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1دورية أكاديمية
المؤلفون: Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
مصطلحات موضوعية: CRISPR, Genitopatellar syndrome, KAT6B‐related disorders, phenotypic spectrum, Say‐Barber‐Biesecker‐Young‐Simpson syndrome, variable expressivity, rare genetic diagnosis, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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المؤلفون: Abigail L Alexander, Swee Yang Lim, Lauren J Massingham, Oliver Phillips, Mary-Kathryn Chambers, John E Donahue
المصدر: Journal of Neuropathology & Experimental Neurology. 81:1033-1036
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology, Glial Fibrillary Acidic Protein, Mutation, Humans, Brain, Alexander Disease, Autopsy, Neurology (clinical), General Medicine, Pathology and Forensic Medicine
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المؤلفون: Amélie Cordovado, Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne-Sophie Denommé-Pichon, Boris Keren, Cyril Mignot, Martine Doco-Fenzy, Lance Rodan, Keri Ramsey, Vinodh Narayanan, Julie R Jones, Eloise J Prijoles, Wendy G Mitchell, Jillian R Ozmore, Kali Juliette, Erin Torti, Elizabeth A Normand, Leslie Granger, Andrea K Petersen, Margaret G Au, Juliann P Matheny, Chanika Phornphutkul, Mary-Kathryn Chambers, Joaquín-Alejandro Fernández-Ramos, Eduardo López-Laso, Michael C Kruer, Somayeh Bakhtiari, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Davide Mei, Tiziana Pisano, Renzo Guerrini, Raymond J Louie, Anna Childers, David B Everman, Betrand Isidor, Séverine Audebert-Bellanger, Sylvie Odent, Dominique Bonneau, Brigitte Gilbert-Dussardier, Richard Redon, Stéphane Bézieau, Frédéric Laumonnier, Esther T Stoeckli, Annick Toutain, Marie-Laure Vuillaume
المساهمون: Jonchère, Laurent, Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universität Zürich [Zürich] = University of Zurich (UZH), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hémostase et Remodelage Vasculaire Post-Ischémie (HERVI - EA 3801), Université de Reims Champagne-Ardenne (URCA), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), The Translational Genomics Research Institute (TGen), The Greenwood Genetic Center, Keck School of Medicine [Los Angeles], University of Southern California (USC), Dartmouth Hitchcock Medical Center [Lebanon], Gillette Children's Specialty Healthcare [St Paul], GeneDx [Gaithersburg, MD, USA], Randall Children's Hospital [Portland], University of Kentucky (UK), Warren Alpert Medical School of Brown University, Rhode Island Hospital [Providence, RI, États-Unis], Instituto Maimonides de Investigación Biomédica de Cordoba (IMIBIC), Universidad de Córdoba = University of Córdoba [Córdoba]-Hospital Universitario Reina Sofía, Barrow Neurological Institute, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Telethon Institute of Genetics and Medicine = Istituto Telethon di Genetica e Medicina (TIGEM), Università degli Studi di Firenze = University of Florence (UniFI), Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Morvan - CHRU de Brest (CHU - BREST ), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Funding for HUGODIMS (Western France exome-based trio approach project to identifygenes involved in intellectual disability) was supported by a grant from the French Ministryof Health and from the Health Regional Agency from Poitou-Charentes [HUGODIMS, 2013,RC14_0107]. [A.C.] is a research student recipient of a grant from the University of Tours., Cordovado, Amélie, Schaettin, Martina, Jeanne, Médéric, Panasenkava, Veranika, Denommé-Pichon, Anne-Sophie, Keren, Bori, Mignot, Cyril, Doco-Fenzy, Martine, Rodan, Lance, Ramsey, Keri, Narayanan, Vinodh, Jones, Julie R, Prijoles, Eloise J, Mitchell, Wendy G, Ozmore, Jillian R, Juliette, Kali, Torti, Erin, Normand, Elizabeth A, Granger, Leslie, Petersen, Andrea K, Au, Margaret G, Matheny, Juliann P, Phornphutkul, Chanika, Chambers, Mary-Kathryn, Fernández-Ramos, Joaquín-Alejandro, López-Laso, Eduardo, Kruer, Michael C, Bakhtiari, Somayeh, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Mei, Davide, Pisano, Tiziana, Guerrini, Renzo, Louie, Raymond J, Childers, Anna, Everman, David B, Isidor, Betrand, Audebert-Bellanger, Séverine, Odent, Sylvie, Bonneau, Dominique, Gilbert-Dussardier, Brigitte, Redon, Richard, Bézieau, Stéphane, Laumonnier, Frédéric, Stoeckli, Esther T, Toutain, Annick, Vuillaume, Marie-Laure
المصدر: Human Molecular Genetics
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Hum Mol Genetمصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, Epilepsy, Dendritic Spines, [SDV]Life Sciences [q-bio], Intellectual disability, Chick Embryo, Semaphorins, [SDV.GEN] Life Sciences [q-bio]/Genetics, General Medicine, Settore MED/03 - GENETICA MEDICA, Axon Guidance, [SDV] Life Sciences [q-bio], HEK293 Cells, SEMA6B, Intellectual Disability, Genetics, Animals, Humans, Original Article, Molecular Biology, Genetics (clinical)
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d974822a75fd96597543ff49dc52620f
https://hdl.handle.net/10807/232271 -
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المؤلفون: Kathryn Elliott, Siddharth Srivastava, Meghan C. Towne, Hannah Medsker, Catherine Gooch, Robin D. Clark, John M. Graham, Chanika Phornphutkul, Jill A. Madden, Pankaj B. Agrawal, Maria F. Palafox, Deborah Krakow, Meghna Singh, Daniela N. Schweitzer, Ryan Gates, Ali Fatemi, Kimberly Nugent, Katheryn Grand, Samantha A. Schrier Vergano, Brianna K. Murray, Kate A. Tauber, Weiyi Mu, Erin Swartz, Timothy W. Yu, Julie S. Cohen, Kimberly Glaser, Svetlana Azova, Paul J. Benke, Mary Kathryn Chambers, Dana H. Goodloe, Christina Kresge, Valerie A. Arboleda, John A. Pugh, Kristin W. Barañano, Megan Yabumoto, S. Joy Dean, Beth A. Pletcher, Subhadra Ramanathan, Angela Wei, Jessica Kianmahd, Elizabeth Roeder, Natalia Gomez-Ospina, Jessica Smith, Cynthia S. Gubbels, Anne H. O’Donnell-Luria
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol 9, iss 10مصطلحات موضوعية: Male, Say-Barber-Biesecker-Young-Simpson syndrome, rare genetic diagnosis, QH426-470, Bioinformatics, Kidney, Cohort Studies, Craniofacial Abnormalities, Congenital, Intellectual disability, Medicine, CRISPR, 2.1 Biological and endogenous factors, variable expressivity, rare genetic diagnosis, Medical diagnosis, Aetiology, Genetics (clinical), Heart Defects, Histone Acetyltransferases, Pediatric, Patella, Phenotype, Scrotum, Original Article, Abnormalities, KAT6B-related disorders, Multiple, Heart Defects, Congenital, Joint Instability, Genitopatellar syndrome, Genotype, Genetic counseling, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Genetic Counseling, Blepharophimosis, Medicinal and Biomolecular Chemistry, Rare Diseases, Clinical Research, variable expressivity, Intellectual Disability, Congenital Hypothyroidism, Genetics, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Genetic Testing, Craniofacial, Molecular Biology, Alleles, Genetic Association Studies, KAT6B‐related disorders, business.industry, Facies, Original Articles, medicine.disease, Say‐Barber‐Biesecker‐Young‐Simpson syndrome, Transcriptome Sequencing, Brain Disorders, Genetic Loci, Urogenital Abnormalities, Mutation, Congenital Structural Anomalies, Psychomotor Disorders, business, phenotypic spectrum
وصف الملف: application/pdf
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المؤلفون: Megan Carricato, Arjuna Srikrishnaraj, Courtney South, Penni Kean, Kathryn Chambers, Beth Haliburton, Anna Tedesco‐Bruce, Christina Belza, Debra Harrison, Laura Vresk, Glenda Courtney-Martin, Paul W. Wales, Yaron Avitzur, Dianna Yanchis, Jordan Zietsma, Joanna Benec, Megan Arppe Robertson
المصدر: JPEN. Journal of parenteral and enteral nutritionReferences. 45(2)
مصطلحات موضوعية: Canada, Manganese, Parenteral Nutrition Solutions, Nutrition and Dietetics, business.industry, Medicine (miscellaneous), Contamination, Trace Elements, Animal science, Parenteral nutrition, Medicine, Humans, business, Child, Drug Contamination
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المؤلفون: Paul C. Wales, Marialena Mouzaki, Carol K.L. Lam, Inez Martincevic, Kathryn Chambers, Peter C Church, Laura Vresk, Robert H. J. Bandsma, Beth Haliburton, Yaron Avitzur, Glenda Courtney-Martin
المصدر: Journal of Pediatric Gastroenterology & Nutrition. 66:501-504
مصطلحات موضوعية: Male, 0301 basic medicine, Fat Emulsions, Intravenous, medicine.medical_specialty, Time Factors, Adolescent, Conjugated bilirubin, Severity of Illness Index, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Severity of illness, medicine, Humans, In patient, Longitudinal Studies, Child, Prospective cohort study, Phospholipids, Retrospective Studies, Liver injury, 030109 nutrition & dietetics, business.industry, Liver Diseases, Infant, Newborn, Infant, Retrospective cohort study, medicine.disease, Soybean Oil, Hospitalization, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Lipid emulsion, Emulsions, Female, 030211 gastroenterology & hepatology, business
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المؤلفون: Glenda Courtney-Martin, Kevin Fitzgerald, Karen Steinberg, Nicole de Silva, Yaron Avitzur, Christina Kosar, Paul W. Wales, Kathryn Chambers, Elizabeth Harvey
المصدر: Journal of Pediatric Surgery. 51:794-797
مصطلحات موضوعية: Male, medicine.medical_specialty, Renal function, Kidney, Kidney Function Tests, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Risk Factors, Interquartile range, Internal medicine, Prevalence, medicine, Humans, Ultrasonography, Creatinine, business.industry, Infant, Echogenicity, General Medicine, Short bowel syndrome, medicine.disease, Intestines, Nephrocalcinosis, Cross-Sectional Studies, Endocrinology, Parenteral nutrition, chemistry, Child, Preschool, 030220 oncology & carcinogenesis, Relative risk, Pediatrics, Perinatology and Child Health, Female, 030211 gastroenterology & hepatology, Surgery, business
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المؤلفون: Megan Carricato, Yaron Avitzur, Nathalie Loeb, Penni Kean, Krista Van Roestel, Paul W. Wales, Glenda Courtney-Martin, Michele Strom, Kathryn Chambers, Vicky L. Ng, Jillian Owens, Farsad Farassati
المصدر: Journal of pediatric gastroenterology and nutrition. 66(4)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Multivariate statistics, Multivariate analysis, medicine.medical_treatment, 030230 surgery, Standard score, Liver transplantation, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Child Development, Medicine, Humans, Child, Retrospective Studies, Proportional hazards model, business.industry, Body Weight, Gastroenterology, Retrospective cohort study, Body Height, Liver Transplantation, Transplantation, surgical procedures, operative, Treatment Outcome, Child, Preschool, Pediatrics, Perinatology and Child Health, 030211 gastroenterology & hepatology, Female, business, Cohort study, Follow-Up Studies
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المؤلفون: Debra Harrison, Karen Steinberg, Christina Kosar, Paul W. Wales, Kathryn Chambers, Yaron Avitzur, Alison Campbell, Glenda Courtney-Martin
المصدر: JPEN. Journal of parenteral and enteral nutrition. 39(5)
مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Canada, Parenteral Nutrition, Adolescent, Encephalopathy, Medicine (miscellaneous), Metabolic bone disease, medicine, Humans, Child, Retrospective Studies, Gastrointestinal tract, Brain Diseases, Parenteral Nutrition Solutions, Nutrition and Dietetics, business.industry, United States Food and Drug Administration, Infant, medicine.disease, Sick child, Hospitals, United States, Hospitalization, Bone Diseases, Metabolic, Increased risk, Parenteral nutrition, Neurodevelopmental Disorders, Case-Control Studies, Child, Preschool, Toxicity, Cohort, Parenteral Nutrition, Total, business, Drug Contamination, Infant, Premature, Aluminum