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Anna Rajab

Showing results (21-30 of 49) with videos related to

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Elife|March 22, 2021
Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humansJamie L Courtland, Tyler Wa Bradshaw, Greg Waitt, et al.
Human Molecular Genetics|April 19, 2011
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIPFabienne Ropers, Emmanuel Derivery, Hao Hu, et al.
Plos Genetics|March 20, 2010
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutationsAnna Rajab, Volker Straub, Liza J McCann, et al.
F1000Research|November 24, 2015
Repository of mutations from Oman: The entry point to a national mutation databaseAnna Rajab, Nishath Hamza, Salma Al Harasi, et al.
Human Molecular Genetics|April 15, 2008
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing lossAnna Rajab, Daniel Kelberman, Sandra C P de Castro, et al.
Nucleus (Austin, Tex.)|February 18, 2011
Dosage effect of zero to three functional LBR-genes in vivo and in vitroSophia Gravemann, Nele Schnipper, Hannes Meyer, et al.
American Journal of Medical Genetics. Part A|October 15, 2015
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizuresAlmundher Al-Maawali, Brenda J Barry, Anna Rajab, et al.
European Journal of Human Genetics : EJHG|November 6, 2009
High-throughput sequencing of microdissected chromosomal regionsAnja Weise, Bernd Timmermann, Manfred Grabherr, et al.
Plos One|January 13, 2021
DALIA- a comprehensive resource of Disease Alleles in Arab populationAastha Vatsyayan, Parul Sharma, Shrey Gupta, et al.
American Journal of Human Genetics|May 22, 2004
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndromeHans Christian Hennies, Anita Rauch, Wenke Seifert, et al.
Pageof 5

Showing results (21-30 of 49) with videos related to

Sort By:
Pageof 5
Elife|March 22, 2021
Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humansJamie L Courtland, Tyler Wa Bradshaw, Greg Waitt, et al.
Human Molecular Genetics|April 19, 2011
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIPFabienne Ropers, Emmanuel Derivery, Hao Hu, et al.
Plos Genetics|March 20, 2010
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutationsAnna Rajab, Volker Straub, Liza J McCann, et al.
F1000Research|November 24, 2015
Repository of mutations from Oman: The entry point to a national mutation databaseAnna Rajab, Nishath Hamza, Salma Al Harasi, et al.
Human Molecular Genetics|April 15, 2008
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing lossAnna Rajab, Daniel Kelberman, Sandra C P de Castro, et al.
Nucleus (Austin, Tex.)|February 18, 2011
Dosage effect of zero to three functional LBR-genes in vivo and in vitroSophia Gravemann, Nele Schnipper, Hannes Meyer, et al.
American Journal of Medical Genetics. Part A|October 15, 2015
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizuresAlmundher Al-Maawali, Brenda J Barry, Anna Rajab, et al.
European Journal of Human Genetics : EJHG|November 6, 2009
High-throughput sequencing of microdissected chromosomal regionsAnja Weise, Bernd Timmermann, Manfred Grabherr, et al.
Plos One|January 13, 2021
DALIA- a comprehensive resource of Disease Alleles in Arab populationAastha Vatsyayan, Parul Sharma, Shrey Gupta, et al.
American Journal of Human Genetics|May 22, 2004
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndromeHans Christian Hennies, Anita Rauch, Wenke Seifert, et al.
Pageof 5