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Clinical Genetics
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November 30, 2011
A novel mutation in PRDM5 in brittle cornea syndrome
M A Aldahmesh, J Y Mohamed, F S Alkuraya
Clinical Genetics
|
May 8, 2013
Mutations in ALDH1A3 cause microphthalmia
M A Aldahmesh, A O Khan, H Hijazi, et al.
Clinical Genetics
|
November 22, 2012
Homozygous truncation of SIX6 causes complex microphthalmia in humans
M A Aldahmesh, A O Khan, H Hijazi, et al.
Neurogenetics
|
March 12, 2009
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging
M A Aldahmesh, Z N Al-Hassnan, M Aldosari, et al.
Journal of Medical Genetics
|
October 28, 2009
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping
L Abu Safieh, M A Aldahmesh, H Shamseldin, et al.
Clinical Genetics
|
July 29, 2018
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies
N Patel, H Alkuraya, S S Alzahrani, et al.
Clinical Genetics
|
February 17, 2018
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos
N Patel, A O Khan, S Alsahli, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
Clinical Genetics
|
November 30, 2011
A novel mutation in PRDM5 in brittle cornea syndrome
M A Aldahmesh, J Y Mohamed, F S Alkuraya
Clinical Genetics
|
May 8, 2013
Mutations in ALDH1A3 cause microphthalmia
M A Aldahmesh, A O Khan, H Hijazi, et al.
Clinical Genetics
|
November 22, 2012
Homozygous truncation of SIX6 causes complex microphthalmia in humans
M A Aldahmesh, A O Khan, H Hijazi, et al.
Neurogenetics
|
March 12, 2009
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging
M A Aldahmesh, Z N Al-Hassnan, M Aldosari, et al.
Journal of Medical Genetics
|
October 28, 2009
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping
L Abu Safieh, M A Aldahmesh, H Shamseldin, et al.
Clinical Genetics
|
July 29, 2018
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies
N Patel, H Alkuraya, S S Alzahrani, et al.
Clinical Genetics
|
February 17, 2018
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos
N Patel, A O Khan, S Alsahli, et al.
Page
of 1