المؤلفون: van Karnebeek, Clara D. M., Tarailo-Graovac, Maja, Leen, Rene, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drogemoller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, 1972, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R. J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michel A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frederic M., Wassermann, Wyeth W., Houtkooper, Riekelt H., van Kuilenburg, Andre B. P.

المصدر: Genetics in Medicine. 26(6)

مصطلحات موضوعية: CIAO1 and MMS19, Cofactor, Infection, Iron-sulfur clusters, Neurodegeneration

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-531109Test
https://doi.org/10.1016/j.gim.2024.101104Test
https://uu.diva-portal.org/smash/get/diva2:1868261/FULLTEXT01.pdfTest

المؤلفون: Ng, Bobby G., Freeze, Hudson H., Himmelreich, Nastassja, Blau, Nenad, Ferreira, Carlos R.

المصدر: Molecular Genetics and Metabolism ; volume 142, issue 1, page 108476 ; ISSN 1096-7192

الإتاحة: https://doi.org/10.1016/j.ymgme.2024.108476Test
https://api.elsevier.com/content/article/PII:S1096719224003603?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719224003603?httpAccept=text/plainTest

المؤلفون: Ferreira, Carlos R, Rahman, Shamima, Keller, Markus, Zschocke, Johannes, ICIMD Advisory Group

المصدر: Journal of inherited metabolic disease. 44(1)

مصطلحات موضوعية: ICIMD Advisory Group, Humans, Metabolism, Inborn Errors, International Classification of Diseases, ICIMD, classification, inherited metabolic disorders, ontology, Genetics, Clinical Research, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/60p0p666Test

المؤلفون: Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow‐Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo‐Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti‐Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser‐Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane‐Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Gupta, Neerja, Kabra, Madhulika, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D

المصدر: American Journal of Medical Genetics Part A. 179(2)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Intellectual and Developmental Disabilities (IDD), Pediatric, Neurosciences, Congenital, Abnormalities, Multiple, Adolescent, Adult, Cell Cycle Proteins, Child, Child, Preschool, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Face, Female, Humans, Image Processing, Computer-Assisted, Infant, Infant, Newborn, Intellectual Disability, Male, Mutation, Phenotype, Racial Groups, Young Adult, CdLS, Cornelia de Lange syndrome, diverse populations, facial analysis technology, NIPBL, underrepresented minorities, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6w35196fTest

المؤلفون: Peluso, Francesca, Caraffi, Stefano Giuseppe, Contrò, Gianluca, Valeri, Lara, Napoli, Manuela, Carboni, Giorgia, Seth, Alka, Zuntini, Roberta, Coccia, Emanuele, Astrea, Guja, Bisgaard, Anne-Marie, Ivanovski, Ivan, Maitz, Silvia, Brischoux-Boucher, Elise, Carter, Melissa T, Dentici, Maria Lisa, Devriendt, Koenraad, Bellini, Melissa, Digilio, Maria Cristina, Doja, Asif, Dyment, David A, Farholt, Stense, Ferreira, Carlos R, Wolfe, Lynne A, Gahl, William A, Gnazzo, Maria, Goel, Himanshu, Weller Grønborg, Sabine, Hammer, Trine, Iughetti, Lorenzo

المصدر: Peluso, Francesca; Caraffi, Stefano Giuseppe; Contrò, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A; Farholt, Stense; Ferreira, Carlos R; Wolfe, Lynne A; Gahl, William A; Gnazzo, Maria; Goel, Himanshu; Weller Grønborg, Sabine; Hammer, Trine; Iughetti, Lorenzo; et al (2023). Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature. Journal of Medical Genetics, 60(12):1224-1234.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics (clinical), Genetics, Congenital, Hereditary, Neonatal Diseases, Neonatal Abnormalities, Genetic Research, Pathological Conditions, Pathological Signs, Pathological Symptoms, Patient Care, Radiology

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/235671/1/ZORA_jmg_2023_109141_full.pdfTest; info:pmid/37586838; urn:issn:0022-2593

الإتاحة: https://doi.org/10.5167/uzh-23567110.1136/jmg-2023-109141Test
https://www.zora.uzh.ch/id/eprint/235671Test/
https://www.zora.uzh.ch/id/eprint/235671/1/ZORA_jmg_2023_109141_full.pdfTest

المؤلفون: Unger, Sheila, Ferreira, Carlos R, Mortier, Geert R, Ali, Houda, Bertola, Débora R, Calder, Alistair, Cohn, Daniel H, Cormier-Daire, Valerie, Girisha, Katta M, Hall, Christine, Krakow, Deborah, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen P, Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V Reid, Warman, Matthew L, Superti-Furga, Andrea

المساهمون: Genetica Klinische Genetica

مصطلحات موضوعية: Genetics(clinical), Genetics, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/448570Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/448570Test

المؤلفون: Loong, Lucy, Tardivo, Agostina, Knaus, Alexej, Hashim, Mona, Pagnamenta, Alistair T, Alt, Kerstin, Böhrer-Rabel, Helena, Caro-Llopis, Alfonso, Cole, Trevor, Distelmaier, Felix, Edery, Patrick, Ferreira, Carlos R, Jezela-Stanek, Aleksandra, Kerr, Bronwyn, Kluger, Gerhard, Krawitz, Peter M, Kuhn, Marius, Lemke, Johannes R, Lesca, Gaetan, Lynch, Sally Ann, Martinez, Francisco, Maxton, Caroline, Mierzewska, Hanna, Monfort, Sandra, Nicolai, Joost, Orellana, Carmen, Pal, Deb K, Płoski, Rafał, Quarrell, Oliver W, Rosello, Monica, Rydzanicz, Małgorzata, Sabir, Ataf, Śmigiel, Robert, Stegmann, Alexander P A, Stewart, Helen, Stumpel, Constance, Szczepanik, Elżbieta, Tzschach, Andreas, Wolfe, Lynne, Taylor, Jenny C, Murakami, Yoshiko, Kinoshita, Taroh, Bayat, Allan, Kini, Usha

المصدر: Loong , L , Tardivo , A , Knaus , A , Hashim , M , Pagnamenta , A T , Alt , K , Böhrer-Rabel , H , Caro-Llopis , A , Cole , T , Distelmaier , F , Edery , P , Ferreira , C R , Jezela-Stanek , A , Kerr , B , Kluger , G , Krawitz , P M , Kuhn , M , Lemke , J R , Lesca , G , Lynch , S A , Martinez , F , Maxton , C , Mierzewska , H , Monfort , ....

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/0865c15c-1733-4b9c-81a1-56294ecd0a71Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.007Test
https://cris.maastrichtuniversity.nl/en/publications/0865c15c-1733-4b9c-81a1-56294ecd0a71Test

المؤلفون: Peluso, Francesca, Caraffi, Stefano G, Contrò, Gianluca, Valeri, Lara, Napoli, Manuela, Carboni, Giorgia, Seth, Alka, Zuntini, Roberta, Coccia, Emanuele, Astrea, Guja, Bisgaard, Anne-Marie, Ivanovski, Ivan, Maitz, Silvia, Brischoux-Boucher, Elise, Carter, Melissa T, Dentici, Maria Lisa, Devriendt, Koenraad, Bellini, Melissa, Digilio, Maria Cristina, Doja, Asif, Dyment, David A, Farholt, Stense, Ferreira, Carlos R, Wolfe, Lynne A, Gahl, William A, Gnazzo, Maria, Goel, Himanshu, Grønborg, Sabine Weller, Hammer, Trine, Iughetti, Lorenzo, Kleefstra, Tjitske, Koolen, David A, Lepri, Francesca Romana, Lemire, Gabrielle, Louro, Pedro, McCullagh, Gary, Madeo, Simona F, Milone, Annarita, Milone, Roberta, Nielsen, Jens Erik Klint, Novelli, Antonio, Ockeloen, Charlotte W, Pascarella, Rosario, Pippucci, Tommaso, Ricca, Ivana, Robertson, Stephen P, Sawyer, Sarah, Falkenberg Smeland, Marie, Stegmann, Sander, Stumpel, Constanze T, Garavelli, Livia

المصدر: Peluso , F , Caraffi , S G , Contrò , G , Valeri , L , Napoli , M , Carboni , G , Seth , A , Zuntini , R , Coccia , E , Astrea , G , Bisgaard , A-M , Ivanovski , I , Maitz , S , Brischoux-Boucher , E , Carter , M T , Dentici , M L , Devriendt , K , Bellini , M , Digilio , M C , Doja , A , Dyment , D A , Farholt , S , Ferreira , C R , Wolfe ....

مصطلحات موضوعية: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Research, Pathological Conditions, Signs and Symptoms, Patient Care, Radiology

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/8af1c7c8-f710-4e0b-a8b9-0d0306e8f640Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109141Test
https://cris.maastrichtuniversity.nl/en/publications/8af1c7c8-f710-4e0b-a8b9-0d0306e8f640Test

المؤلفون: Schumann, Anke, Schultheiß, Ulla Teresa, Ferreira, Carlos R., Blau, Nenad

المصدر: Molecular genetics and metabolism. - 140, 3 (2023) , 107683, ISSN: 1096-7206

وصف الملف: pdf

العلاقة: https://freidok.uni-freiburg.de/data/238856Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2023.107683Test
https://freidok.uni-freiburg.de/data/238856Test
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2388563Test
https://freidok.uni-freiburg.de/dnb/download/238856Test

المؤلفون: Paganini, Chiara, Carroll, Ricki S., Gramegna Tota, Chiara, Schelhaas, Andrea J., Leone, Alessandra, Duker, Angela L., O'Connell, David A., Coghlan, Ryan F., Johnstone, Brian, Ferreira, Carlos R., Peressini, Sabrina, Albertini, Riccardo, Forlino, Antonella, Bonafé, Luisa, Campos-Xavier, Ana Belinda, Superti-Furga, Andrea, Zankl, Andreas, Rossi, Antonio, Bober, Michael B.

المصدر: Student Papers, Posters & Projects

مصطلحات موضوعية: biomarker, collagen X, diastrophic dysplasia, glycosaminoglycan, sulfation, urine, Medicine and Health Sciences, Musculoskeletal Diseases, Physiotherapy

وصف الملف: text/html

العلاقة: https://jdc.jefferson.edu/student_papers/114Test; https://jdc.jefferson.edu/context/student_papers/article/1115/type/native/viewcontent/REF_ID_4858.pdfTest; https://jdc.jefferson.edu/context/student_papers/article/1115/filename/0/type/additional/viewcontent/1_s2.0_S8756328223001710_mmc1.docxTest

الإتاحة: https://jdc.jefferson.edu/student_papers/114Test
https://jdc.jefferson.edu/context/student_papers/article/1115/type/native/viewcontent/REF_ID_4858.pdfTest
https://jdc.jefferson.edu/context/student_papers/article/1115/filename/0/type/additional/viewcontent/1_s2.0_S8756328223001710_mmc1.docxTest