المؤلفون: Harris, Michael S. (ORCID 0000-0003-0389-6343), Moberly, Aaron C., Hamel, Ben L., Vasil, Kara (ORCID 0000-0001-7458-5177), Runge, Christina L., Riggs, William J., Shafiro, Valeriy (ORCID 0000-0002-5722-748X)

المصدر: Journal of Speech, Language, and Hearing Research. Mar 2021 64(3):1040-1052.

تمت مراجعته من قبل الزملاء: Y

Page Count: 13

Sponsoring Agency: National Institute on Deafness and Other Communication Disorders (NIDCD)

الواصفات: Deafness, Hearing Impairments, Adults, Assistive Technology, Acoustics, Recognition (Psychology), Auditory Stimuli, Auditory Perception

المؤلفون: Damji, Rahim Karim, Alimohamed, Mohamed Zahir, Claahsen-Van der Grinten, Hedi L., Westra, Dineke, Hamel, Ben

المصدر: Damji , R K , Alimohamed , M Z , Claahsen-Van der Grinten , H L , Westra , D & Hamel , B 2023 , ' Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father ' , Endocrinology, Diabetes and Metabolism Case Reports , vol. 2023 , no. 2 , 22-0384 . https://doi.org/10.1530/EDM-22-0384Test

مصطلحات موضوعية: Paediatric, Male, Black - African, Tanzania, United Republic of, Adrenal, Unique/unexpected symptoms or presentations of a disease

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/2a92e699-2c94-47b4-851f-088fb23f8186Test

الإتاحة: https://doi.org/10.1530/EDM-22-0384Test
https://hdl.handle.net/11370/2a92e699-2c94-47b4-851f-088fb23f8186Test
https://research.rug.nl/en/publications/2a92e699-2c94-47b4-851f-088fb23f8186Test
https://pure.rug.nl/ws/files/819286326/Novel_likely_pathogenic_variant_in_NR5A1_gene_in_a_Tanzanian_child_with_46_XY_differences_of_sex_development_inherited_from_the_mosaic_father.pdfTest
http://www.scopus.com/inward/record.url?scp=85159829955&partnerID=8YFLogxKTest

المؤلفون: Alimohamed, Mohamed Zahir, Mwakilili, Aneth David, Mbwanji, Kenneth, Manji, Zainab Karim, Kaywang, Frida, Mwaikono, Kilaza Samson, Adolf, Ismael, Makani, Julie, Hamel, Ben, Masimirembwa, Collen, Ishengoma, Deus Simon, Nkya, Siana

المصدر: Alimohamed , M Z , Mwakilili , A D , Mbwanji , K , Manji , Z K , Kaywang , F , Mwaikono , K S , Adolf , I , Makani , J , Hamel , B , Masimirembwa , C , Ishengoma , D S & Nkya , S 2021 , ' Inauguration of the Tanzania Society of Human Genetics : Biomedical Research in Tanzania with Emphasis on Human Genetics and Genomics ' , The American Society of Tropical Medicine and Hygiene , vol. 104 , no. 2 , pp. 474-477 . https://doi.org/10.4269/ajtmh.20-0861Test

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/e8d6573c-be2c-41f8-b18c-775e01c3fb40Test

الإتاحة: https://doi.org/10.4269/ajtmh.20-0861Test
https://hdl.handle.net/11370/e8d6573c-be2c-41f8-b18c-775e01c3fb40Test
https://research.rug.nl/en/publications/e8d6573c-be2c-41f8-b18c-775e01c3fb40Test
https://pure.rug.nl/ws/files/255261172/1476_1645_article_p474.pdfTest

المؤلفون: Damji, Rahim, Hamel, Ben, Binde, Yahya, Kassim, Kamaria

المصدر: Tanzania Journal of Health Research; Vol. 23 No. 2 (2022); 1-5

مصطلحات موضوعية: General Medicine, Holt-Oram syndrome, Heart-hand syndrome, Ventricular Septal defect, TBX5 gene

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7580e18c52120e035e4f337f3f8b055dTest
https://doi.org/10.4314/thrb.v23i2.9Test

المؤلفون: Dekker, Marieke C.J., Chengo, Rose, Kumburu, Happiness H., Kamsteeg, Erik-Jan, Hamel, Ben C.

مصطلحات موضوعية: Movement disorders, Medical genetics, Carbamazepine, Neurology

العلاقة: https://doi.org/10.7916/d8-7c5a-4h79Test

الإتاحة: https://doi.org/10.7916/d8-7c5a-4h79Test

المؤلفون: Chen, Yin-Huai, Grigelioniene, Giedre, Newton, Phillip T., Gullander, Jacob, Elfving, Maria, Hammarsjö, Anna, Batkovskyte, Dominyka, Alsaif, Hessa S., Kurdi, Wesam I.Y., Abdulwahab, Firdous, Shanmugasundaram, Veerabahu, Devey, Luke, Bacrot, Séverine, Brodszki, Jana, Huber, Celine, Hamel, Ben, Gisselsson, David, Papadogiannakis, Nikos, Jedrycha, Katarina, Gürtl-Lackner, Barbara, Chagin, Andrei S., Nishimura, Gen, Aschenbrenner, Dominik, Alkuraya, Fowzan S., Laurence, Arian, Cormier-Daire, Valérie, Uhlig, Holm H.

المساهمون: National Institute for Health Research, National Institute for Health Research Oxford Biomedical Research Centre, Stockholm County Council, Karolinska Institutet, Swedish Research Council, H.K.H. Kronprinsessan Lovisas Förening för Barnasjukvård/Stiftelsen Axel Tielmans minnesfond, Stiftelsen Sällskapet Barnavård, Stiftelsen Promobilia, Stiftelsen Frimurare Barnhuset i Stockholm, Russian Science Foundation, Science for Life Laboratory

المصدر: Journal of Experimental Medicine ; volume 217, issue 3 ; ISSN 0022-1007 1540-9538

الإتاحة: https://doi.org/10.1084/jem.20191306Test

المؤلفون: Mwasamwaja, Amos O, Mkwizu, Elifuraha W, Shao, Elichilia R, Kalambo, Clement F, Lyaruu, Isaack, Hamel, Ben C

المصدر: Oxford Medical Case Reports ; volume 2018, issue 7 ; ISSN 2053-8855

مصطلحات موضوعية: Infectious Diseases, Microbiology, Parasitology

الإتاحة: https://doi.org/10.1093/omcr/omy036Test
http://academic.oup.com/omcr/article-pdf/2018/7/omy036/27710660/omy036.pdfTest

المؤلفون: Mbwasi, Ronald M., Maugeri, Alessandra, Joel, Helvi N., Sadiq, Adnan, Ahmad, Bilal, Hamel, Ben CJ.

المصدر: European Journal of Medical Genetics ; volume 65, issue 11, page 104576 ; ISSN 1769-7212

مصطلحات موضوعية: Genetics (clinical), Genetics, General Medicine

الإتاحة: https://doi.org/10.1016/j.ejmg.2022.104576Test
https://api.elsevier.com/content/article/PII:S1769721222001574?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1769721222001574?httpAccept=text/plainTest

المؤلفون: Lodhia, Jay, Rego-Garcia, Iago, Koipapi, Sengua, Sadiq, Adnan, Msuya, David, Spaendonk, Resie Vervenne van, Hamel, Ben, Dekker, Marieke

المصدر: Lodhia , J , Rego-Garcia , I , Koipapi , S , Sadiq , A , Msuya , D , Spaendonk , R V V , Hamel , B & Dekker , M 2021 , ' Carpenter syndrome in a patient from Tanzania ' , American Journal of Medical Genetics, Part A , vol. 185 , no. 3 , pp. 986-989 . https://doi.org/10.1002/ajmg.a.62015Test

العلاقة: https://research.vumc.nl/en/publications/cad473f1-fa02-47ed-8c42-9d96a62ad782Test

الإتاحة: https://doi.org/10.1002/ajmg.a.62015Test
https://research.vumc.nl/en/publications/cad473f1-fa02-47ed-8c42-9d96a62ad782Test
http://www.scopus.com/inward/record.url?scp=85097984049&partnerID=8YFLogxKTest

المؤلفون: Harris, Michael S., Moberly, Aaron C., Hamel, Ben L., Vasil, Kara, Runge, Christina L., Riggs, William J., Shafiro, Valeriy

المصدر: J Speech Lang Hear Res

مصطلحات موضوعية: Hearing, psy, envir

العلاقة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8608242Test/

الإتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8608242Test/