Author/Creator: Mansouri, Maria - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Mansouri, Maria

1. A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report. (December 2015)

Authors:: Chafai-Elalaoui, Siham; Chalon, Matthias; Elkhartoufi, Nadia; Kriouele, Yamna; Mansouri, Maria; Attié-Bitach, Tania; Sefiani, Abdelaziz; Baala, Lekbir
Journal:: Journal of medical case reports
Issue:: Volume 9:Number 1(2015)
Page Start:: 1
Record Type:: Journal Article
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2. Further evidence of POP1 mutations as the cause of anauxetic dysplasia. Issue 9 (6th July 2016)

Authors:: Elalaoui, Siham Chafai; Laarabi, Fatima Zahra; Mansouri, Maria; Mrani, Nidal Alaoui; Nishimura, Gen; Sefiani, Abdelaziz
Journal:: American journal of medical genetics
Issue:: Volume 170:Issue 9(2016)
Page Start:: 2462
Record Type:: Journal Article
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3. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo‐meta‐epiphyseal dysplasia, short limb‐abnormal calcification type. Issue 2 (13th October 2015)

Authors:: Mansouri, Maria; Kayserili, Hülya; Elalaoui, Siham Chafai; Nishimura, Gen; Iida, Aritoshi; Lyahyai, Jaber; Miyake, Noriko; Matsumoto, Naomichi; Sefiani, Abdelaziz; Ikegawa, Shiro
Journal:: American journal of medical genetics
Issue:: Volume 170:Issue 2(2016)
Page Start:: 460
Record Type:: Journal Article
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