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Items: 5

1.

A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations.

Al Ghamdi MA, Al-Qattan MM, Hadadi A, Alabdulrahman A, Almuzzaini B, Alatwi N, AlBalwi MA.

Eur J Med Genet. 2019 Aug 14:103738. doi: 10.1016/j.ejmg.2019.103738. [Epub ahead of print]

PMID:
31421290
2.

Atypical influenza A(H1N1)pdm09 strains caused an influenza virus outbreak in Saudi Arabia during the 2009-2011 pandemic season.

Khan A, AlBalwi MA, AlAbdulkareem I, AlMasoud A, AlAsiri A, AlHarbi W, AlSehile F, El-Saed A, Balkhy HH.

J Infect Public Health. 2019 Jul - Aug;12(4):557-567. doi: 10.1016/j.jiph.2019.01.067. Epub 2019 Feb 21.

3.

Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.

Al-Qattan MM, Hadadi A, Al-Thunayan AM, Eldali AA, AlBalwi MA.

BMC Med Genet. 2018 Sep 4;19(1):158. doi: 10.1186/s12881-018-0672-z.

4.

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S.

PLoS One. 2016 Mar 14;11(3):e0150555. doi: 10.1371/journal.pone.0150555. eCollection 2016.

5.

Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.

Ababneh FK, AlSwaid A, Youssef T, Al Azzawi M, Crosby A, AlBalwi MA.

Am J Med Genet A. 2013 Dec;161A(12):3155-60. doi: 10.1002/ajmg.a.36160. Epub 2013 Aug 16.

PMID:
24039075

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