Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Tayyaba Ishaq"'
Publikováno v:
Carbon Capture Science & Technology, Vol 13, Iss , Pp 100260- (2024)
In this study, mixed-matrix membranes (MMMs) were fabricated using a composite of UiO-66 and polyaniline (PANI) integrated into a polyether-block-amide (PEBAX) matrix. The successful synthesis of the UiO-66 and PANI@UiO-66 composites and their incorp
Externí odkaz:
https://doaj.org/article/c073e095b3f94281a93961395fe306fb
Publikováno v:
BMC Musculoskeletal Disorders, Vol 24, Iss 1, Pp 1-11 (2023)
Abstract Background Multicentric osteolysis nodulosis and arthropathy (MONA) is a rare autosomal recessive disorder characterized by marked progressive bone loss and joint destruction resulting in skeletal deformities. MONA is caused by MMP2 deficien
Externí odkaz:
https://doaj.org/article/a34734d47874464f97360383e2bdca7e
Autor:
Madeline Louise Reilly, Noor ul Ain, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, Wolfgang Högler, Maarten F. C. M. Knapen, Myrthe van den Born, Sophie Saunier, Sadaf Naz, Valérie Cormier‐Daire, Alexandre Benmerah, Outi Makitie
Publikováno v:
Journal of Bone and Mineral Research, 37(9), 1642-1652. Wiley-Blackwell
Journal of Bone and Mineral Research
Journal of Bone and Mineral Research, In press, ⟨10.1002/jbmr.4639⟩
Journal of Bone and Mineral Research
Journal of Bone and Mineral Research, In press, ⟨10.1002/jbmr.4639⟩
Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in severity from lethal to mild phenotypes. This study aimed to underpin the genetic cause of skeletal dysplas
Autor:
null Madeline Louise Reilly, null Noor ul Ain, null Mari Muurinen, null Alice Tata, null Céline Huber, null Marleen Simon, null Tayyaba Ishaq, null Nick Shaw, null Salla Rusanen, null Minna Pekkinen, null Wolfgang Högler, null Maarten F. C. M. Knapen, null Myrthe van den Born, null Sophie Saunier, null Sadaf Naz, null Valérie Cormier‐Daire, null Alexandre Benmerah, null Outi Makitie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc93c9e5afd7d9167ca76346838e2f51
https://doi.org/10.1002/jbmr.4639/v3/response1
https://doi.org/10.1002/jbmr.4639/v3/response1
Autor:
Alice Costantini, Ola Nilsson, Tayyaba Ishaq, Noor Ul Ain, Fulya Taylan, Sadaf Naz, Marta Baroncelli, Outi Mäkitie
BackgroundStudies exploring molecular mechanisms underlying congenital skeletal disorders have revealed novel regulators of skeletal homeostasis and shown protein glycosylation to play an important role.ObjectiveTo identify the genetic cause of rhizo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7337b632d48e8bbc69b2e9744bfaefd5
http://hdl.handle.net/10138/331902
http://hdl.handle.net/10138/331902
Autor:
Noor Ul, Ain, Marta, Baroncelli, Alice, Costantini, Tayyaba, Ishaq, Fulya, Taylan, Ola, Nilsson, Outi, Mäkitie, Sadaf, Naz
Publikováno v:
Journal of medical genetics. 58(5)
Studies exploring molecular mechanisms underlying congenital skeletal disorders have revealed novel regulators of skeletal homeostasis and shown protein glycosylation to play an important role.To identify the genetic cause of rhizomelic skeletal dysp
Publikováno v:
European Journal of Medical Genetics. 63:103755
BBS7 and RIN2 variants cause Bardet Biedl syndrome and RIN2 syndrome respectively. We investigated a consanguineous family in which five individuals manifested different phenotypes. Whole-exome sequencing analyses of the individual with multiple phen
Autor:
Sana, Akhtar, Rida, Fatima, Tayyaba, Ishaq, Masooma, Mehmood, Ayesha, Zulfqar, Kalsoom, Akhtar
Publikováno v:
Ethiopian Journal of Health Sciences; Jan2020, Vol. 30 Issue 1, p135-142, 8p