المؤلفون: Larson, Austin J., Wu, John F., Jones, Craig

مصطلحات موضوعية: Astrophysics - Cosmology and Nongalactic Astrophysics, Astrophysics - Astrophysics of Galaxies, Astrophysics - Instrumentation and Methods for Astrophysics

URL الوصول: http://arxiv.org/abs/2407.13735

المؤلفون: Lam, Christina, Scaglia, Fernando, Berry, Gerard T., Larson, Austin, Sarafoglou, Kyriakie, Andersson, Hans C., Sklirou, Evgenia, Tan, Queenie K.G., Starosta, Rodrigo T., Sadek, Mustafa, Morava, Eva

المساهمون: Lam, Christina, Scaglia, Fernando, Berry, Gerard T., Larson, Austin, Sarafoglou, Kyriakie, Andersson, Hans C., Sklirou, Evgenia, Tan, Queenie K.G., Starosta, Rodrigo T., Sadek, Mustafa, Morava, Eva

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/144885; S1096719224003937

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/144885
https://doi.org/10.1016/j.ymgme.2024.108509

المؤلفون: Gracie, S, Deshpande, P, Hollos, P, De, Dios K, DM, Martin, AB, Pritchard, JA, Scott Schwoerer, MR, Behrmann, LH, Seaver, Brown, K, RJ, Fernandez, Larson, Austin, Coffey, Eleanor

المصدر: Gracie , S , Deshpande , P , Hollos , P , De , D K , DM , M , AB , P , JA , S S , MR , B , LH , S , Brown , K , RJ , F , Larson , A & Coffey , E 2024 , ' Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series. ' , American journal of medical genetics. Part A . https://doi.org/10.1002/ajmg.a.63927

الاتاحة: https://research.abo.fi/en/publications/573c2b48-2025-4433-ad9f-8a70c5bff3ef
https://doi.org/10.1002/ajmg.a.63927

المؤلفون: Barca, Emanuele, Kroopnick, Adam, Houck, Alexander, Thakur, Kiran, Dugue, Rachelle, Zolkipli-Cunningham, Zarazuela, Falk, Marni, Goldstein, Amy, Demczko, Matthew, Gavrilova, Ralitza, Larson, Austin, Van Hove, Johan, Saneto, Russell, Buchsbaum, Richard, Thompson, John, Hirano, Michio

المصدر: Neurology ; volume 102, issue 17_supplement_1 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000206383

المؤلفون: Thompson, Lauren, Larson, Austin, Salz, Lisa, Veith, Regan, Tsai, John-Paul, Jayakar, Anuj, Chapman, Rachel, Gupta, Apeksha, Kingsmore, Stephen F., Dimmock, David, Bedrick, Alan, Galindo, Maureen Kelly, Casas, Kari, Mohamed, Mohamed, Straight, Lisa, Khan, M. Akram, Salyakina, Daria

المصدر: Frontiers in Pediatrics ; volume 12 ; ISSN 2296-2360

الاتاحة: http://dx.doi.org/10.3389/fped.2024.1349519
https://www.frontiersin.org/articles/10.3389/fped.2024.1349519/full

المؤلفون: DeBarber, Andrea, Kisanuki, Yaz, Nobrega, Paulo, Himes, Ryan, Jayadev, Suman, Bernat, John, Prakash, Vikram, Gibson, James, Larson, Austin, Sgobbi, Paulo, Murphy, Edward, Fedor, Brian, Po Foo, Cheryl Wong, Dutta, Rana, Imperiale, Michael, Terner-Rosenthal, Jolan, Garner, Will, Vig, Pamela, Duell, P. Barton, Perez, Sarah, Ramdhani, Ritesh, Saute, Jonas

المصدر: Genetics in Medicine Open ; volume 2, page 101039 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101039
https://api.elsevier.com/content/article/PII:S2949774424001857?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424001857?httpAccept=text/plain

المؤلفون: Lewis, Robert, Fulmer, Makenzie, Zhao, Jian, Pizzo, Lucilla, Wen, Ting, O'Shea, John, Nicholas, Thomas, Boyden, Steven, Viskochil, David, Longo, Nicola, Andrews, Ashley, Baldwin, Erin, Velinder, Matt, Butterfield, Russell, Dent, Karin, Santucci, Kourtney, Larson, Austin, Mao, Rong, Botto, Lorenzo, Bayrak-Toydemir, Pinar

المصدر: Genetics in Medicine Open ; volume 2, page 101470 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101470
https://api.elsevier.com/content/article/PII:S2949774424006162?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424006162?httpAccept=text/plain

المؤلفون: Ng, Bobby G, Eklund, Erik A, Shiryaev, Sergey A, Dong, Yin Y, Abbott, Mary‐Alice, Asteggiano, Carla, Bamshad, Michael J, Barr, Eileen, Bernstein, Jonathan A, Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K, Ciliberto, Michael A, Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D, Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S, Hoganson, George E, Houck, Kimberly M, Kohler, Jennefer N, Morava, Eva, Larson, Austin A, Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi JL, Miller, Rebecca, Monaghan, Kristin G, Nickerson, Deborah A, Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A, Scheffer, Ingrid E, Schenone, Andrea Beatriz, Schnur, Rhonda E, Si, Yue, Rowe, Leah J, Russi, Alvaro H Serrano, Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Villanueva, María Mercedes, Wang, Raymond Y, Webster, Richard I, Wilson, Dorcas, Zalan, Alice, Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases, Wolfe, Lynne A, Rosenfeld, Jill A, Rhodes, Lindsay, Freeze, Hudson H

المصدر: Journal of Inherited Metabolic Disease. 43(6)

مصطلحات موضوعية: Pediatric, Brain Disorders, Neurosciences, Neurodegenerative, Epilepsy, Biomarkers, Child, Preschool, Congenital Disorders of Glycosylation, Diet, Ketogenic, Female, Glycosylation, Humans, Infant, Male, Mutation, N-Acetylglucosaminyltransferases, Spasms, Infantile, Transferrin, congenital disorders of glycosylation, epilepsy, N-linked glycosylation, whole exome sequencing, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3x16x320

المؤلفون: Zhao, Piming, Liu, Isaac, Hodgin, Jeffrey, Benke, Peter, Selva, Jeremy, Torta, Federico, Wenk, Markus, Endrizzi, James, West, Olivia, Ou, Weixing, Tang, Emily, Goh, Denise, Tay, Stacey, Yap, Hui-Kim, Loh, Alwin, Weaver, Nicole, Sullivan, Bonnie, Larson, Austin, Cooper, Megan, Alhasan, Khalid, Alangari, Abdullah, Salim, Suha, Gumus, Evren, Chen, Karin, Zenker, Martin, Hildebrandt, Friedhelm, Saba, Julie

المصدر: Journal of Inherited Metabolic Disease. 43(5)

مصطلحات موضوعية: SGPL1, SPL insufficiency syndrome, pyridoxal 5′-phosphate, sphingolipidosis, sphingosine phosphate lyase, sphingosine-1-phosphate, vitamin B6, Adrenal Insufficiency, Aldehyde-Lyases, Biomarkers, Dietary Supplements, Fibroblasts, Humans, Lymphopenia, Mutation, Nephrosis, Phosphates, Syndrome, Vitamin B 6

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0zr003cr

المؤلفون: Fernández, Andrea Cortés, Estrella, Jane, Oglesbee, Devin, Larson, Austin A, Van Hove, Johan L K

المصدر: J Inherit Metab Dis ; ISSN:1573-2665 ; Volume:48 ; Issue:1

مصطلحات موضوعية: biomarker, mitochondrial DNA deletion, mitochondrial DNA maintenance disorder, mitochondrial tRNAs

Relation: https://doi.org/10.1002/jimd.12821; https://pubmed.ncbi.nlm.nih.gov/39582258; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11671288/

الاتاحة: https://doi.org/10.1002/jimd.12821
https://pubmed.ncbi.nlm.nih.gov/39582258
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11671288/

المؤلفون: Nicoli, Elena-Raluca, Weston, Mary, Hackbarth, Mary, Becerril, Alissa, Larson, Austin, Zein, Wadih, Baker, Peter, Burke, John, Dorward, Heidi, Davids, Mariska, Huang, Yan, Adams, David, Zerfas, Patricia, Chen, Dong, Markello, Thomas, Toro, Camilo, Wood, Tim, Elliott, Gene, Vu, Mylinh, Zheng, Wei, Garrett, Lisa, Tifft, Cynthia, Gahl, William, Day-Salvatore, Debra, Mindell, Joseph, Malicdan, May

المصدر: American Journal of Human Genetics. 104(6)

مصطلحات موضوعية: ClC-7 antiporter, chloroquine, cutaneous albinism, lysosomal hyperacidity, lysosomal membrane counterion, lysosomal pH, lysosomal storage disease, oculocutaneous albinism, Acids, Albinism, Animals, Chloride Channels, Female, Fibroblasts, Genetic Variation, Humans, Hydrogen-Ion Concentration, Infant, Lysosomal Storage Diseases, Lysosomes, Male, Mice, Oocytes, Xenopus laevis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0xp9k0xs

المؤلفون: Ivaniuk, Alina, Anselm, Irina A., Bowen, Aaron, Cohen, Bruce H., Eminoglu, Fatma Tuba, Estrella, Jane, Gallagher, Renata C., Ganetzky, Rebecca D., Gannon, Jennifer, Gorman, Grainne S., Greene, Carol, Gropman, Andrea L., Haas, Richard H., Hirano, Michio, Kapoor, Seema, Karaa, Amel, Koenig, Mary Kay, Kornblum, Cornelia, Kose, Engin, Larson, Austin

المصدر: Neurology; 2/25/2025, Vol. 104 Issue 4, p1-13, 13p

المؤلفون: Wigby, Kristen, Hammer, Monia, Tokita, Mari, Patel, Priyanka, Jones, Marilyn C., Larson, Austin, Bartolomei, Frances Velez, Dykzeul, Natalie, Slavotinek, Anne, Yip, Tiffany, Bandres‐Ciga, Sara, Simpson, Brittany N., Suhrie, Kristen, Shankar, Suma, Veith, Regan, Bragg, Jennifer, Powell, Cynthia, Kingsmore, Stephen F., Dimmock, David, Maron, Jill, Davis, Jonathan, Del Campo, Miguel

المساهمون: National Center for Advancing Translational Sciences, National Human Genome Research Institute, National Institute of Child Health and Human Development, National Institute of Neurological Disorders and Stroke

المصدر: American Journal of Medical Genetics Part A ; volume 191, issue 4, page 930-940 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63097
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63097
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.63097

المؤلفون: Karakus, Kagan Ege, Suryadevara, Varun, Larson, Austin, Gangadhar, Prathosh, Shah, Viral N

المصدر: JBMR Plus ; volume 7, issue 11 ; ISSN 2473-4039 2473-4039

الاتاحة: http://dx.doi.org/10.1002/jbm4.10824

المؤلفون: Altassan, Ruqaiah, Allers, Michael M., De Graef, Diederik, Shah, Rameen, de Vries, Maaike, Larson, Austin, Glamuzina, Emma, Morava, Eva

المساهمون: National Institute of Child Health and Human Development

المصدر: Molecular Genetics and Metabolism ; volume 140, issue 3, page 107688 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2023.107688
https://api.elsevier.com/content/article/PII:S1096719223003189?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719223003189?httpAccept=text/plain

المؤلفون: Zhao, Jian, Longo, Nicola, Lewis, Robert, Nicholas, Thomas, Boyden, Steven, Andrews, Ashley, Larson, Austin, Bayrak-Toydemir, Pinar, Botto, Lorenzo, Mao, Rong

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100642 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100642
https://api.elsevier.com/content/article/PII:S2949774423006428?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423006428?httpAccept=text/plain

المؤلفون: Bayat, Allan, Liu, Zhenjiang, Luo, Sheng, Fenger, Christina D., Højte, Anne F., Isidor, Bertrand, Cogne, Benjamin, Larson, Austin, Zanus, Caterina, Faletra, Flavio, Keren, Boris, Musante, Luciana, Gourfinkel-An, Isabelle, Perrine, Charles, Demily, Caroline, Lesca, Gaeton, Liao, Weiping, Ren, Dejian

المساهمون: Intellectual and Developmental Disabilities Research Center, Novo Nordisk Fonden, National Institutes of Health

المصدر: Genetics in Medicine ; volume 25, issue 9, page 100894 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2023.100894
https://api.elsevier.com/content/article/PII:S1098360023009073?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360023009073?httpAccept=text/plain

المؤلفون: Radenkovic, Silvia, Ligezka, Anna N., Mokashi, Sneha S., Driesen, Karen, Dukes-Rimsky, Lynn, Preston, Graeme, Owuocha, Luckio F., Sabbagh, Leila, Mousa, Jehan, Lam, Christina, Edmondson, Andrew, Larson, Austin, Schultz, Matthew, Vermeersch, Pieter, Cassiman, David, Witters, Peter, Beamer, Lesa J., Kozicz, Tamas, Flanagan-Steet, Heather, Ghesquière, Bart, Morava, Eva

المصدر: Cell Reports Medicine ; volume 4, issue 6, page 101056 ; ISSN 2666-3791

الاتاحة: http://dx.doi.org/10.1016/j.xcrm.2023.101056
https://api.elsevier.com/content/article/PII:S2666379123001702?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666379123001702?httpAccept=text/plain

المؤلفون: Jouret, Guillaume, Heide, Solveig, Sorlin, Arthur, Faivre, Laurence, Chantot-Bastaraud, Sandra, Beneteau, Claire, Denis-Musquer, Marie, Turnpenny, Peter D, Coutton, Charles, Vieville, Gaëlle, Thevenon, Julien, Larson, Austin, Petit, Florence, Boudry, Elise, Smol, Thomas, Delobel, Bruno, Duban-Bedu, Bénédicte, Fallerini, Chiara, Mari, Francesca, Lo Rizzo, Caterina, Renieri, Alessandra, CABERG, Jean-Hubert, Denommé-Pichon, Anne-Sophie, Tran Mau-Them, Frédéric, Maystadt, Isabelle, Courtin, Thomas, Keren, Boris, Mouthon, Linda, Charles, Perrine, Cuinat, Silvestre, Isidor, Bertrand, Theis, Philippe, Müller, Christian, Kulisic, Marizela, Türkmen, Seval, Stieber, Daniel, Bourgeois, Dominique, Scalais, Emmanuel, Klink, Barbara

المصدر: Clinical Genetics, 102 (2), 117 - 122 (2022-08)

مصطلحات موضوعية: BRD4, BRD4-related syndrome, Cornelia de Lange syndrome, NIPBL, cohesinopathy, BRD4 protein, human, Cell Cycle Proteins, Nuclear Proteins, Transcription Factors, Cell Cycle Proteins/genetics, Child, Female, Genomics, Humans, Mutation, Phenotype, Pregnancy, Transcription Factors/genetics, De Lange Syndrome/diagnosis, De Lange Syndrome/genetics, De Lange Syndrome/pathology, Nuclear Proteins/genetics, De Lange Syndrome, Genetics, Genetics (clinical), Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14141; urn:issn:0009-9163; urn:issn:1399-0004

URL الوصول: https://orbi.uliege.be/handle/2268/298272

المؤلفون: Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle, Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Tran Mau-Them, Frédéric, Tessarech, Marine, Colin, Estelle, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy, Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth, Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia, Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, Lecoquierre, François

المساهمون: Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), GeneDx Gaithersburg, MD, USA, Centre hospitalier universitaire de Poitiers = Poitiers University Hospital (CHU de Poitiers La Milétrie ), Université Bourgogne Franche-Comté COMUE (UBFC), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Institut de génétique médicale d’Alsace (IGMA), Les Hôpitaux Universitaires de Strasbourg (HUS), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Sorbonne Université (SU), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire CHU Grenoble (CHUGA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Centre Hospitalier Universitaire CHU Grenoble (CHUGA), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Ghent University Hospital, Columbia University Irving Medical Center (CUIMC), University of Colorado Anschutz Aurora, University of Tennessee System, Rutgers New Jersey Medical School (NJMS), Rutgers University System (Rutgers), Université de Lille, Hôpital de la Timone CHU - APHM (TIMONE), CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Maine Medical Center, Arnold Palmer Hospital, Boston Children's Hospital, National Center of Genetics, Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010)

المصدر: ISSN: 0340-6717.

مصطلحات موضوعية: MESH: Adolescent, MESH: Adult, MESH: Obesity, MESH: Phenotype, MESH: Transcription Factors, MESH: Young Adult, MESH: Child, Preschool, MESH: Epilepsy, MESH: Feeding and Eating Disorders, MESH: Female, MESH: Genetic Association Studies, MESH: Genetic Variation, MESH: Heterozygote, MESH: Humans, MESH: Infant, MESH: Language Development Disorders, MESH: Male, MESH: Nerve Tissue Proteins, MESH: Neurodevelopmental Disorders, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/34748075; PUBMED: 34748075

الاتاحة: https://hal.science/hal-03820933
https://hal.science/hal-03820933v1/document
https://hal.science/hal-03820933v1/file/Myt1l.pdf
https://doi.org/10.1007/s00439-021-02383-z