Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Dhanya Lakshmi Narayanan"'
Autor:
Michelle C. do Rosario, Greeshma Purushothama, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Katta Mohan Girisha, Anju Shukla
Publikováno v:
Clinical Dysmorphology. 32:112-115
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d43ff2583248396b384590283e9d1d51
https://doi.org/10.1097/mcd.0000000000000452
https://doi.org/10.1097/mcd.0000000000000452
Autor:
Dhanya Lakshmi Narayanan, José Rivera Alvarez, Peggy Tilly, Michelle C. do Rosario, Vivekananda Bhat, Juliette D. Godin, Anju Shukla
Publikováno v:
Journal of Human Genetics. 67:729-733
Kinesin Family Member 21B (KIF21B) encoded by KIF21B (MIM*608322), belongs to the Kinesin superfamily proteins, which play a key role in microtubule organisation in neuronal dendrites and axons. Recently, heterozygous variants in KIF21B were implicat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc50fb164b2cacccbfe1f40720bd5e43
https://doi.org/10.1038/s10038-022-01087-0
https://doi.org/10.1038/s10038-022-01087-0
Autor:
Purvi Majethia, Rhea Harish, Dhanya Lakshmi Narayanan, Yatheesha B L, Suvasini Sharma, Anju Shukla
Publikováno v:
Clinical Dysmorphology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf78b2c6daf1c1b11638b032f1b216d1
https://doi.org/10.1097/mcd.0000000000000463
https://doi.org/10.1097/mcd.0000000000000463
Autor:
Chiara Klöckner, J Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg-Didinger, Leila Motlagh Scholle, Somayeh Bakhtiari, Michael C Kruer, Hossein Darvish, Saghar Ghasemi Firouzabadi, Alex Pagnozzi, Anju Shukla, Katta Mohan Girisha, Dhanya Lakshmi Narayanan, Parneet Kaur, Reza Maroofian, Maha S Zaki, Mahmoud M Noureldeen, Andreas Merkenschlager, Janina Gburek-Augustat, Elisa Cali, Selina Banu, Kamrun Nahar, Stephanie Efthymiou, Henry Houlden, Rami Abou Jamra, Jason Williams, Christopher R McMaster, Konrad Platzer
Publikováno v:
Brain
The Kennedy pathways catalyse the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, the most abundant components of eukaryotic cell membranes. In recent years, these pathways have moved into clinical focus because four of ten gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6bafae1ef1abf0055fba256b4eba891
https://doi.org/10.1093/brain/awac074
https://doi.org/10.1093/brain/awac074
Publikováno v:
Clin Dysmorphol
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM# 611726) is a rare autosomal recessive condition associated with pathogenic variants in KCTD7, which encodes the BR-C,ttk and bab/pox virus and zinc finger domain-contai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ff401db7e26cd91a5364d89d8a562ae
https://doi.org/10.1097/mcd.0000000000000394
https://doi.org/10.1097/mcd.0000000000000394
Autor:
Aroor Shrikiran, Dhanya Lakshmi Narayanan, Purvi Majethia, Y. Ramesh Bhat, Lakshmi Priya Rao, Anju Shukla, Michelle C. do Rosario, Shruti Pande, Stephanie L. Bielas, Narayanaswamy Suresh, Puneeth H. Somashekar, Suvasini Sharma, Sheela Nampoothiri, Katta M. Girisha, Divya Udyawar, Parneet Kaur, Neethukrishna Kausthubham
Publikováno v:
European Journal of Human Genetics
Multilocus disease-causing genomic variations (MGVs) and multiple genetic diagnoses (MGDs) are increasingly being recognised in individuals and families with Mendelian disorders. This can be mainly attributed to the widespread use of genomic tests fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de249a566e22c5f241aca1ec053af473
https://doi.org/10.1038/s41431-021-00933-7
https://doi.org/10.1038/s41431-021-00933-7
Publikováno v:
Indian Pediatrics. 58:771-774
Exome sequencing is gaining popularity as a genomic test for the diagnosis of Mendelian disorders in children. It is essential for pediatricians to familiarize themselves with this technique and its interpretation. This brief review discusses some of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d6e194c2a205cf91a29ba7878fc9d68
https://doi.org/10.1007/s13312-021-2289-0
https://doi.org/10.1007/s13312-021-2289-0
Autor:
Nutan Kamath, Dhanya Lakshmi Narayanan, Puneeth H. Somashekar, Priyanka Upadhyai, Shruti Bajaj, Katta M. Girisha, Anju Shukla
Publikováno v:
American Journal of Medical Genetics Part A. 182:2951-2958
Waardenburg syndrome subtypes 1 and 3 are caused by pathogenic variants in PAX3. We investigated 12 individuals from four unrelated families clinically diagnosed with Waardenburg syndrome type 1/3. Novel pathogenic variants identified in PAX3 include
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9006dbb6391377395e1141bfa05eeba7
https://doi.org/10.1002/ajmg.a.61893
https://doi.org/10.1002/ajmg.a.61893
Publikováno v:
Indian Pediatrics. 57:549-554
Chromosomal microarray and Next-generation sequencing are two widely used genomic tests that have improved the diagnosis of children with a genetic condition. Chromosomal microarray has become a first-tier test in evaluating children with intellectua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d12ce1465cb2f62afcd976c1ebfe1505
https://doi.org/10.1007/s13312-020-1853-3
https://doi.org/10.1007/s13312-020-1853-3
Autor:
Reza Maroofian, Henry Houlden, Jess Williams, Maha S. Zaki, Andreas Merkenschlager, M. M. Noureldeen, Konrad Platzer, H. Darvish, Christopher R. McMaster, C. Kloeckner, Saghar Ghasemi Firouzabadi, Michael C. Kruer, Somayeh Bakhtiari, S. H. Banu, M. Tavasoli, J. P. Fernandez Murray, Heinrich Sticht, Anju Shukla, Parneet Kaur, Dhanya Lakshmi Narayanan, A. Pagnozzi, E. Cali, R. Abou Jamra, L. Scholle, Janina Gburek-Augustat, K. Nahar, Katta M. Girisha, Stephanie Efthymiou, G. Stoltenburg-Didinger
The Kennedy pathways catalyze the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, the most abundant components of eukaryotic cell membranes. In recent years, these pathways have moved into clinical focus since four out of ten g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36c712d78b7f875e7be6b2605ff742ae
https://doi.org/10.1101/2021.10.21.21265050
https://doi.org/10.1101/2021.10.21.21265050
