Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Vijayalakshmi Salem Ramakumaran"'
Autor:
Laura, Powell, Eric, Olinger, Sarah, Wedderburn, Vijayalakshmi Salem, Ramakumaran, Usha, Kini, Jill, Clayton-Smith, Simon C, Ramsden, Sarah J, Rice, Miguel, Barroso-Gil, Ian, Wilson, Lorraine, Cowley, Sally, Johnson, Elizabeth, Harris, Tara, Montgomery, Marta, Bertoli, Eugen, Boltshauser, John A, Sayer
Publikováno v:
Brain Communications
Paediatric neurology syndromes are a broad and complex group of conditions with a large spectrum of clinical phenotypes. Joubert syndrome is a genetically heterogeneous neurological ciliopathy syndrome with molar tooth sign as the neuroimaging hallma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f73dfcfef91e4ec8be8f3f7a99094043
https://pubmed.ncbi.nlm.nih.gov/34423300
https://pubmed.ncbi.nlm.nih.gov/34423300
Autor:
Sarah Wedderburn, Miguel Barroso-Gil, Laura Powell, Lorraine Cowley, Jill Clayton-Smith, John A. Sayer, Eric Olinger, Ian D. Wilson, Marta Bertoli, Eugen Boltshauser, Simon C Ramsden, Tara Montgomery, Sarah J. Rice, Usha Kini, Elizabeth Harris, Vijayalakshmi Salem Ramakumaran, Sally Johnson
Publikováno v:
Brain Communications. 3
Paediatric neurology syndromes are a broad and complex group of conditions with a large spectrum of clinical phenotypes. Joubert syndrome is a genetically heterogeneous neurological ciliopathy syndrome with molar tooth sign as the neuroimaging hallma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::719f50fc5b79f896741b31a28c7f76b8
https://doi.org/10.1093/braincomms/fcab163
https://doi.org/10.1093/braincomms/fcab163
Autor:
Henry Houlden, David A. Sweetser, Hesham Aldhalaan, Barry J. Byrne, Bruria Ben-Zeev, Gabriela M. Repetto, Bernt Popp, Yasemin Dincer, Karima Maher, Reza Maroofian, Omar Ismayl, Fowzan S. Alkuraya, Susanna Schubert, Wen-Hann Tan, Jens Meiler, Usha Kini, Parul Jayakar, Fatima Khan, Darius Ebrahimi-Fakhari, Stephanie Efthymiou, Gehad ElGhazali, Mais Hashem, Vijayalakshmi Salem Ramakumaran, Volker Mall, Robert J. Graham, Bat El Bar-Aluma, Maria Cecilia Poli, Rami Abou Jamra, Barbara Brechmann, Asma E. Al Nuaimi, Gali Heimer, Sonja Neuser, Amir Szeinberg, Ines Brösse, Christian Behrends, Angelika Seitz, Mandy Krumbiegel, Jennifer E. Posey, Amal Al Tenaiji, Lauren O’Grady, Michael Zech, Siddharth Srivastava, James R. Lupski, Basil T. Darras, Isabella Herman, Alistair T. Pagnamenta, Juliane Winkelmann, Shahnaz Ibrahim, Yael Haberman, Tatiana Muñoz
PURPOSEBi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework for t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7debe78904c5d1bb78a6c6b3d6d0964
https://mediatum.ub.tum.de/doc/1625236/document.pdf
https://mediatum.ub.tum.de/doc/1625236/document.pdf
Publikováno v:
American Journal of Medical Genetics Part A. 176:219-224
We report a family of Indian origin presenting with Tarsal-carpal coalition syndrome (TCC), which is a rare genetic disorder of skeletal abnormalities, inherited in autosomal dominant manner. In this family, three individuals (mother and two children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e03f9494c76016a90d2b39b411286fc
https://doi.org/10.1002/ajmg.a.38544
https://doi.org/10.1002/ajmg.a.38544