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Hanan E Shamseldin

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2012
Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencingHanan E Shamseldin, Abdulrahman Swaid, Fowzan S Alkuraya
Journal of Medical Genetics|January 11, 2012
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutationHanan E Shamseldin, Mohamed Elfaki, Fowzan S Alkuraya
American Journal of Medical Genetics. Part A|June 29, 2010
Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IVHanan E Shamseldin, Zuhair Rahbeeni, Fowzan S Alkuraya
Journal of Medical Genetics|November 29, 2011
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformationHanan E Shamseldin, Maha A Faden, Walid Alashram, et al.
JAAD Case Reports|September 3, 2020
Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenitaLama Altawil, Hind Alshihry, Hala Ahmed, et al.
Human Genetics|January 9, 2016
GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorderHanan E Shamseldin, Alexis H Bennett, Majid Alfadhel, et al.
Journal of Medical Genetics|January 15, 2014
A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutationMamdouh Albaqumi, Fatimah A Alhabib, Hanan E Shamseldin, et al.
Human Genetics|July 16, 2016
ANKS3 is mutated in a family with autosomal recessive laterality defectHanan E Shamseldin, Toma Antonov Yakulov, Amal Hashem, et al.
Blood|November 30, 2013
MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell countsAbdulrahman Alsultan, Hanan E Shamseldin, Mohamed Elfaki Osman, et al.
Human Genetics|July 16, 2016
A lethal phenotype associated with tissue plasminogen deficiency in humansHanan E Shamseldin, Abdulrahman Aldeeri, Zainab Babay, et al.
Pageof 8

Showing results (1-10 of 76) with videos related to

Sort By:
Pageof 8
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2012
Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencingHanan E Shamseldin, Abdulrahman Swaid, Fowzan S Alkuraya
Journal of Medical Genetics|January 11, 2012
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutationHanan E Shamseldin, Mohamed Elfaki, Fowzan S Alkuraya
American Journal of Medical Genetics. Part A|June 29, 2010
Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IVHanan E Shamseldin, Zuhair Rahbeeni, Fowzan S Alkuraya
Journal of Medical Genetics|November 29, 2011
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformationHanan E Shamseldin, Maha A Faden, Walid Alashram, et al.
JAAD Case Reports|September 3, 2020
Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenitaLama Altawil, Hind Alshihry, Hala Ahmed, et al.
Human Genetics|January 9, 2016
GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorderHanan E Shamseldin, Alexis H Bennett, Majid Alfadhel, et al.
Journal of Medical Genetics|January 15, 2014
A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutationMamdouh Albaqumi, Fatimah A Alhabib, Hanan E Shamseldin, et al.
Human Genetics|July 16, 2016
ANKS3 is mutated in a family with autosomal recessive laterality defectHanan E Shamseldin, Toma Antonov Yakulov, Amal Hashem, et al.
Blood|November 30, 2013
MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell countsAbdulrahman Alsultan, Hanan E Shamseldin, Mohamed Elfaki Osman, et al.
Human Genetics|July 16, 2016
A lethal phenotype associated with tissue plasminogen deficiency in humansHanan E Shamseldin, Abdulrahman Aldeeri, Zainab Babay, et al.
Pageof 8