| Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man K Tuschl, PT Clayton, SM Gospe, S Gulab, S Ibrahim, P Singhi, R Aulakh, ... The American Journal of Human Genetics 90 (3), 457-466, 2012 | 390 | 2012 |
| Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability MA Khan, MA Rafiq, A Noor, S Hussain, JV Flores, V Rupp, AK Vincent, ... The American Journal of Human Genetics 90 (5), 856-863, 2012 | 234 | 2012 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 208 | 2019 |
| Mutations in the neuronal vesicular SNARE VAMP2 affect synaptic membrane fusion and impair human neurodevelopment V Salpietro, NT Malintan, I Llano-Rivas, CG Spaeth, S Efthymiou, ... The American Journal of Human Genetics 104 (4), 721-730, 2019 | 93 | 2019 |
| Missed opportunities in surveillance and screening systems to detect developmental delay: A developing country perspective Z Aly, F Taj, S Ibrahim Brain and development 32 (2), 90-97, 2010 | 77 | 2010 |
| PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ... Annals of neurology 86 (2), 225-240, 2019 | 69 | 2019 |
| Subacute sclerosing panencephalitis–current perspectives SK Jafri, R Kumar, SH Ibrahim Pediatric health, medicine and therapeutics, 67-71, 2018 | 68 | 2018 |
| Bi-allelic JAM2 variants lead to early-onset recessive primary familial brain calcification LV Schottlaender, R Abeti, Z Jaunmuktane, C Macmillan, V Chelban, ... The American Journal of Human Genetics 106 (3), 412-421, 2020 | 59 | 2020 |
| Febrile seizures: factors affecting risk of recurrence in Pakistani children presenting at the Aga Khan University Hospital Z Habib, S Akram, S Ibrahim, B Hasan Journal of Pakistan Medical Association 53 (1), 2003 | 51 | 2003 |
| Clinical profile and treatment of infantile spasms using vigabatrin and ACTH-a developing country perspective S Ibrahim, S Gulab, S Ishaque, T Saleem BMC pediatrics 10, 1-9, 2010 | 46 | 2010 |
| Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene K Mukhtiar, S Ibrahim, K Tuschl, P Mills Brain and Development 38 (9), 862-865, 2016 | 45 | 2016 |
| Prevalence of early childhood disability in a rural district of S ind, P akistan SH Ibrahim, ZA Bhutta Developmental Medicine & Child Neurology 55 (4), 357-363, 2013 | 45 | 2013 |
| Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability S Neuser, B Brechmann, G Heimer, I Brösse, S Schubert, L O'Grady, ... Human mutation 42 (6), 762-776, 2021 | 27 | 2021 |
| Neurodevelopmental outcomes of premature infants at a tertiary care center in Pakistan MR Khan, PK Maheshwari, H Shamim, AF Saleem, S Ahmed, SR Ali, ... Pediatric neurology 47 (2), 109-113, 2012 | 24 | 2012 |
| The upsurge of SSPE—a reflection of national measles immunization status in Pakistan SH Ibrahim, N Amjad, AF Saleem, P Chand, A Rafique, KN Humayun Journal of tropical pediatrics 60 (6), 449-453, 2014 | 21 | 2014 |
| Spinal muscular atrophy: Clinical spectrum and genetic mutations in Pakistani children S Ibrahim, T Moatter, AF Saleem Neurology India 60 (3), 294-298, 2012 | 20 | 2012 |
| MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism V Chelban, M Carecchio, G Rea, A Bowirrat, S Kirmani, L Magistrelli, ... Neurology: Genetics 6 (2), e399, 2020 | 18 | 2020 |
| Adrenal insufficiency in a child with MELAS syndrome B Afroze, N Amjad, SH Ibrahim, KN Humayun, Y Yakob Brain and Development 36 (10), 924-927, 2014 | 18 | 2014 |
| Status epilepticus in children: a five-year experience at Aga Khan University Hospital SH Ibrahim, MA Yezdan, SQ Nizami Journal of Pakistan Medical Association 53 (12), 597, 2003 | 18 | 2003 |
| CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children S Ibrahim, S Maqbool, M Azam, MP Iqbal, R Qamar Molecular biology reports 45, 353-360, 2018 | 16 | 2018 |
Karin TuschlDr在 ucl.ac.uk 的电子邮件经过验证
