Zobrazeno 1 - 10
of 129
pro vyhledávání: '"Sadaf, Naz"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Hearing loss affects around 5% of the global population. Two preliminary studies have described genetic variants in sporadic individuals with hearing loss from Pakistan. Here we extend these studies to determine the spectrum of variants in a
Externí odkaz:
https://doaj.org/article/499c4c6f5b40489a89432874fd06b5a1
Autor:
Anum Shafique, Ayesha Nadeem, Faiza Aslam, Humera Manzoor, Muhammad Noman, Elizabeth Wohler, P. Dane Witmer, Nara Sobreira, Sadaf Naz
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Hereditary spastic paraplegias are a diverse group of degenerative disorders that are clinically categorized as isolated; with involvement of lower limb spasticity, or symptomatic, where spastic paraplegia is complicated by further neurologi
Externí odkaz:
https://doaj.org/article/5ad6abab609e438786c698a7b8b48346
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
Publikováno v:
BMC Psychiatry, Vol 22, Iss 1, Pp 1-10 (2022)
Abstract Background Psychiatric disorders are characterized by alteration in emotions, mood and behavior. Genetics is known to play a significant role in the development of psychiatric disorders. Genome-wide association studies have identified severa
Externí odkaz:
https://doaj.org/article/c99277dd33bd412d8464013280debfd7
Autor:
Mehran Kausar, Noor Ul Ain, Farzana Hayat, Hunain Fatima, Saad Azim, Hazrat Ullah, Murva Mushtaq, Sumbal Khalid, Shahid Hussain, Sadaf Naz, Jamal Janjua, Saad Bin Amjad, Ruqia Mehmood Baig, Outi Makitie, Raheel Qamar, Shiro Ikegawa, Nishimura Gen, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi
Publikováno v:
BMC Musculoskeletal Disorders, Vol 23, Iss 1, Pp 1-7 (2022)
Abstract Background Skeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal dysplasias comprise one subgroup. Deficiency of carbohydrate sulfotransferase 3 has been reported in a small number of patients with recessively inherite
Externí odkaz:
https://doaj.org/article/139e708906cd48b3870a0c41552da441
Autor:
Ambreen Kanwal, Sohail A. Sheikh, Faiza Aslam, Samina Yaseen, Zachary Beetham, Nathan Pankratz, Connie R. Clabots, Sadaf Naz, José V. Pardo
Publikováno v:
Genes, Vol 14, Iss 10, p 1921 (2023)
Psychosis is a severe mental disorder characterized by abnormal thoughts and perceptions (e.g., hallucinations) occurring quintessentially in schizophrenia and in several other neuropsychiatric disorders. Schizophrenia is widely considered as a neuro
Externí odkaz:
https://doaj.org/article/b54970be185845fd8549a4b9a1b88125
Autor:
Sadaf Naz, Sadia Alam, Waseem Ahmed, Shah Masaud Khan, Abdul Qayyum, Maimoona Sabir, Alia Naz, Asia Iqbal, Yamin Bibi, Sobia Nisa, Amany Salah Khalifa, Amal F. Gharib, Ahmad El Askary
Publikováno v:
Saudi Journal of Biological Sciences, Vol 29, Iss 2, Pp 941-954 (2022)
Salmonella enterica serovar Typhi is Gram negative, rod shaped, facultative anaerobic bacterium, belongs to enterobacteriaceae family that causes typhoid fever in humans. This bacterium has become a super bug due to acquisition of multi drug resistan
Externí odkaz:
https://doaj.org/article/9866abe8677e42e1ac8c64a8d1057272
Autor:
Sadaf Naz, khurshid Ahmad khan, Amina Umer, Muhammad Tabish Raza, Khalid Mehmood Nasir, Imtiaz Hussain
Publikováno v:
Pakistan Armed Forces Medical Journal, Vol 72, Iss 5 (2022)
Objective: To determine the frequency and pattern of thyroid dysfunction in patients with polycystic ovary syndrome. Study Design: Cross-sectional study. Place and Duration of Study: Department of Endocrinology, Jinnah Hospital, Lahore Pakistan
Externí odkaz:
https://doaj.org/article/adab04dd49c049c2b73816cd4eebfb65
Publikováno v:
BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-6 (2021)
Abstract Background Skeletal dysplasia is a heterogeneous group of disorders resulting from different genetic variants in humans. The current study was designed to identify the genetic causes of skeletal dysplasia and short stature in two consanguine
Externí odkaz:
https://doaj.org/article/9c88eab6dcac45cb8b18e2bb62c7254b
Publikováno v:
BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-6 (2021)
Abstract Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by s
Externí odkaz:
https://doaj.org/article/db102b169e99437e823fd41ebdfb4b67