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Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.
Genet Med. 2011 Sep;13(9):841-7. doi: 10.1097/GIM.0b013e318217477f.
Genet Med. 2011.
PMID: 21555946
Free article.
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, Gwanmesia L, Aliferis K, Bustamante Eduardo M, Stamoulis G, Psoni S, Kitsiou-Tzeli S, Fryssira H, Kanavakis E, Al-Allawi N, Sefiani A, Al Hait S, Elalaoui SC, Jalkh N, Al-Gazali L, Al-Jasmi F, Bouhamed HC, Abdalla E, Cooper DN, Hamamy H, Antonarakis SE.
Makrythanasis P, et al. Among authors: gwanmesia l.
Hum Mutat. 2014 Oct;35(10):1203-10. doi: 10.1002/humu.22617. Epub 2014 Aug 18.
Hum Mutat. 2014.
PMID: 25044680
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Elevated middle cerebral artery peak systolic velocity as a prenatal manifestation of heterozygous type 2 alpha-thalassemia.
Gwanmesia LM, Samii K, Boulvain M, Extermann P, Faigaux R, Fokstuen S.
Gwanmesia LM, et al.
Eur J Obstet Gynecol Reprod Biol. 2013 Apr;167(2):235-6. doi: 10.1016/j.ejogrb.2012.12.007. Epub 2013 Jan 3.
Eur J Obstet Gynecol Reprod Biol. 2013.
PMID: 23290248
No abstract available.
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The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group.
Petzold F, et al.
Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23.
Kidney Int. 2023.
PMID: 37230223
Free article.
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