Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Arya Shambhavi"'
Autor:
Haseena Sait, Somya Srivastava, Manmohan Pandey, Deepak Ravichandran, Anju Shukla, Kausik Mandal, Deepti Saxena, Arya Shambhavi, Purvi Majethia, Lakshmi Priya Rao, Suvasini Sharma, Shubha R. Phadke, Amita Moirangthem
Publikováno v:
neurogenetics. 24:113-127
Publikováno v:
American Journal of Medical Genetics Part A. 191:864-869
Publikováno v:
American Journal of Medical Genetics Part A. 185:982-985
Autor:
Suzena Masih, Amita Moirangthem, Arya Shambhavi, Archana Rai, Kausik Mandal, Deepti Saxena, Mayank Nilay, Neha Agrawal, Somya Srivastava, Haseena Sait, Shubha R. Phadke
Publikováno v:
European journal of medical genetics. 65(6)
Microcephaly is a frequent feature of neurodevelopmental disorders (NDDs). Our study presents the heterogeneous spectrum of genetic disorders in patients with microcephaly either in isolated form or in association with other neurological and extra-ne
Autor:
Mayank Nilay, Deepti Saxena, Suzena Masih, Shubha R. Phadke, Arya Shambhavi, Amita Moirangthem
Publikováno v:
Clinical dysmorphology. 31(2)
Inherited methylenetetrahydrofolate reductase (MTHFR) deficiency is associated with a wide spectrum of disorders including homocystinuria. This study aims to describe the neurological phenotypes and molecular profiles of patients with homocystinuria
Autor:
Priyanka Srivastava, Poonam Singh Gambhir, Neha Agrawal, Arya Shambhavi, Kausik Mandal, Sheela Nampoothiri, Deepti Saxena, Amita Moirangthem, Shubha R. Phadke
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(8)
Overgrowth, defined as height and/or OFC ≥ +2SD, characterizes a subset of patients with syndromic intellectual disability (ID). Many of the disorders with overgrowth and ID (OGID) are rare and the full phenotypic and genotypic spectra have not bee
Autor:
Krishna Sharan, Anju Shukla, Dong-Kyu Jin, Katta M. Girisha, Mary Mathew, Smrithi Salian, Hitesh Shah, Mohandas Nair, Arya Shambhavi, Sung Yoon Cho
Pycnodysostosis is an autosomal recessive skeletal dysplasia caused by pathogenic variants in the cathepsin K (CTSK) gene. We report seven patients from four unrelated families with this condition in whom we have identified three novel pathogenic var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a9d4d647ef438e381de6e38f62cc081
https://europepmc.org/articles/PMC5809170/
https://europepmc.org/articles/PMC5809170/