-
1دورية أكاديمية
المؤلفون: Rodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, Matthew J. Schultz, Suzanne W. Boyer, Eva Morava, Maria Laura Duque Lasio, Dorothy K. Grange
المصدر: JIMD Reports, Vol 64, Iss 6, Pp 424-433 (2023)
مصطلحات موضوعية: congenital disorder of glycosylation, diarrhea, glycophosphatidylinositol, hyperphosphatasia, hypoglycemia, Mabry syndrome, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
-
2دورية أكاديمية
المؤلفون: Nathaniel Jensen, Scott Saunders, Tsutomu Ogata, Ryan Longman, Masayo Kagami, Maria Laura Duque Lasio, Marwan Shinawi
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101283- (2024)
وصف الملف: electronic resource
-
3
المؤلفون: Mildred K. Cho, Maria Laura Duque Lasio, Ina Amarillo, Kevin Todd Mintz, Robin L. Bennett, Kyle B. Brothers
المصدر: Genetics in Medicine. 25:100343
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89d8a7a23cbc85823501ed29370fbefd
https://doi.org/10.1016/j.gim.2022.11.011 -
4
المصدر: Molecular Genetics and Metabolism. 138:107407
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
-
5
المؤلفون: Joanne Kurtzberg, Vinod K. Prasad, Adam J. Guenzel, Coleman T. Turgeon, Joan E. Pellegrino, Gisele Pino, Kimiyo Raymond, Amy L. White, Maria L. Escolar, Rachel Hickey, Devin Oglesbee, Dawn Peck, Piero Rinaldo, Ai Sakonju, Margie A. Ream, Silvia Tortorelli, Joseph J. Orsini, Natalie M. Shallow, April Studinski, Michael H. Gelb, Dimitar Gavrilov, Kim K. Nickander, Maria Laura Duque Lasio, Dietrich Matern
المصدر: Genetics in Medicine. 22:1108-1118
مصطلحات موضوعية: 0301 basic medicine, Newborn screening, business.industry, Galactocerebrosidase, Infant, Newborn, Psychosine, Disease, 030105 genetics & heredity, medicine.disease, Leukodystrophy, Globoid Cell, Dried blood spot, 03 medical and health sciences, Neonatal Screening, 030104 developmental biology, Pseudodeficiency alleles, Immunology, Krabbe disease, Humans, Medicine, Biomarker (medicine), Dried Blood Spot Testing, business, Genetics (clinical), Galactosylceramidase
-
6
المؤلفون: Maria Laura Duque Lasio, Dorothy K. Grange, Sakil Kulkarni, Mai He, Janis Stoll, Brooj Abro
المصدر: Pediatric and Developmental Pathology. 23:235-239
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Cilium, Centrilobular necrosis, Hypertrophic cardiomyopathy, Cardiomyopathy, General Medicine, 030105 genetics & heredity, medicine.disease, Compound heterozygosity, Pathology and Forensic Medicine, 03 medical and health sciences, 030104 developmental biology, Cholestasis, Pediatrics, Perinatology and Child Health, medicine, business, Sterile alpha motif, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4f37f324e47cf64d26d9c393ca679f5a
https://doi.org/10.1177/1093526619881541 -
7
المؤلفون: Sakil, Kulkarni, Brooj, Abro, Maria Laura, Duque Lasio, Janis, Stoll, Dorothy K, Grange, Mai, He
المصدر: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 23(3)
مصطلحات موضوعية: Mutation, Infant, Newborn, Humans, Nuclear Proteins, Abnormalities, Multiple, Female, Kidney Diseases, Cystic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7376261b04089d053202db29cc46e325
https://pubmed.ncbi.nlm.nih.gov/31635528 -
8
المؤلفون: Beth A. Kozel, Maria Laura Duque Lasio
المصدر: Matrix Biol
مصطلحات موضوعية: 0301 basic medicine, Williams Syndrome, Pathology, medicine.medical_specialty, Williams-beuren syndrome, Gene Dosage, Disease, medicine.disease_cause, Gene dosage, Article, Cutis Laxa, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, Molecular Biology, Protein function, Mutation, biology, business.industry, medicine.disease, Elastin, Aortic Stenosis, Supravalvular, 030104 developmental biology, biology.protein, cardiovascular system, Williams syndrome, business, Cutis laxa
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e280b58f1d3df5254d128f678fc72b09
https://europepmc.org/articles/PMC8409172/