| An autoinflammatory disease with deficiency of the interleukin-1–receptor antagonist I Aksentijevich, SL Masters, PJ Ferguson, P Dancey, J Frenkel, ... New England Journal of Medicine 360 (23), 2426-2437, 2009 | 1054 | 2009 |
| Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome) PJ Ferguson, S Chen, MK Tayeh, L Ochoa, SM Leal, A Pelet, A Munnich, ... Journal of medical genetics 42 (7), 551-557, 2005 | 434 | 2005 |
| Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture NS Enattah, TGK Jensen, M Nielsen, R Lewinski, M Kuokkanen, ... The American Journal of Human Genetics 82 (1), 57-72, 2008 | 398 | 2008 |
| Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia JR Hurvitz, WM Suwairi, W Van Hul, H El-Shanti, A Superti-Furga, ... Nature genetics 23 (1), 94-98, 1999 | 317 | 1999 |
| The infevers autoinflammatory mutation online registry: update with new genes and functions F Milhavet, L Cuisset, HM Hoffman, R Slim, H El‐Shanti, I Aksentijevich, ... Human mutation 29 (6), 803-808, 2008 | 316 | 2008 |
| A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2 S Amr, C Heisey, M Zhang, XJ Xia, KH Shows, K Ajlouni, A Pandya, ... The American Journal of Human Genetics 81 (4), 673-683, 2007 | 297 | 2007 |
| A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome AG Bassuk, RH Wallace, A Buhr, AR Buller, Z Afawi, M Shimojo, S Miyata, ... The American Journal of Human Genetics 83 (5), 572-581, 2008 | 249 | 2008 |
| A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis PJ Ferguson, X Bing, MA Vasef, LA Ochoa, A Mahgoub, TJ Waldschmidt, ... Bone 38 (1), 41-47, 2006 | 241 | 2006 |
| Genetic disorders among Arab populations AS Teebi Springer Science & Business Media, 2010 | 216 | 2010 |
| Familial mediterranean fever in Arabs H El-Shanti, HA Majeed, M El-Khateeb The Lancet 367 (9515), 1016-1024, 2006 | 200 | 2006 |
| Familial Mediterranean fever in children: the expanded clinical profile HA Majeed, M Rawashdeh, H El-Shanti, H Qubain, N Khuri-Bulos, ... Qjm 92 (6), 309-318, 1999 | 183 | 1999 |
| Chronic recurrent multifocal osteomyelitis: a concise review and genetic update HI El-Shanti, PJ Ferguson Clinical Orthopaedics and Related Research® 462, 11-19, 2007 | 175 | 2007 |
| Autoinflammatory bone disorders PJ Ferguson, HI El-Shanti Current opinion in rheumatology 19 (5), 492-498, 2007 | 172 | 2007 |
| Mutations in prickle orthologs cause seizures in flies, mice, and humans H Tao, JR Manak, L Sowers, X Mei, H Kiyonari, T Abe, NS Dahdaleh, ... The American Journal of Human Genetics 88 (2), 138-149, 2011 | 163 | 2011 |
| A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis D Ahram, TS Sato, A Kohilan, M Tayeh, S Chen, S Leal, M Al-Salem, ... The American Journal of Human Genetics 84 (2), 274-278, 2009 | 160 | 2009 |
| Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24. 3 K Wang, EW Pugh, S Griffen, KF Doheny, WZ Mostafa, MM al-Aboosi, ... The American Journal of Human Genetics 68 (4), 1055-1060, 2001 | 156 | 2001 |
| The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review HA Majeed, M Al-Tarawna, H El-Shanti, B Kamel, F Al-Khalaileh European journal of pediatrics 160, 705-710, 2001 | 152 | 2001 |
| Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q H El-Shanti, AC Lidral, N Jarrah, L Druhan, K Ajlouni The American Journal of Human Genetics 66 (4), 1229-1236, 2000 | 150 | 2000 |
| A splice site mutation confirms the role of LPIN2 in Majeed syndrome ZS Al‐Mosawi, KK Al‐Saad, R Ijadi‐Maghsoodi, HI El‐Shanti, ... Arthritis & Rheumatism 56 (3), 960-964, 2007 | 133 | 2007 |
| A novel mutation of IL1RN in the deficiency of interleukin‐1 receptor antagonist syndrome: Description of two unrelated cases from Brazil AA Jesus, M Osman, CA Silva, PW Kim, TH Pham, M Gadina, B Yang, ... Arthritis & Rheumatism 63 (12), 4007-4017, 2011 | 122 | 2011 |
Kamel AjlouniThe University of Jordan在 ju.edu.jo 的电子邮件经过验证
