Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Anna Mikhailov"'
Autor:
Hamid Khan, Ricardo Harripaul, Anna Mikhailov, Sumayah Herzi, Sonya Bowers, Muhammad Ayub, Muhammad Imran Shabbir, John B. Vincent
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract With its high rate of consanguineous marriages and diverse ethnic population, little is currently understood about the genetic architecture of autism spectrum disorder (ASD) in Pakistan. Pakistan has a highly ethnically diverse population, y
Externí odkaz:
https://doaj.org/article/c0a0fa5ec9c24957836e4148a61322bb
Autor:
Ansa Rabia, Ricardo Harripaul, Anna Mikhailov, Saqib Mahmood, Shazia Maqbool, John B. Vincent, Muhammad Ayub
Publikováno v:
Genes, Vol 13, Iss 9, p 1633 (2022)
The genetic dissection of autism spectrum disorders (ASD) has uncovered the contribution of de novo mutations in many single genes as well as de novo copy number variants. More recent work also suggests a strong contribution from recessively inherite
Externí odkaz:
https://doaj.org/article/ad01526d7bcd46dd88107c1325ade218
Autor:
Marija Orlic-Milacic, Liana Kaufman, Anna Mikhailov, Aaron Y L Cheung, Huda Mahmood, James Ellis, Peter J Gianakopoulos, Berge A Minassian, John B Vincent
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e91742 (2014)
Mutations in MECP2 are responsible for the majority of Rett syndrome cases. MECP2 is a regulator of transcription, and has two isoforms, MECP2_e1 and MECP2_e2. There is accumulating evidence that MECP2_e1 is the etiologically relevant variant for Ret
Externí odkaz:
https://doaj.org/article/fa0d3bbbc5564df8b31766cd213c8620
Autor:
Hadia Gul, Abdul Haleem Shah, Ricardo Harripaul, Anna Mikhailov, Ejaz Ullah Khan, Wasim Shah, Nisar Ahmad, John B Vincent, Muzammil Ahmad Khan
Publikováno v:
Pakistan Journal of Zoology. 54
Autor:
Ricardo Harripaul, Ansa Rabia, Nasim Vasli, Anna Mikhailov, Ashlyn Rodrigues, Stephen F. Pastore, Tahir Muhammad, Thulasi Thiruvallur Madanagopal, Aisha Hashmi, Clinton Tran, Cassandra Stan, Katherine Aw, Maleeha Azam, Saqib Mahmood, Abolfazl Heidari, Raheel Qamar, Leon French, Shreejoy Tripathy, Zehra Agha, Muhammad Iqbal, Majid Ghadami, Susan L. Santangelo, Bita Bozorgmehr, Laila Al Ayadhi, Roksana Sasanfar, Shazia Maqbool, James A. Knowles, Muhammad Ayub, John B Vincent
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects about 1 in 55 children worldwide, imposing enormous economic and socioemotional burden on families and communities. Genetic studies of ASD have identified de novo copy numbe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b1858ea2087bde6e2e7999a51e2412c7
https://doi.org/10.1101/2021.12.24.21268340
https://doi.org/10.1101/2021.12.24.21268340
Autor:
Anna Mikhailovskaya, Dmytro Vovchuk, Konstantin Grotov, Denis S. Kolchanov, Dmitry Dobrykh, Konstantin Ladutenko, Vjačeslavs Bobrovs, Alexander Powell, Pavel Belov, Pavel Ginzburg
Publikováno v:
Communications Engineering, Vol 2, Iss 1, Pp 1-8 (2023)
Abstract Creeping waves traveling around a volumetric electromagnetic scatterer provide a significant contribution to its radar cross-section. While quite a few efforts were devoted to suppressing creeping waves as a part of radar countermeasures, he
Externí odkaz:
https://doaj.org/article/e25698a0ef0f4e8e8295e5d351d9b15f
Autor:
Thulasi Madanogopal, Aisha Nasir Hashmi, Anna Mikhailov, Clinton Tran, Tahir Muhammad, Abolfazl Heidari, Nasim Vasli, John B. Vincent, Ashlyn Rodrigues, Ansa Rabia, Muhammad Ayub, Zehra Agha, Bita Bozorgmehr, Saqib Mahmood, Ricardo Harripaul
Publikováno v:
European Neuropsychopharmacology. 51:e200
Autor:
Rubina Dad, M. Jawad Hassan, Anna Mikhailov, John B. Vincent, Ricardo Harripaul, Humaira Aziz Sawal, Muhammad Ayub
Publikováno v:
Clinical Genetics. 90:563-565
(a) Homozygosity-mapping-by-descent of four Bhakkar congenital indifference/insensitivity to pain (CIP) families. (b) Identification of mutation Met1190* in SCN9A. (c) SCN9A/NaV1.7 2D structure (as predicted by CCTOP and SMART) and approximate positi
Autor:
Muhammad Zubair, Ricardo Harripaul, Farman Ullah, Saadullah Khan, Abdul Haleem Shah, Anna Mikhailov, Hadia Gul, Ejazullah Khan, Muhammad Zeeshan Ali, Said Salman, John B. Vincent, Kamalben Prajapati, Muzammil Ahmad Khan, Ayesha Haleem Shah
Publikováno v:
Annals of human genetics. 83(4)
Oculocutaneous albinism (OCA) is an autosomal-recessive disorder of a defective melanin pathway. The condition is characterized by hypopigmentation of hair, dermis, and ocular tissue. Genetic studies have reported seven nonsyndromic OCA genes, among
Autor:
Ricardo Harripaul, Anna Mikhailov, Muhammad Rafiq, Tanveer Nasr, Kayla Vleuten, John B. Vincent, Muhammad Jawad Hassan, Humaira Aziz Sawal, Muhammad Ayub, Farooq Naeem
Bilateral frontoparietal polymicrogyria (BFPP, MIM 606854) is a heterogeneous autosomal recessive disorder of abnormal cortical lamination, leading to moderate-to-severe intellectual disability (ID), seizure disorder, and motor difficulties, and caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8daceee2fef3d4f2b12e9c0793b36137
https://europepmc.org/articles/PMC5916802/
https://europepmc.org/articles/PMC5916802/