未登录Plasma oxysterol profiling in children reveals 24-hydroxycholesterol as a potential marker for Autism Spectrum Disorders
Grayaa, S.; Zerbinati, C.; Messedi, M.; Hadjkacem, I; Chtourou, M.; Ben Touhemi, D.; Naifar, M.; Ayadi, H.; Ayedi, F.; Iuliano, L.
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收藏Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect (vol 174, pg 1491, 2015)
Bougacha-Elleuch, Noura; Charfi, Nadia; Miled, Nabil; Bouhajja, Houda; Belguith, Neila; Mnif, Mouna; Jorge, Paula; Chikhrouhou, Nessrine; Ayadi, Hammadi; Hachicha, Mongia; Abid, Mohamed
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收藏Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect
Bougacha-Elleuch, Noura; Charfi, Nadia; Miled, Nabil; Bouhajja, Houda; Belguith, Neila; Mnif, Mouna; Jaurge, Paula; Chikhrouhou, Nessrine; Ayadi, Hammadi; Hachicha, Mongia; Abid, Mohamed
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收藏Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice丝氨酸蛋白酶PRSS56的改变导致小鼠的闭角型青光眼和人和小鼠的后小眼症
Nair, K. Saidas; Hmani-Aifa, Mounira; Ali, Zain; Kearney, Alison L.; Ben Salem, Salma; Macalinao, Danilo G.; Cosma, Ioan M.; Bouassida, Walid; Hakim, Bochra; Benzina, Zeineb; Soto, Ileana; Soderkvist, Peter; Howell, Gareth R.; Smith, Richard S.; Ayadi, Hammadi; John, Simon W. M.
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收藏A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1
Hmani-Aifa, Mounira; Ben Salem, Salma; Benzina, Zeineb; Bouassida, Walid; Messaoud, Riadh; Turki, Khalil; Khairallah, Moncef; Rebai, Ahmed; Fakhfekh, Faiza; Soderkvist, Peter; Ayadi, Hammadi
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收藏Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
Ahmed, Zubair M.; Masmoudi, Saber; Kalay, Ersan; Belyantseva, Inna A.; Mosrati, Mohamed Ali; Collin, Rob W. J.; Riazuddin, Saima; Hmani-Aifa, Mounira; Venselaar, Hanka; Kawar, Mayya N.; Tlili, Abdelaziz; van der Zwaag, Bert; Khan, Shahid Y.; Ayadi, Leila; Riazuddin, S. Amer; Morell, Robert J.; Griffith, Andrew J.; Charfedine, Ilhem; Caylan, Refik; Oostrik, Jaap; Karaguzel, Ahmet; Ghorbel, Abdelmonem; Riazuddin, Sheikh; Friedman, Thomas B.; Ayadi, Hammadi; Kremer, Hannie
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收藏Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family
Hmani-Aifa, Mounira; Benzina, Zeineb; Zulfiqar, Fareeha; Dhouib, Houria; Shahzadi, Amber; Ghorbel, Abdelmonem; Rebai, Ahmed; Soderkvist, Peter; Riazuddin, Sheikh; Kimberling, William J.; Ayadi, Hammadi
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收藏HLA class I and II polymorphisms in a large multiplex family with autoimmune thyroid diseases
Elleuch-Bougacha, N; Maalej, A; Makni, H; Bellassouad, M; Abid, M; Jouida, J; Ayed, K; Charron, D; Tamouza, R; Ayadi, H
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收藏Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1
Masmoudi, S; Tlili, A; Majava, M; Ghorbel, AM; Chardenoux, S; Lemainque, A; Ben Zina, Z; Moala, J; Männikkö, M; Weil, D; Lathrop, M; Ala-Kokko, L; Drira, M; Petit, C; Ayadi, H
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