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Angiœdème bradykinique héréditaire : à propos d'un cas homozygote décrit au Niger et revue de la littérature.

• Authors : Hamidou, T.; Laouali, S.; Mahaman Moustapha, L.

• Source: Revue Francaise d'Allergologie; Mar2024, Vol. 64 Issue 2, pN.PAG-N.PAG, 1p

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Homozygote and heterozygote transthyretin p.Val142Ile (V122I) genetic variant: Comparison of cardiac involvement, extracardiac manifestations and outcomes.

• Authors : Albenque, G.; Bézard, M.; Kharoubi, M.

• Source: Archives of Cardiovascular Diseases Supplements; Jan2023, Vol. 15 Issue 1, p36-37, 2p

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CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome.

• Authors : Akdaş, Enes Yağız; Turan, Soeren; Guhathakurta, Debarpan

• Source: Stem Cell Research; Mar2023, Vol. 67, pN.PAG-N.PAG, 1p

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L’hémoglobinose C homozygote : à propos d’un cas de découverte fortuite.

• Authors : Nagara, M.; Alba-Sauviat, C.; Simeon, D.

Subjects: GENETIC mutation; GLOBIN genes; HEMOGLOBIN polymorphisms

• Source: IBS, Immuno-analyse & Biologie Specialisee; Aug2009, Vol. 24 Issue 4, p210-216, 7p

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Hémoglobinopathie O Arab homozygote dans une famille marocaine.

• Authors : Elmachtani Idrissi, S.; El Omri, N.; El Jaoudi, R.

Subjects: HEMOGLOBINOPATHY; HEMOGLOBIN genetics; GENETIC disorders

• Source: IBS, Immuno-analyse & Biologie Specialisee; Oct2012, Vol. 27 Issue 5, p268-271, 4p

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Hereditary Equine Regional Dermal Asthenia homozygote adult working horse with mild signs - A Case Report.

• Authors : Patterson Rosa, Laura; Troop, Tyler W.; Martin, Katie

• Source: Journal of Equine Veterinary Science; Nov2021, Vol. 106, pN.PAG-N.PAG, 1p

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Generation of Mt3 Homozygote murine ES cell lines via CRISPR/Cas9 technology.

• Authors : Zhou, Huanxin; Sun, Hongyan; Rong, Zhijiang

• Source: Stem Cell Research; Apr2022, Vol. 60, pN.PAG-N.PAG, 1p

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Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene.

• Authors : Guo, Xiaoling; Wang, Dexuan; Shan, Xiaoou

• Source: Stem Cell Research; Apr2021, Vol. 52, pN.PAG-N.PAG, 1p

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Generation of an induced pluripotent stem cell line from a Bartter syndrome patient with the homozygote mutation p.A244D (c.731C>A) in SLC12A1 gene.

• Authors : Ji, Weiping; Wang, Dexuan; Chen, Congde

• Source: Stem Cell Research; Apr2021, Vol. 52, pN.PAG-N.PAG, 1p

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Découverte fortuite d'une drépanocytose homozygote chez un adulte.

• Authors : Chafa-Tadlaoui, Dalila Aït; Touchrift, Meriem; Ahlouche, Hazel

• Source: Revue Francophone des Laboratoires; Nov2007 Supplement, Vol. 2007 Issue 396, p32-34, 3p

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