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M Al-Owain

Showing results (1-10 of 16) with videos related to

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Genetic Counseling (Geneva, Switzerland)|October 27, 2009
Mode of inheritance in systemic lupus erythematosus in Saudi multiplex familiesA 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 17M Al-Owain, A M Alazami, F S Alkuraya
Journal of Pediatric Endocrinology & Metabolism : JPEM|April 2, 2004
Growth hormone deficiency associated with methylmalonic acidemiaM Al-Owain, C Freehauf, L Bernstein, et al.
JIMD Reports|February 23, 2013
Autism spectrum disorder in a child with propionic acidemiaM 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 detectionOsama 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 findingsO 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 5DR 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 appearanceM 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 phenotypesM 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 homocystinuriaS H E Zaidi, M Faiyaz-Ul-Haque, T Shuaib, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Genetic Counseling (Geneva, Switzerland)|October 27, 2009
Mode of inheritance in systemic lupus erythematosus in Saudi multiplex familiesA 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 17M Al-Owain, A M Alazami, F S Alkuraya
Journal of Pediatric Endocrinology & Metabolism : JPEM|April 2, 2004
Growth hormone deficiency associated with methylmalonic acidemiaM Al-Owain, C Freehauf, L Bernstein, et al.
JIMD Reports|February 23, 2013
Autism spectrum disorder in a child with propionic acidemiaM 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 detectionOsama 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 findingsO 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 5DR 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 appearanceM 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 phenotypesM 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 homocystinuriaS H E Zaidi, M Faiyaz-Ul-Haque, T Shuaib, et al.
Pageof 2