المؤلفون: Jennifer L Cohen, Nicole Stanford, Alejandro Torres

المصدر: Annals of Pediatric Cardiology, Vol 12, Iss 2, Pp 156-158 (2019)

مصطلحات موضوعية: Aortic arch anomaly, CHARGE syndrome, isolated carotid artery, pulmonary atresia with intact ventricular septum, Medicine, Pediatrics, RJ1-570, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: http://www.annalspc.com/article.asp?issn=0974-2069;year=2019;volume=12;issue=2;spage=156;epage=158;aulast=Cohen; https://doaj.org/toc/0974-2069

URL الوصول: https://doaj.org/article/7e00be8ff82b4792935716e664e24808

المؤلفون: Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8

المؤلفون: Rebecca A. Gibson, Bijan Abar, Lily N. Elman, Kyle M. Walsh, Jillian H. Hurst, Jennifer L. Cohen

المصدر: Reproductive, Female and Child Health, Vol 3, Iss 2, Pp n/a-n/a (2024)

مصطلحات موضوعية: genetics, gestational diabetes, pre‐eclampsia, maternal health, pregnancy complications, perinatal, Reproduction, QH471-489, Women. Feminism, HQ1101-2030.7

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2768-7228

URL الوصول: https://doaj.org/article/3bd008ebd7db488db327eb74bcd87dce

المؤلفون: Natalie B. Gulrajani, Samuel Montes, Daniel McGough, Courtney E. Wimberly, Ameera Khattab, Eleanor C. Semmes, Lisa Towry, Jennifer L. Cohen, Jillian H. Hurst, Daniel Landi, Sherika N. Hill, Kyle M. Walsh

المصدر: Cancer Medicine, Vol 12, Iss 3, Pp 3410-3418 (2023)

مصطلحات موضوعية: assisted reproductive technology, cancer risk factors, epidemiology, in vitro fertilization, liver cancer, osteosarcoma, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-7634

URL الوصول: https://doaj.org/article/ba922fa4b95b4b92a59ff2606f8deb5d

المؤلفون: Shelly Goomber, Erin Huggins, Catherine W. Rehder, Jennifer L. Cohen, Deeksha S. Bali, Priya S. Kishnani

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: pompe disease, newborn screening, variant classification, functional studies, in vitro assay, lysosomal storage disease (LSD), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1001154/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/679af5bc69674bcba68ce987b80d72dc

المؤلفون: Eleanor C. Semmes, Erica Shen, Jennifer L. Cohen, Chenan Zhang, Qingyi Wei, Jillian H. Hurst, Kyle M. Walsh

المصدر: Cancer Medicine, Vol 9, Iss 21, Pp 8216-8225 (2020)

مصطلحات موضوعية: cancer genetics, Cancer Medicine, cancer risk factors, epidemiology, genome‐wide association, height, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-7634

URL الوصول: https://doaj.org/article/8f7d78a889d14cf58f65560acb70db40

المؤلفون: Makenzie Beaman, Kimberley Fisher, Marie McDonald, Queenie K. G. Tan, David Jackson, Benjamin T. Cocanougher, Andrew P. Landstrom, Charlotte A. Hobbs, Michael Cotten, Jennifer L. Cohen

المصدر: Journal of Personalized Medicine; Volume 12; Issue 11; Pages: 1924

مصطلحات موضوعية: genome sequencing, neonatology, rapid diagnosis, rapid whole genome sequencing, precision medicine, medical genetics

وصف الملف: application/pdf

Relation: Omics/Informatics; https://dx.doi.org/10.3390/jpm12111924

الاتاحة: https://doi.org/10.3390/jpm12111924

المؤلفون: Melissa A. Parisi, Michele Caggana, Jennifer L. Cohen, Nina B. Gold, Jill A. Morris, Joseph J. Orsini, Tiina K. Urv, Melissa P. Wasserstein

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193:44-55

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cd1f36ccfa795123c17923c174f349d0
https://doi.org/10.1002/ajmg.c.32036

المؤلفون: Jerry Vockley, Annemieke Aartsma‐Rus, Jennifer L. Cohen, Lex M. Cowsert, R. Rodney Howell, Timothy W. Yu, Melissa P. Wasserstein, Thomas Defay

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193:19-29

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2821798ccdb5f2a76dc62c5bbda828a
https://doi.org/10.1002/ajmg.c.32017

المؤلفون: Shannon N. Nees, Erika B. Rosenzweig, Jennifer L. Cohen, Gerson A. Valencia Villeda, Usha S. Krishnan

المصدر: Children; Volume 7; Issue 8; Pages: 97

مصطلحات موضوعية: pulmonary hypertension, prematurity, bronchopulmonary dysplasia

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/children7080097

الاتاحة: https://doi.org/10.3390/children7080097

المؤلفون: Timothy Lee, Jennifer L. Cohen, Alice Chan, Ali N. Zaidi, Percy Boateng, Raghav A. Murthy

المصدر: World Journal for Pediatric and Congenital Heart Surgery. 14:397-399

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Surgery, General Medicine, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6045c7d3f314f0648968e92ed9f09577
https://doi.org/10.1177/21501351221149898

المؤلفون: Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro, Can Ficicioglu

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: Wolman disease, Enzyme replacement therapy, Lysosomal acid lipase deficiency, Diet, Adrenal insufficiency, Medicine

Relation: http://link.springer.com/article/10.1186/s13023-019-1129-y; https://doaj.org/toc/1750-1172; https://doaj.org/article/322acde15e3d4f02a484934639284c73

الاتاحة: https://doi.org/10.1186/s13023-019-1129-y
https://doaj.org/article/322acde15e3d4f02a484934639284c73

المؤلفون: Edward C. Smith, Sam Hopkins, Laura E. Case, Ming Xu, Crista Walters, Stephanie Dearmey, Sang-oh Han, Tracy G. Spears, Jessica A. Chichester, Edward H. Bossen, Christoph P. Hornik, Jennifer L. Cohen, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl

المصدر: Molecular Therapy.

مصطلحات موضوعية: Pharmacology, Drug Discovery, Genetics, Molecular Medicine, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ade7b2b9b5e1c9dfb4eab648fd879c08
https://doi.org/10.1016/j.ymthe.2023.02.014

المؤلفون: Rebecca A. Gibson, Bijan Abar, Lily Elman, Kyle M. Walsh, Jillian H. Hurst, Jennifer L. Cohen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3ee72c3725c087c3e4f2dd9245f87a3c
https://doi.org/10.1101/2023.01.17.23284690

المؤلفون: Jennifer L. Cohen, Pranesh Chakraborty, Karen Fung-Kee-Fung, Marisa E. Schwab, Deeksha Bali, Sarah P. Young, Michael H. Gelb, Hamid Khaledi, Alicia DiBattista, Stacey Smallshaw, Felipe Moretti, Derek Wong, Catherine Lacroix, Dina El Demellawy, Kyle C. Strickland, Jane Lougheed, Anita Moon-Grady, Billie R. Lianoglou, Paul Harmatz, Priya S. Kishnani, Tippi C. MacKenzie

المصدر: The New England journal of medicine. 387(23)

مصطلحات موضوعية: Glycogen Storage Disease Type II, Humans, Infant, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e493405f2c4ea067d78089c3ebd715f7
https://pubmed.ncbi.nlm.nih.gov/36351280

المؤلفون: Jennifer L. Cohen, Kaashif A. Ahmad, Bezalel Perelmuter, Joshua A. Frankfurt, R. Hunter Clark, Veeral N. Tolia, Reese H. Clark, Matthew E. Abrams

المصدر: Journal of Perinatology. 41:2537-2543

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Heart disease, business.industry, Mortality rate, Obstetrics and Gynecology, Congenital diaphragmatic hernia, medicine.disease, Intensive care, Hydrops fetalis, Pediatrics, Perinatology and Child Health, medicine, Etiology, Gestation, business, Atrial flutter

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7097851a0d89a22fca077b3efee9e0fb
https://doi.org/10.1038/s41372-021-01179-3

المؤلفون: Lauren Lulis, Jennifer L. Cohen, Jennifer Tarpinian, Sarah Mazzola, Emma Bedoukian, Katheryn Grand, Cara M. Skraban, Beth Denenberg, Matthew A. Deardorff, Leah Dowsett, Elaine H. Zackai, Addie I. Nesbitt, Avni Santani

المصدر: American Journal of Medical Genetics Part A. 185:2766-2775

مصطلحات موضوعية: Male, 0301 basic medicine, Mutation, Missense, Retinoic acid, Ulna, Disease, 030105 genetics & heredity, Bioinformatics, Compound heterozygosity, Craniosynostosis, 03 medical and health sciences, chemistry.chemical_compound, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Family, Child, Genetics (clinical), Fetus, business.industry, Homozygote, Infant, Retinoic Acid 4-Hydroxylase, medicine.disease, Conductive hearing loss, Radius, Phenotype, 030104 developmental biology, Synostosis, chemistry, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b628e930f2d505c1fa7c5c50b047d459
https://doi.org/10.1002/ajmg.a.62387

المؤلفون: Raghav Murthy, Sarit S. Cohen, Sathiji Nageshwaran, Jennifer L. Cohen, Barry Love, Ali N. Zaidi, Simone Jhaveri, Alice Chan

المصدر: JACC Case Reports
JACC: Case Reports, Vol 3, Iss 2, Pp 230-235 (2021)

مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Heart disease, Mini-Focus Issue: Congenital Heart Disease, Heart malformation, RA, right atrium, ES, Eisenmenger syndrome, PVR, pulmonary vascular resistance, LA, left atrium, Intracardiac injection, SVC, superior vena cava, Internal medicine, pulmonary hypertension, medicine, Diseases of the circulatory (Cardiovascular) system, Atrioventricular Septal Defect, cardiovascular diseases, business.industry, ASD, atrial septal defect, Eisenmenger syndrome, medicine.disease, Pulmonary hypertension, congenital heart disease, Shunting, RV, right ventricle, PA, pulmonary artery, LV, left ventricle, RC666-701, Cardiac repair, Cardiology, cardiovascular system, Case Report: Clinical Case, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc8cdbc2bdfe89d10c76ebd7e353969c
http://europepmc.org/articles/PMC8310966

المؤلفون: Christopher M. Cielo, Jennifer M. Kalish, Evan R Hathaway, Jonida Kupa, Kelly A. Duffy, Jennifer L. Cohen, Jesse A. Taylor

المصدر: Plast Reconstr Surg

مصطلحات موضوعية: Male, Reoperation, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Polysomnography, Beckwith–Wiedemann syndrome, 030230 surgery, Speech Disorders, Article, Time-to-Treatment, Feeding difficulty, Feeding Methods, Feeding and Eating Disorders, 03 medical and health sciences, Postoperative Complications, 0302 clinical medicine, Tongue, stomatognathic system, Macroglossia, medicine, Humans, Registries, Retrospective Studies, Sleep Apnea, Obstructive, Glossectomy, business.industry, Follow up studies, Genetic disorder, Infant, Sleep apnea, medicine.disease, Surgery, Obstructive sleep apnea, stomatognathic diseases, Treatment Outcome, Child, Preschool, 030220 oncology & carcinogenesis, Feasibility Studies, Female, Tongue reduction, medicine.symptom, business, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edd87df6717414ed36512b28744d9413
https://doi.org/10.1097/prs.0000000000006673

المؤلفون: Kristen L, Buehne, Sarah, Hart, Bradley, Williams, Jennifer L, Cohen

المصدر: Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: Male, PAX6 Transcription Factor, partial anosmia, Mutation, diabetes mellitus, Variant Discrepancy Resolution, Humans, sense organs, Exons, eye diseases, Cataract, congenital nuclear cataract, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f70ff9f136fffeb1bb1a612138742c1c
https://pubmed.ncbi.nlm.nih.gov/34893493