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Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
J Clin Invest. 2009 Dec;119(12):3765-73. doi: 10.1172/JCI40732. Epub 2009 Nov 2.
J Clin Invest. 2009.
PMID: 19884660
Free PMC article.
Clinical characteristics and treatment outcome of childhood acute lymphoblastic leukemia in Saudi Arabia: a multi-institutional retrospective national collaborative study.
Al-Sudairy R, Al-Nasser A, Alsultan A, Al Ahmari A, Abosoudah I, Al-Hayek R, Al-Harbi T, Al-Manjomi F, Al-Harbi M, Al-Ghamdi H, Al-Shahrani M, Belgaumi AF.
Al-Sudairy R, et al. Among authors: al manjomi f.
Pediatr Blood Cancer. 2014 Jan;61(1):74-80. doi: 10.1002/pbc.24584. Epub 2013 Aug 12.
Pediatr Blood Cancer. 2014.
PMID: 23940019
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Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A.
Arts P, et al.
Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3.
Genome Med. 2019.
PMID: 31203817
Free PMC article.
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Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
McQuaid ME, Ahmed K, Tran S, Rousseau J, Shaheen R, Kernohan KD, Yuki KE, Grover P, Dreseris ES, Ahmed S, Dupuis L, Stimec J, Shago M, Al-Hassnan ZN, Tremblay R, Maass PG, Wilson MD, Grunebaum E, Boycott KM, Boisvert FM, Maddirevula S, Faqeih EA, Almanjomi F, Khan ZU, Alkuraya FS, Campeau PM, Kannu P, Campos EI, Wurtele H.
McQuaid ME, et al.
JCI Insight. 2022 May 23;7(10):e155648. doi: 10.1172/jci.insight.155648.
JCI Insight. 2022.
PMID: 35603789
Free PMC article.
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Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).
De Falco L, Totaro F, Nai A, Pagani A, Girelli D, Silvestri L, Piscopo C, Campostrini N, Dufour C, Al Manjomi F, Minkov M, Van Vuurden DG, Feliu A, Kattamis A, Camaschella C, Iolascon A.
De Falco L, et al. Among authors: al manjomi f.
Hum Mutat. 2010 May;31(5):E1390-405. doi: 10.1002/humu.21243.
Hum Mutat. 2010.
PMID: 20232450
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A three-year old girl with Down's syndrome and an abnormal finding in the chest.
Al-Manjomi FM, Al Mane K, Al-Nasser A.
Al-Manjomi FM, et al.
Ann Saudi Med. 2005 Jul-Aug;25(4):349, 354-5. doi: 10.5144/0256-4947.2005.349.
Ann Saudi Med. 2005.
PMID: 16212133
Free PMC article.
No abstract available.
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