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Genetic Counseling (Geneva, Switzerland)
|
October 27, 2009
Mode of inheritance in systemic lupus erythematosus in Saudi multiplex families
A Qari, S Al-Mayouf, M Al-Owain
Clinical Genetics
|
October 19, 2010
An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17
M Al-Owain, A M Alazami, F S Alkuraya
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 2, 2004
Growth hormone deficiency associated with methylmalonic acidemia
M Al-Owain, C Freehauf, L Bernstein, et al.
JIMD Reports
|
February 23, 2013
Autism spectrum disorder in a child with propionic acidemia
M Al-Owain, N Kaya, H Al-Shamrani, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
October 26, 2005
Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection
Osama Y Al-Dirbashi, Minnie Jacob, Lujane Y Al-Ahaidib, et al.
American Journal of Medical Genetics. Part A
|
July 31, 2014
Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings
O Khalifa, F Imtiaz, K Ramzan, et al.
Clinical Genetics
|
July 9, 2013
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D
R Shaheen, M Al-Owain, A O Khan, et al.
Clinical Genetics
|
June 10, 2010
Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance
M Al-Owain, N Kaya, H Al-Zaidan, et al.
Clinical Genetics
|
August 27, 2010
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes
M Al-Owain, S Wakil, F Shareef, et al.
Clinical Genetics
|
April 27, 2011
Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria
S H E Zaidi, M Faiyaz-Ul-Haque, T Shuaib, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 16) with videos related to
Sort By:
Page
of 2
Genetic Counseling (Geneva, Switzerland)
|
October 27, 2009
Mode of inheritance in systemic lupus erythematosus in Saudi multiplex families
A Qari, S Al-Mayouf, M Al-Owain
Clinical Genetics
|
October 19, 2010
An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17
M Al-Owain, A M Alazami, F S Alkuraya
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
April 2, 2004
Growth hormone deficiency associated with methylmalonic acidemia
M Al-Owain, C Freehauf, L Bernstein, et al.
JIMD Reports
|
February 23, 2013
Autism spectrum disorder in a child with propionic acidemia
M Al-Owain, N Kaya, H Al-Shamrani, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
October 26, 2005
Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection
Osama Y Al-Dirbashi, Minnie Jacob, Lujane Y Al-Ahaidib, et al.
American Journal of Medical Genetics. Part A
|
July 31, 2014
Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings
O Khalifa, F Imtiaz, K Ramzan, et al.
Clinical Genetics
|
July 9, 2013
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D
R Shaheen, M Al-Owain, A O Khan, et al.
Clinical Genetics
|
June 10, 2010
Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance
M Al-Owain, N Kaya, H Al-Zaidan, et al.
Clinical Genetics
|
August 27, 2010
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes
M Al-Owain, S Wakil, F Shareef, et al.
Clinical Genetics
|
April 27, 2011
Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria
S H E Zaidi, M Faiyaz-Ul-Haque, T Shuaib, et al.
Page
of 2