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Saeed Al Turki

Showing results (11-20 of 22) with videos related to

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American Journal of Human Genetics|November 13, 2012
Defective presynaptic choline transport underlies hereditary motor neuropathyKaty E S Barwick, Jane Wright, Saeed Al-Turki, et al.
Frontiers in Endocrinology|June 2, 2012
Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical PatientEleanor Raffan, Liam A Hurst, Saeed Al Turki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 22, 2015
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defectLisa C A D'Alessandro, Saeed Al Turki, Ashok Kumar Manickaraj, et al.
American Journal of Human Genetics|November 19, 2013
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEmma L Baple, Reza Maroofian, Barry A Chioza, et al.
American Journal of Human Genetics|October 2, 2012
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetryHeike Olbrich, Miriam Schmidts, Claudius Werner, et al.
Neurology|April 3, 2015
Loss of PCLO function underlies pontocerebellar hypoplasia type IIIMustafa Y Ahmed, Barry A Chioza, Anna Rajab, et al.
Brain : a Journal of Neurology|October 10, 2013
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGaurav V Harlalka, Anna Lehman, Barry Chioza, et al.
Brain : a Journal of Neurology|June 14, 2015
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73Robert N Jinks, Erik G Puffenberger, Emma Baple, et al.
Human Mutation|February 19, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMiriam Schmidts, Valeska Frank, Tobias Eisenberger, et al.
American Journal of Human Genetics|September 2, 2017
Rare Variants in NR2F2 Cause Congenital Heart Defects in HumansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
American Journal of Human Genetics|November 13, 2012
Defective presynaptic choline transport underlies hereditary motor neuropathyKaty E S Barwick, Jane Wright, Saeed Al-Turki, et al.
Frontiers in Endocrinology|June 2, 2012
Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical PatientEleanor Raffan, Liam A Hurst, Saeed Al Turki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 22, 2015
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defectLisa C A D'Alessandro, Saeed Al Turki, Ashok Kumar Manickaraj, et al.
American Journal of Human Genetics|November 19, 2013
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEmma L Baple, Reza Maroofian, Barry A Chioza, et al.
American Journal of Human Genetics|October 2, 2012
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetryHeike Olbrich, Miriam Schmidts, Claudius Werner, et al.
Neurology|April 3, 2015
Loss of PCLO function underlies pontocerebellar hypoplasia type IIIMustafa Y Ahmed, Barry A Chioza, Anna Rajab, et al.
Brain : a Journal of Neurology|October 10, 2013
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesisGaurav V Harlalka, Anna Lehman, Barry Chioza, et al.
Brain : a Journal of Neurology|June 14, 2015
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73Robert N Jinks, Erik G Puffenberger, Emma Baple, et al.
Human Mutation|February 19, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMiriam Schmidts, Valeska Frank, Tobias Eisenberger, et al.
American Journal of Human Genetics|September 2, 2017
Rare Variants in NR2F2 Cause Congenital Heart Defects in HumansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Pageof 3