المؤلفون: Annie Niehaus, Shawn Tahata, Tina Cowan, Kristina Cusmano-Ozog

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100040- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423000407; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/377f056cf98945b780d302356f38b4db

المؤلفون: Michael J. Muriello, Sarah Viall, Teodoro Bottiglieri, Kristina Cusmano-Ozog, Carlos R. Ferreira

المصدر: Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 9-12 (2017)

مصطلحات موضوعية: Methionine adenosyltransferase I/III deficiency, Hypermethioninemia, MAT1A, Mudd's disease, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426917300630; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/cb8c9af333a441f0864a3e9547815b5f

المؤلفون: Paul S. Kruszka, Brian Kirmse, Dina J. Zand, Kristina Cusmano-Ozog, Elaine Spector, Johan L. Van Hove, Kimberly A. Chapman

المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 237-240 (2014)

مصطلحات موضوعية: Propionic acidemia, Non-ketotic hyperglycinemia, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426914000354; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/0ab544cf9fd8489aaf92d33a580d5dee

المؤلفون: Gregory M Enns, Tereza Moore, Anthony Le, Kondala Atkuri, Monisha K Shah, Kristina Cusmano-Ozog, Anna-Kaisa Niemi, Tina M Cowan

المصدر: PLoS ONE, Vol 9, Iss 6, p e100001 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4062483?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/7aabf3dc50c04553ab6ccfefee5d05ed

المؤلفون: Charles J. Billington, Kimberly A. Chapman, Eyby Leon, Beatrix W. Meltzer, Seth I. Berger, Matthew Olson, Robert A. Figler, Steve A. Hoang, Cui Wanxing, Brian R. Wamhoff, M. Sol Collado, Kristina Cusmano‐Ozog

المصدر: American Journal of Medical Genetics Part A. 188:2738-2749

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4b66d3c54f69fb3e39a611777e46bfaa
https://doi.org/10.1002/ajmg.a.62893

المؤلفون: Erin T. Strovel, Kristina Cusmano-Ozog, Tim Wood, Chunli Yu

المصدر: Genetics in Medicine. 24:769-783

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9038c5cc1cdc312e3651291a529523c0
https://doi.org/10.1016/j.gim.2021.12.013

المؤلفون: Kerri Bosfield, Jessica Albert, Nancy Cheng, Tiffany Swaringer, Kristina Cusmano-Ozog, Debra S. Regier

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

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::243882b5252eada60d6b092d5ef6bbcf
https://pubmed.ncbi.nlm.nih.gov/36484781

المؤلفون: Gregory M. Enns, Rebecca J. Levy, Maura R.Z. Ruzhnikov, Jose Andres Morales, Brendan J Floyd, Kristina Cusmano-Ozog, Chung Lee, Ariel S Lee, Annette Feigenbaum, Christina G. Tise, Frances Velez-Bartolomei

المصدر: American Journal of Medical Genetics Part A. 185:1848-1853

مصطلحات موضوعية: 0301 basic medicine, Proband, endocrine system, Pediatrics, medicine.medical_specialty, Newborn screening, business.industry, 030105 genetics & heredity, medicine.disease, Clinical trial, 03 medical and health sciences, 030104 developmental biology, X-linked adrenoleukodystrophy, Genetics, Medicine, Aicardi–Goutières syndrome, lipids (amino acids, peptides, and proteins), Adrenoleukodystrophy, Age of onset, Differential diagnosis, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a3e49e482adb9bab0c9d0290e753bd82
https://doi.org/10.1002/ajmg.a.62160

المؤلفون: Katherine A. Bosanko, Jennifer L. Fish, Antonio Martinez-Monseny, Amy M. DiMarino, Yuri A. Zarate, Demitrios Dedousis, Anna L. Mitchell, Mir Reza Bekheirnia, Veronica Seidel, David T. Miller, Lea Velsher, Cynthia J. Curry, Aisling R. Caffrey, Mary Ann Thomas, Tyler Mark Pierson, Meena Balasubramanian, Nicole Fleischer, John M. Graham, Angelika Riess, Kristina Cusmano-Ozog, Ronald V. Lacro

المصدر: CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, facial recognition technology, genotype-phenotype correlation, Hypertension, Pulmonary, Dwarfism, Gestational Age, 030105 genetics & heredity, Growth development, 03 medical and health sciences, Facial dysmorphism, Neurodevelopmental disorder, Thinness, Internal medicine, medicine.artery, SATB2-associated syndrome, Ascending aorta, Genetics, medicine, Humans, Child, Genetic Association Studies, Genetics (clinical), business.industry, SATB2, Infant, Matrix Attachment Region Binding Proteins, medicine.disease, Pulmonary hypertension, Phenotype, Collagen Type III, 030104 developmental biology, Increased risk, Child, Preschool, Chromosomes, Human, Pair 2, Face, Microcephaly, glass syndrome, Female, Chromosome Deletion, Underweight, medicine.symptom, business, Collagen Type V, 2q33.1 deletion, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e913d86abe70193a38e078109b170fd3
https://doi.org/10.1111/cge.13912

المؤلفون: Lisa E. Kratz, Kristina Cusmano-Ozog, Irene De Biase, Nancy Braverman, Silvia Tortorelli, Steven J. Steinberg

المصدر: Genetics in Medicine. 22:686-697

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Computational biology, 030105 genetics & heredity, Peroxisome, medicine.disease, Human genetics, 03 medical and health sciences, 030104 developmental biology, Peroxisomal disorder, medicine, Medical genetics, Adrenoleukodystrophy, Sample collection, business, Exome, Genetics (clinical), Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1b07777ca5e4b9068964d1a7a42782d3
https://doi.org/10.1038/s41436-019-0713-9