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Items: 7

1.

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.

Kong XF, Vogt G, Itan Y, Macura-Biegun A, Szaflarska A, Kowalczyk D, Chapgier A, Abhyankar A, Furthner D, Djambas Khayat C, Okada S, Bryant VL, Bogunovic D, Kreins A, Moncada-Vélez M, Migaud M, Al-Ajaji S, Al-Muhsen S, Holland SM, Abel L, Picard C, Chaussabel D, Bustamante J, Casanova JL, Boisson-Dupuis S.

Hum Mol Genet. 2013 Feb 15;22(4):769-81. doi: 10.1093/hmg/dds484. Epub 2012 Nov 16.

2.

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PP, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Ozbek N, Aksu G, Keser M, Somer A, Hatipoglu N, Aydogmus C, Asilsoy S, Camcioglu Y, Gülle S, Ozgur TT, Ozen M, Oleastro M, Bernasconi A, Mamishi S, Parvaneh N, Rosenzweig S, Barbouche R, Pedraza S, Lau YL, Ehlayel MS, Fieschi C, Abel L, Sanal O, Casanova JL.

Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832.

3.

Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report.

Al Balwi M, Al Ajaji S, Al Abdulkareem I, Hajeer A.

Cases J. 2009 Jul 30;2:8391. doi: 10.4076/1757-1626-2-8391.

4.

Pyogenic liver abscess and Papillon-Lefèvre syndrome: not a rare association.

Almuneef M, Al Khenaizan S, Al Ajaji S, Al-Anazi A.

Pediatrics. 2003 Jan;111(1):e85-8. Review.

PMID:
12509601
5.

Immunophenotyping of peripheral blood lymphocytes in Saudi men.

Al Qouzi A, Al Salamah A, Al Rasheed R, Al Musalam A, Al Khairy K, Kheir O, Al Ajaji S, Hajeer AH.

Clin Diagn Lab Immunol. 2002 Mar;9(2):279-81.

6.

Progressive familial intrahepatic cholestasis (Byler's disease) in Arab children.

Kagalwalla AF, Al Amir AR, Khalifa A, Sylven M, Al Ajaji S, Kagalwalla YA.

Ann Trop Paediatr. 1995 Dec;15(4):321-7.

PMID:
8687210
7.

Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver.

Kagalwalla AF, Kagalwalla YA, al Ajaji S, Gorka W, Ali MA.

J Pediatr. 1995 Oct;127(4):602-5.

PMID:
7562285

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