logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
delete
arrow
返回
S

Sulman Basit

Taibah University

28H指数
175论文数
3.3K被引数
收录论文 43
发表时间
logo
Genetics of osteopetrosis: Molecular insights and clinical implications骨质疏松症的遗传学：分子见解与临床意义
errJournal of Musculoskeletal Surgery and Research
IF0
err2026-01-01
err0
PREAI
errBasit, Sulman; Khoshhal, Khalid I.
err分享
err收藏
FGF12-Related Early-Onset Epileptic Encephalopathies: Therapeutic Response to Sodium Channel BlockersFGF12相关性早发型癫痫性脑病：对钠通道阻滞剂的疗效反应
errAmerican Journal of Medical Genetics Part A
IF1.7
err2026-01-01
err0
PREAI
errAldurayhim, Fatimah; Basit, Sulman; Bashir, Shahid; Housawi, Yousef Hussain; Mir, Ali
err分享
err收藏
A clinical and genotype-phenotype analysis of MACF1 variantsMACF1变异的临床与基因型-表型分析
errThe American Journal of Human Genetics
IF0
err2025-09-08
err0
PREAI
errJordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini
err分享
err收藏
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48作者更正：CIB2钙离子和整合素结合蛋白的变异导致Usher综合征1J型和DFNB48非综合征性耳聋
errNature Genetics
IF0
err2025-08-26
err0
PREAI
errSaima Riazuddin; Inna A. Belyantseva; Arnaud P. J. Giese; Kwanghyuk Lee; Artur A. Indzhykulian; Sri Pratima Nandamuri; Rizwan Yousaf; Ghanshyam P. Sinha; Sue Lee; David Terrell; Rashmi S. Hegde; Rana A. Ali; Saima Anwar; Paula B. Andrade-Elizondo; Asli Sirmaci; Leslie V. Parise; Sulman Basit; Abdul Wali; Muhammad Ayub; Muhammad Ansar; Wasim Ahmad; Shaheen N. Khan; Javed Akram; Mustafa Tekin; Sheikh Riazuddin; Tiffany Cook; Elke K. Buschbeck; Gregory I. Frolenkov; Suzanne M. Leal; Thomas B. Friedman; Zubair M. Ahmed
err分享
err收藏
A programmed decline in ribosome levels governs human early neurodevelopment程序性核糖体水平下降调控人类早期神经发育
errNature Cell Biology
IF19.1
err2025-08-04
err0
errOAAI
errChunyang Ni; Yudong Wei; Barbara Vona; Dayea Park; Yulei Wei; Daniel A. Schmitz; Yi Ding; Masahiro Sakurai; Emily Ballard; Leijie Li; Yan Liu; Ashwani Kumar; Chao Xing; Shenlu Qin; Sangin Kim; Martina Foglizzo; Jianchao Zhao; Hyung-Goo Kim; Cumhur Ekmekci; Ehsan Ghayoor Karimiani; Shima Imannezhad; Fatemeh Eghbal; Reza Shervin Badv; Eva Maria Christina Schwaibold; Mohammadreza Dehghani; Mohammad Yahya Vahidi Mehrjardi; Zahra Metanat; Hosein Eslamiyeh; Ebtissal Khouj; Saleh Mohammed Nasser Alhajj; Aziza Chedrawi; Khushnooda Ramzan; Jamil A. Hashmi; Majed M. Alluqmani; Sulman Basit; Danai Veltra; Nikolaos M. Marinakis; Georgios Niotakis; Pelagia Vorgia; Christalena Sofocleous; Hane Lee; Won Chan Jeong; Muhammad Umair; Muhammad Bilal; César Augusto Pinheiro Ferreira Alves; Matthew Sieber; Michael Kruer; Henry Houlden; Fowzan S. Alkuraya; Elton Zeqiraj; Roger A. Greenberg; Can Cenik; Leqian Yu; Reza Maroofian; Jun Wu; Michael Buszczak
err分享
err收藏
Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi familiesZellweger综合征; 沙特家庭中PEX19和PEX26基因突变的鉴定
errANNALS OF MEDICINE
IF4.3
err2025-01-06
err0
errOAAI
errAlayoubi, Abdulfatah M.; Ijaz, Ambreen; Wali, Abdul; Hashmi, Jamil A.; Alharbi, Azizah; Basit, Sulman
err分享
err收藏
Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2024-07-21
err0
errOAAI
errAlmatrafi, Ahmad M.; Alayoubi, Abdulfatah M.; Alluqmani, Majed; Hashmi, Jamil A.; Basit, Sulman
err分享
err收藏
Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women
errBIOMEDICINES
IF3.9
err2024-04-03
err1
errOAAI
errAlmatrafi, Ahmed M.; Hibshi, Ali M.; Basit, Sulman
err分享
err收藏
Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder
errSCIENTIFIC REPORTS
IF3.9
err2024-03-08
err2
errOAAI
errAlayoubi, Abdulfatah M.; Iqbal, Muhammad; Aman, Hassan; Hashmi, Jamil A.; Alayadhi, Laila; Al-Regaiey, Khalid; Basit, Sulman
err分享
err收藏
Identification of Novel and Recurrent Variants in BTD, GBE1, AGL and ASL Genes in Families with Metabolic Disorders in Saudi Arabia
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2024-02-20
err1
errOAAI
errLatif, Muhammad; Hashmi, Jamil Amjad; Alayoubi, Abdulfatah M.; Ayub, Arusha; Basit, Sulman
err分享
err收藏
Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up
errBIOMEDICINES
IF3.9
err2023-11-06
err4
errOAAI
errAlmatrafi, Ahmad M.; Alluqmani, Majed M.; Basit, Sulman
err分享
err收藏
Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia
errJOURNAL OF GENE MEDICINE
IF2.2
err2023-09-27
err3
errOAAI
errAkbar, Warda; Ullah, Asmat; Haider, Nighat; Suleman, Sufyan; Khan, Fati Ullah; Shah, Abid Ali; Sikandar, Muhammad Atif; Basit, Sulman; Ahmad, Wasim
err分享
err收藏
Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients
errBIOMEDICINES
IF3.9
err2023-09-11
err3
errOAAI
errMagadmi, Rania; Alyoubi, Reem; Moshrif, Tahani; Bakhshwin, Duaa; Suliman, Bandar A.; Kamel, Fatemah; Jamal, Maha; Burzangi, Abdulhadi S.; Basit, Sulman
err分享
err收藏
A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family
errCLINICAL AND EXPERIMENTAL DERMATOLOGY
IF2.8
err2023-02-08
err2
PREAI
errXiong, Xing; Uddin, Syed Ashraf; Munir, Sobia; Cesarato, Nicole; Thiele, Holger; Hassan, Noor; Kumar, Surjeet; Rehman, Fazal Ur; Naeem, Muhammad; Wali, Abdul; Basit, Sulman; Basmanav, F. Buket; Ayub, Muhammad; Betz, Regina C.
err分享
err收藏
Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis
errCLINICAL AND EXPERIMENTAL DERMATOLOGY
IF2.8
err2022-06-01
err3
PREAI
errRaza, Rubab; Ullah, Asmat; Haider, Nighat; Krishin, Jai; Shah, Muqadar; Khan, Fati Ullah; Abdullah; Hansen, Torben; Raza, Syed Irfan; Ahmad, Wasim; Basit, Sulman
err分享
err收藏
A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestationsNKX6-2同源框结构域中的纯合错义变体导致进行性痉挛性共济失调8型，伴有下肢无力和神经系统表现
errJOURNAL OF GENE MEDICINE
IF2.2
err2020-04-16
err4
PREAI
errAlmatrafi, Ahmad; Umair, Muhammad; Eldardear, Amr; Al-Luqmani, Majid; Hashmi, Jamil A.; Albalawi, Alia M.; Alfadhel, Majid; Ramzan, Khushnooda; Basit, Sulman
err分享
err收藏
Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing
errACTA DERMATO-VENEREOLOGICA
IF3.7
err2020-01-01
err4
errOAAI
errUddin, Syed Ashraf; Cesarato, Nicole; Humbatova, Aytaj; Schmidt, Axel; Ur Rehman, Fazal; Naeem, Muhammad; Wolf, Sabrina; Tareen, Abdul Samad; Panezai, Muhammad Anwar; Thiele, Holger; Wali, Abdul; Foelster-Holst, Regina; Basit, Sulman; Ayub, Muhammad; Betz, Regina C.
err分享
err收藏
KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption
errSCIENTIFIC REPORTS
IF3.9
err2019-11-11
err24
errOAAI
errAssiry, Ali A.; Albalawi, Alia M.; Zafar, Muhammad S.; Khan, Siraj D.; Ullah, Anhar; Almatrafi, Ahmed; Ramzan, Khushnooda; Basit, Sulman
err分享
err收藏
UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan
errJOURNAL OF DERMATOLOGICAL SCIENCE
IF4
err2019-09-01
err9
PREAI
errIjaz, Ambreen; Wolf, Sabrina; Mandukhail, Safur Rehman; Basit, Sulman; Betz, Regina C.; Wali, Abdul
err分享
err收藏
Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene
errCLINICAL AND EXPERIMENTAL DERMATOLOGY
IF2.8
err2019-08-28
err5
PREAI
errShah, K.; Jan, A.; Ahmad, F.; Basit, S.; Ramzan, K.; Ahmad, W.
err分享
err收藏

研究方向

暂时未获取到该数据
合作学者
合作期刊
T
Torben Hansen
H 指数: 149 · 论文数: 1.4K
P
Peter Nürnberg
H 指数: 127 · 论文数: 755
W
William B. Dobyns
H 指数: 127 · 论文数: 600
H
Henry Houlden
H 指数: 120 · 论文数: 1.5K
D
Deborah A. Nickerson
H 指数: 120 · 论文数: 675
查看更多