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Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula
Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula
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Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula

Bohlega, Saeed ; Al-Jishi, Adel ; Dobson-Stone, Carol ; Rampoldi, Luca ; Saha, Parthasarathi ; Murad, Hatem ; Kareem, Abid ; Roberts, George ; Monaco, Anthony P.

Movement disorders, 2003-04, Vol.18 (4), p.403-407 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1
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Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1

Al-Semari, Abdulaziz ; Bohlega, Saeed

American journal of medical genetics. Part A, 2007-01, Vol.143A (2), p.149-160 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia
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A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia

Al Tassan, Nada ; Khalil, Dania ; Shinwari, Jameela ; Al Sharif, Latifa ; Bavi, Prashant ; Abduljaleel, Zainularifeen ; Abu Dhaim, Nada ; Magrashi, Amna ; Bobis, Steve ; Ahmed, Hala ; AlAhmed, Samaher ; Bohlega, Saeed

Human mutation, 2012-02, Vol.33 (2), p.351-354 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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