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Sohail Paracha
Sohail Paracha
Professor of Anatomy,Khyber Medical university institute of Medical Sciences,Kohat
Verified email at kmu.edu.pk
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Cited by
Cited by
Year
De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects
A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ...
The American Journal of Human Genetics 107 (2), 311-324, 2020
432020
Epidemiology of cutaneous leishmaniasis outbreak, Waziristan, Pakistan
M Hussain, S Munir, TA Khan, A Khan, S Ayaz, MA Jamal, I Ahmed, S Aziz, ...
Emerging infectious diseases 24 (1), 159, 2018
422018
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental …
M Ansar, F Ebstein, H Özkoç, SA Paracha, J Iwaszkiewicz, M Gesemann, ...
Human molecular genetics 29 (7), 1132-1143, 2020
402020
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency
M Ansar, E Ranza, M Shetty, SA Paracha, M Azam, I Kern, J Iwaszkiewicz, ...
Human molecular genetics 29 (4), 618-623, 2020
352020
Bi-allelic variants in IQSEC1 cause intellectual disability, developmental delay, and short stature
M Ansar, H Chung, A Al-Otaibi, MN Elagabani, TA Ravenscroft, ...
The American Journal of Human Genetics 105 (5), 907-920, 2019
292019
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
M Ansar, S Riazuddin, MT Sarwar, P Makrythanasis, SA Paracha, Z Iqbal, ...
Genetics in Medicine 20 (7), 778-784, 2018
262018
Bi-allelic variants in DYNC1I2 cause syndromic microcephaly with intellectual disability, cerebral malformations, and dysmorphic facial features
M Ansar, F Ullah, SA Paracha, DJ Adams, A Lai, L Pais, J Iwaszkiewicz, ...
The American Journal of Human Genetics 104 (6), 1073-1087, 2019
232019
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature
M Ansar, SA Paracha, A Serretti, MT Sarwar, J Khan, E Ranza, ...
Human molecular genetics 28 (6), 972-979, 2019
232019
Anatomical variations of cystic duct encountered during open cholecystectomy
AS Khan, SA Paracha, Z Shah, M Tahir, K Wahab
Khyber Medical University Journal 4 (1), 19-22, 2012
152012
FOXI3 pathogenic variants cause one form of craniofacial microsomia
K Mao, C Borel, M Ansar, A Jolly, P Makrythanasis, C Froehlich, ...
Nature Communications 14 (1), 2026, 2023
112023
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder
F Mattioli, H Darvish, SA Paracha, A Tafakhori, SG Firouzabadi, M Chapi, ...
NPJ Genomic Medicine 6 (1), 94, 2021
112021
Outcome of open versus closed surgical technique for treatment of chronic pilonidal sinus: a randomized controlled trial
STA Shah, M Tahir, M Nasir, SA Paracha, K Wahab
Khyber Med Univ J 5, 146-151, 2013
102013
OUTCOME OF DARN REPAIR WITH POLYPROPYLENE FOR PRIMARY INGUINAL HERNIA: AN EXPERIENCE OF 837 CASES.
M Nasir, SA Paracha, I Ali Khan, M Tahir, K Wahab
Khyber Medical University Journal 5 (1), 2013
92013
Delineating the spectrum of genetic variants associated with Bardet-Biedl syndrome in consanguineous Pakistani pedigrees
AR Rao, A Nazir, S Imtiaz, SA Paracha, YM Waryah, ID Ujjan, I Anwar, ...
Genes 14 (2), 404, 2023
72023
Luminal diameters of major coronary arteries
QW Ullah, S Saleem, N Asim, SA Paracha
Journal of Rawalpindi Medical College (JRMC) 17 (1), 11-13, 2013
42013
Satisfaction of the pre-clinical students regarding current anatomy curriculum and anatomy teachers of KUST Institute of Medical Sciences (KIMS), Kohat
SA Paracha, AS Khan, Z Shah, K Wahab
KHYBER MEDICAL UNIVERSITY JOURNAL 3 (2), 45-51, 2011
42011
Biallelic variants in seven different genes Associated with clinically suspected Bardet–Biedl Syndrome
H Nawaz, Mujahid, SA Khan, F Bibi, A Waqas, A Bari, Fardous, N Khan, ...
Genes 14 (5), 1113, 2023
32023
Drug-Resistant Proteus Virulence Factors Characterization and Their Inhibition Using Probiotic Bacteria
S Zaman, W Ullah, M Qasim, NU Akbar, I Muhammad, SA Paracha, ...
Jundishapur Journal of Microbiology 15 (10), 2022
22022
ROLE OF ILEOSTOMY IN THE MANAGEMENT OF LATE CASES OF TYPHOID INTESTINAL PERFORATION.
M Tahir, QT Uddin, F Ahmed, SA Paracha, N Batool
Khyber Medical University Journal 4 (3), 2012
22012
Gross pyuric diabetics with uncontrolled glycemia: Pattern of pathogenic organisms and antimicrobial susceptibility
SF Shah, P SA
Khyber Med Univ J 8 (4), 189-93, 2016
12016
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