المؤلفون: Kara Simpson, Nicholas Ah Mew, Ljubica Caldovic, Annette Feigenbaum, Raquel Fernandez, Emily Groopman, Andrea Gropman, Emily Kudalkar, Uta Lichter-Konecki, McKenna Kyriss, Elaine Spector, Meredith Weaver, Manya Warrier, Diane Zastrow, Amanda Thomas-Wilson

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100884- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442400030X; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/cd6c80da050b43fc9abb2af511554055

المؤلفون: Jennifer Schleit, Meredith Wright, Lauren Olsen, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Kevin Hall, Christian Hansen, Charlotte Hobbs, Mark Kiel, Chad Krilow, Chris Kunard, YongHyun Kwon, Rao Madhavrao, Shyamal Mehtalia, William Mowrey, Jennie Le, Jeremy Leipzig, Yupu Liang, Rebecca Mardach, Danny Oh, Mallory Owen, Liana Protopsaltis, Erica Sanford Kobayashi, Gunter Scharer, Brandon Schultz, Seth Shelnutt, Laurie Smith, Duke Tran, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Aaron Wolen, Mark Yandell, Thomas Defay, Stephen Kingsmore

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101043- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424001894; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/5daec32c1b634cde9bb11add9157b198

المؤلفون: Kanika Parashar, Kristen Wigby, Annette Feigenbaum, Miguel Del Campo

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101364- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424005107; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/c9df7ae8d6fe47bbac6e4d78deab2f60

المؤلفون: Alexa Dickson, May Flowers, Marcus Miller, Elaine Spector, Gregory Enns, Heather Baudet, Marzia Pasquali, Lemuel Racacho, Kianoush Sadre-Bazzaz, Ting Wen, Melissa Fogarty, Raquel Fernandez, Meredith Weaver, Annette Feigenbaum, Brett Graham, Rong Mao

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101591- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424007374; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/52935668b65e482f90d939a3ea323c4b

المؤلفون: Mallory J. Owen, Sebastien Lefebvre, Christian Hansen, Chris M. Kunard, David P. Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary J. Willis, Annette Feigenbaum, Anna-Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal S. Mehtalia, Kevin K. Chau, Yong H. Kwon, Zhanyang Zhu, Sergey Batalov, Shimul Chowdhury, Seema Rego, James Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, Gail Knight, Albert Oriol, Jerica Lenberg, Shareef A. Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford, Kristen Wigby, Jacqueline Weir, Vicki S. Thomson, Louise Fraser, Seka S. Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/c8a8f4d045b24f4586c6fb67d44e877e

المؤلفون: Xin (David) Wang, Kelly Kirsten, Meredith Wright, Olivia Kim-McManus, Sophia Ceulemans, Annette Feigenbaum, Hannah Tsai, Jerica Lenberg, Paula Gray, Deepali Shinde, Lucia Guidugli, Mari Tokita

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100631- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423006313; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/c048bfe235b142d0bf81c0fd0550443e

المؤلفون: Kathryn DeLong, Annette Feigenbaum, Laura Pollard, Andrew Lay, Timothy Wood

المصدر: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100920- (2022)

مصطلحات موضوعية: Morquio A syndrome, MPS IVA, Homozygous deletion, GALNS, Lysosomal storage disorder, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000805; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/ae3364a59b9246e68308cee965f3cdca

المؤلفون: Annette Feigenbaum

المصدر: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100941- (2022)

مصطلحات موضوعية: Manifesting heterozygote, Partial onset, Late onset, Ornithine transcarbamylase deficiency, Urea cycle disorder, X-linked, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442692200101X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/336e5750a73c4720a8a7f0459f63d9a0

المؤلفون: Annette Feigenbaum, Leah Lamale-Smith, Lawrence Weinstein

المصدر: Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100894- (2022)

مصطلحات موضوعية: Urea cycle disorder, Ornithine transcarbamylase deficiency, X-linked, hyperammonemia, Peripartum management, Pregnancy, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000544; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/72030107319a4225a3ba5b6b1934fb91

المؤلفون: Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Melanie Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty, on behalf of the Canadian Inherited Metabolic Diseases Research Network

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Inherited metabolic diseases, Observational research, Registry science, Data quality, Database, Sustainability, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01358-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4dd97f1f0f9c499290bec8147590f10e

المؤلفون: Bernd C. Schwahn, Thomas Scheffner, Hedwig Stepman, Peter Verloo, Anibh M Das, Janice Fletcher, Henk J Blom, Jean‐Francois Benoist, Bruce A. Barshop, Jaime J. Barea, Annette Feigenbaum

المصدر: JIMD Reports, Vol 52, Iss 1, Pp 3-10 (2020)

مصطلحات موضوعية: adverse drug effect, betaine, brain edema, CBS deficiency, encephalopathy, homocystinuria, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/84539154ffee4aaaab416f986c502c2b

المؤلفون: Maria D. Karaceper, Sara D. Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Christine Davies, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Steven Hawken, Robin Z. Hayeems, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little, Aizeddin Mhanni, John J. Mitchell, Meranda Nakhla, Murray Potter, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Sylvia Stockler, Keiko Ueda, Hilary Vallance, Brenda J. Wilson, Pranesh Chakraborty, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Newborn screening, Inherited metabolic diseases, Health service utilization, Medium-chain acyl-CoA dehydrogenase deficiency, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1001-0; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a72bcbf99e054f53a45cf6d8dba004cf

المؤلفون: Yue Huang, Rajesh Sharma, Annette Feigenbaum, Chung Lee, Inderneel Sahai, Rossana Sanchez Russo, Juanita Neira, Susan Sklower Brooks, Kelly E. Jackson, Derek Wong, Stephen Cederbaum, Felicitas L. Lacbawan, Charles M. Rowland, Pranoot Tanpaiboon, Denise Salazar

المصدر: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100735- (2021)

مصطلحات موضوعية: Arginase deficiency, Newborn screening, NBS, Arginine, Ornithine, Arg/Orn ratio, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442692100029X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/3bd6b55f70134d4d897f63c7b81b6687

المؤلفون: Stephen F. Kingsmore, Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo Del Angel, David P. Dimmock, Yan Ding, Katarzyna Ellsworth, Annette Feigenbaum, Erwin Frise, Robert C. Green, Lucia Guidugli, Kevin P. Hall, Christian Hansen, Charlotte A. Hobbs, Scott D. Kahn, Mark Kiel, Lucita Van Der Kraan, Chad Krilow, Yong H. Kwon, Lakshminarasimha Madhavrao, Jennie Le, Sebastien Lefebvre, Rebecca Mardach, William R. Mowrey, Danny Oh, Mallory J. Owen, George Powley, Gunter Scharer, Seth Shelnutt, Mari Tokita, Shyamal S. Mehtalia, Albert Oriol, Stavros Papadopoulos, James Perry, Edwin Rosales, Erica Sanford, Steve Schwartz, Duke Tran, Martin G. Reese, Meredith Wright, Narayanan Veeraraghavan, Kristen Wigby, Mary J. Willis, Aaron R. Wolen, Thomas Defay.

المصدر: American journal of human genetics, vol 109, iss 9

مصطلحات موضوعية: clinical decision support, UK Biobank, diagnosis, Critical Illness, clinical utility, specificity, rapid whole-genome sequencing, Medical and Health Sciences, Neonatal Screening, Rare Diseases, genetic disease, Clinical Research, Genetics, Humans, Genetic Testing, Precision Medicine, Child, Genetics (clinical), Retrospective Studies, Pediatric, Genetics & Heredity, virtual management guidance, newborn screening, Prevention, diagnostic odyssey, Human Genome, Infant, Newborn, Infant, Perinatal Period - Conditions Originating in Perinatal Period, Biological Sciences, Newborn, sensitivity, gene therapy, orphan drug, Brain Disorders, Good Health and Well Being

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9e5398764608d2c19993194c7d957e0
https://doi.org/10.1016/j.ajhg.2022.08.003

المؤلفون: Annette Feigenbaum

المصدر: Molecular genetics and metabolism reports. 33(Suppl 1)

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e74b9fab0073cb88f64d86c50d07ca9e
https://pubmed.ncbi.nlm.nih.gov/36620389

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: Kara Simpson, Nicholas Ah. Mew, Ljubica Caldovic, William Craigen, Annette Feigenbaum, Raquel Fernandez, Emily Groopman, Andrea Gropman, Emily Kudalker, McKenna Kyriss, Uta Lichter-Konecki, Sandesh Nagamani, Elaine Spector, Amanda Thomas-Wilson, Manya Warrier, Meredith Weaver, Diane Zastrow

المصدر: Molecular Genetics and Metabolism. 138:107488

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9973690bc22440ca145e72c75da7cf31
https://doi.org/10.1016/j.ymgme.2023.107488

المؤلفون: Kathryn DeLong, Annette Feigenbaum, Laura Pollard, Andrew Lay, Timothy Wood

المصدر: Genetics in Medicine. 24:S5-S6

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cb7cd3c17b3b73a99526f868d11887ce
https://doi.org/10.1016/j.gim.2022.01.047

المؤلفون: Ozlem Senol-Cosar, Marzia Pasquali, Meredith A. Weaver, Wei Shen, Justyne Ross, Annette Feigenbaum, Gregory M. Enns, Kathleen Wallace, Elaine Lyon, Rong Mao, Jennifer McGlaughon, Heather Baudet

المصدر: Molecular Genetics and Metabolism. 128:122-128

مصطلحات موضوعية: 0301 basic medicine, Endocrinology, Diabetes and Metabolism, Disease, 030105 genetics & heredity, Bioinformatics, Biochemistry, Lipid Metabolism, Inborn Errors, 03 medical and health sciences, Strength of evidence, Neonatal Screening, 0302 clinical medicine, Endocrinology, Genetics, medicine, Humans, Genetic Predisposition to Disease, Clinical significance, Genetic Testing, Molecular Biology, Beta oxidation, Gene, Genetic testing, Newborn screening, medicine.diagnostic_test, business.industry, Fatty Acids, Infant, Newborn, Reproducibility of Results, Clinical validity, business, Oxidation-Reduction, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeed1be544e2f15cc23b9f7eb6cebaaa
https://doi.org/10.1016/j.ymgme.2019.07.008

المؤلفون: Jerica Lenberg, Zaira Bezares-Orin, Kevin K Chau, Mallory J Owen, Shimul Chowdhury, Annette Feigenbaum, Stephen F. Kingsmore, Yan Ding, Jeffrey P. Gold

المصدر: Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: Research Report, Encephalopathy, Physiology, Consanguinity, generalized tonic seizures, Sepsis, Pregnancy, Seizures, Intensive care, Medicine, Humans, Oxidoreductases Acting on Sulfur Group Donors, Family history, Frameshift Mutation, Sulfite oxidase deficiency, Amino Acid Metabolism, Inborn Errors, abnormality of urinary uric acid concentration, Cerebral Cortex, Newborn screening, Whole Genome Sequencing, business.industry, limb hypertonia, Sulfite Oxidase, Homozygote, Infant, Newborn, Infant, episodic tachypnea, General Medicine, episodic respiratory distress, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Dried blood spot, Pedigree, Child, Preschool, Female, business, central hypotonia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32329bbd2e9eaea4a67eeb2b6453910b
https://pubmed.ncbi.nlm.nih.gov/34117075