veterinary, Horse Diseases: congenital, genetics, Horses, Male, Myocardium: pathology, Retrospective Studies

URL الوصول: https://escholarship.org/uc/item/7rh3t148

المساهمون: Buckingham, Margaret E., editor., Mummery, C. L. (Christine L.), 1953- editor., Chien, Kenneth R., editor.

مصطلحات موضوعية: Heart Defects, Congenital -- embryology., Heart Defects, Congenital -- genetics., Genetic Predisposition to Disease., Regenerative Medicine -- methods., Congenital heart disease., Heart -- Abnormalities., Heart -- Diseases -- Genetic aspects.

المساهمون: Kearns-Jonker, Mary.

مصطلحات موضوعية: Congenital heart disease -- Molecular diagnosis., Congenital heart disease -- Genetic aspects., Heart -- Diseases -- Molecular diagnosis., Heart -- Diseases -- Genetic aspects., Molecular diagnosis., Heart Defects, Congenital -- diagnosis., Diagnostic Techniques, Cardiovascular., Heart Defects, Congenital -- genetics., Molecular Biology -- methods.

المؤلفون: Thilén, Ulf, Nordenskjöld, Agneta, Nordenskjöld, Magnus

المصدر: Läkartidningen. 107(42):2567-2571

مصطلحات موضوعية: Congenital: mortality, Heart Defects, Esophageal Atresia: therapy, Esophageal Atresia: mortality, Congenital Abnormalities: therapy, Congenital Abnormalities: mortality, Congenital Abnormalities: genetics, Anal Canal: abnormalities, Congenital: genetics, Adrenal Hyperplasia, Congenital: therapy, Sweden: epidemiology, Virilism: genetics, Virilism: psychology, Medicin och hälsovetenskap, Klinisk medicin, Kardiologi, Medical and Health Sciences, Clinical Medicine, Cardiac and Cardiovascular Systems

وصف الملف: electronic

URL الوصول: https://lup.lub.lu.se/record/1756632
https://portal.research.lu.se/files/5248244/1764002.pdf
http://www.ncbi.nlm.nih.gov/pubmed/21137551?dopt=Abstract

المساهمون: Artman, Michael, 1952-, Wiley InterScience (Online service)

مصطلحات موضوعية: Heart -- Abnormalities., Heart -- Growth., Cardiovascular Abnormalities -- genetics., Heart Defects, Congenital -- genetics.

المؤلفون: Ng, Matthew^Aff05431, Horlbeck, Drew M.^Aff05432

المساهمون: Kountakis, Stilianos E., editor^Aff1

المصدر: Encyclopedia of Otolaryngology, Head and Neck Surgery. :2399-2407

Degree: M.D., FACS
M.D.

المساهمون: Mogil, Jeffrey Steven, 1966-, International Association for the Study of Pain.

مصطلحات موضوعية: Pain Management., Pain -- Genetic aspects., Pain perception., Pain -- genetics., Pain Insensitivity, Congenital -- genetics., Aufsatzsammlung.

المؤلفون: Giwercman, Yvonne, Nordenskjöld, Agneta, Ritzén, E Martin, Nilsson, Karl-Olof, Ivarsson, Sten, Grandell, Ulla, Wedell, Anna

المصدر: Journal of Clinical Endocrinology and Metabolism. 87(6):2623-2628

مصطلحات موضوعية: Congenital: genetics, Androgen-Insensitivity Syndrome: genetics, Preschool, Child, Female, Human, Non-U.S. Gov't, Support, Androgen: metabolism, Receptors, Androgen: genetics, Mutation, Pedigree, Adult, Adrenal Hyperplasia, Congenital: etiology, Inborn Errors: complications, Metabolism, Male, Medicin och hälsovetenskap, Klinisk medicin, Pediatrik, Medical and Health Sciences, Clinical Medicine, Pediatrics, Reproduktionsmedicin och gynekologi, Obstetrics, Gynecology and Reproductive Medicine, Endokrinologi och diabetes, Endocrinology and Diabetes

URL الوصول: https://lup.lub.lu.se/record/115257
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12050225&dopt=Abstract
http://jcem.endojournals.org/cgi/content/full/87/6/2623

المؤلفون: Karen W. Gripp, Ingrid M. Wentzensen, Julie D. Kaplan, Lindsay B. Henderson, Germaine Pierre, Maggie Williams, Anne McRae, Kerstin Kutsche, Jean-Marc Good, Julia Baptista, Marleen Simon, Anirban Majumdar, Mary Beth Dinulos, Andrea Superti-Furga, Ellen van Binsbergen, Lisette Leeuwen, Ingrid Scurr, Sarah F. Smithson, Heather M. McLaughlin

المصدر: European Journal of Human Genetics, 29, 1384-1395. Nature Publishing Group
European journal of human genetics, vol. 29, no. 9, pp. 1384-1395
European Journal of Human Genetics

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Hypertrichosis, Potassium Channels, Adolescent, Small-Conductance Calcium-Activated Potassium Channels, Nails, Malformed, Biology, Article, Craniofacial Abnormalities, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Genetics research, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Child, Gene, Genetics (clinical), Fibromatosis, Gingival, Abnormalities, Multiple/genetics, Abnormalities, Multiple/pathology, Channelopathies/genetics, Channelopathies/pathology, Craniofacial Abnormalities/genetics, Craniofacial Abnormalities/pathology, Ether-A-Go-Go Potassium Channels/genetics, Female, Fibromatosis, Gingival/genetics, Fibromatosis, Gingival/pathology, Gain of Function Mutation, Hallux/abnormalities, Hallux/pathology, Hand Deformities, Congenital/genetics, Hand Deformities, Congenital/pathology, Intellectual Disability/genetics, Intellectual Disability/pathology, Nails, Malformed/genetics, Nails, Malformed/pathology, Phenotype, Potassium Channels/genetics, Small-Conductance Calcium-Activated Potassium Channels/genetics, Thumb/abnormalities, Thumb/pathology, Coarse facial features, medicine.disease, Ether-A-Go-Go Potassium Channels, Paediatric neurological disorders, 030104 developmental biology, Thumb, KCNK4, Hallux, Channelopathies, Hand Deformities, Congenital, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::918739748f0fdc6bed9c9af583939241
https://doi.org/10.1038/s41431-021-00818-9